Generated by All in One SEO v4.9.5.1, this is an llms.txt file, used by LLMs to index the site. # Pacific Northwest Research Institute Powering health through genetic research. ## Sitemaps - [XML Sitemap](http://dev-pacnwresearch.pantheonsite.io/sitemap.xml): Contains all public & indexable URLs for this website. ## Posts - [Blog](http://dev-pacnwresearch.pantheonsite.io/blog/) - [Pacific Northwest Research Institute Announces Strategic Sale of First Hill Research Building](http://dev-pacnwresearch.pantheonsite.io/pacific-northwest-research-institute-announces-strategic-sale-of-first-hill-research-building/) - PNRI announces the sale of its First Hill research building while leasing back space to continue uninterrupted scientific operations in Seattle. - [A Dudley Lab Study That’s Rewriting Genetic Assumptions](http://dev-pacnwresearch.pantheonsite.io/a-dudley-lab-study-thats-rewriting-genetic-assumptions/) - Dudley Lab’s PNAS study is rewriting genetic assumptions—showing some harmful variants can restore function together. See the coverage and read the study. - [Two Wrongs Make a Right: How Two Damaging Variants Can Restore Health ](http://dev-pacnwresearch.pantheonsite.io/two-wrongs-make-a-right-how-two-damaging-variants-can-restore-health/) - A groundbreaking PNRI study overturns long-held genetic assumptions, revealing interactions that could enable more accurate, personalized medicine for rare disorders. - [OTC Gene Variants Explained: From Testing to Care ](http://dev-pacnwresearch.pantheonsite.io/otc-gene-variants-explained-from-testing-to-care/) - PNRI researchers help clarify how OTC gene variants influence health—turning genetic findings into guidance for care, prevention, and early intervention. - [A Summer of Discovery: PNRI’s 2025 SURI Interns Take the Stage ](http://dev-pacnwresearch.pantheonsite.io/a-summer-of-discovery-pnris-2025-suri-interns-take-the-stage/) - From cancer in clams to rare disease genomics, PNRI’s 2025 SURI interns spent the summer tackling big questions through hands-on research. - [Rally for Research, Families, and Hope at “Hope on the Court”  ](http://dev-pacnwresearch.pantheonsite.io/rally-for-research-families-and-hope-at-hope-on-the-court/) - Join PNRI at Hope on the Court—a Seattle pickleball tournament benefiting families affected by Arginase 1 Deficiency. Rally for research, families, and hope! 💙 hopeonthecourt.com - [When Science Gets Caught in the Crossfire: The Lasting Impact of Federal Funding Disruptions](http://dev-pacnwresearch.pantheonsite.io/when-science-gets-caught-in-the-crossfire-the-lasting-impact-of-federal-funding-disruptions/) - Federal funding disruptions have stalled research, delaying critical discoveries. PNRI’s leaders share why stable support matters and how we can protect scientific progress. Read our special message - [Seattle Times Op-Ed: Federal Research Funding Cuts Interrupt Vital, Lifesaving Work](http://dev-pacnwresearch.pantheonsite.io/seattle-times-op-ed-federal-research-funding-cuts-interrupt-vital-lifesaving-work/) - Federal funding disruptions have stalled research, delaying critical discoveries. PNRI’s leaders share why stable support matters and how we can protect scientific progress. Read our special message. - [PNRI Announces Leadership Transition and Welcomes New COO ](http://dev-pacnwresearch.pantheonsite.io/pnri-announces-leadership-transition-and-welcomes-new-coo/) - PNRI welcomes new COO Mark Rieder, PhD, and honors retiring CEO Jack Faris, PhD, marking a new chapter in advancing genetic research. - [Pacific Northwest Research Institute Publishes Key Advances in Rare and Genetic Disease Research Amid National Funding Uncertainty ](http://dev-pacnwresearch.pantheonsite.io/pacific-northwest-research-institute-publishes-key-advances-in-rare-and-genetic-disease-research-amid-national-funding-uncertainty/) - Despite a challenging year for research funding, PNRI scientists moved discovery forward with 21 studies in the past year, shedding light on genetic disorders, cancer biology, and hidden patterns in the human genome – breakthroughs that demonstrate the impact of continued investment in biomedical research. - [Pacific Northwest Research Institute Announces Listing of Building at 720 Broadway in Seattle ](http://dev-pacnwresearch.pantheonsite.io/pacific-northwest-research-institute-announces-listing-of-building-at-720-broadway-in-seattle/) - PNRI lists its 45,000-sq-ft headquarters at 720 Broadway in Seattle for sale to position the institute for future research sustainability and growth. - [The Dark Side of the Genome](http://dev-pacnwresearch.pantheonsite.io/rick-mclaughlin-dark-side-of-genome/) - In this Q&A, Dr. Rick McLaughlin unveils the mysteries of DNA's "junk,” revealing how transposable elements transform our genetic understanding and impact diseases like lupus and cancer. Explore his journey and quest to decode the dark side of the genome. - [Where Nature Meets Nurture](http://dev-pacnwresearch.pantheonsite.io/lisa-stubbs-where-nature-meets-nurture/) - PNRI’s Dr. Lisa Stubbs explores where nature meets nurture, studying how genetics and stress intersect to shape brain development and pregnancy outcomes, and uncovering protective genes against gestational diabetes. - [Carvalho Lab Shares New Insights Into Rare Diseases, Inversions, and Complex Genomic Rearrangements ](http://dev-pacnwresearch.pantheonsite.io/carvalho-lab-shares-new-insights-into-rare-diseases-inversions-and-complex-genomic-rearrangements/) - New research from PNRI’s Carvalho Lab reveals how complex genomic rearrangements like inversions may help solve rare disease cases that defy standard diagnosis. - [Rare Disease, Real Progress: Season 2 of PNRI’s Podcast Is Here](http://dev-pacnwresearch.pantheonsite.io/rare-disease-real-progress-season-2-of-pnris-podcast-is-here/) - Listen now to PNRI Science: Rare Disease, Real Progress – our latest podcast series featuring conversations from our 2025 Rare Disease Day Symposium with scientists, advocates, and industry leaders accelerating rare disease research. - [Building a Brighter Future for High-Risk Newborns ](http://dev-pacnwresearch.pantheonsite.io/building-a-brighter-future-for-high-risk-newborns/) - Dr. Aimée Dudley’s lab at PNRI has developed a powerful set of scientific tools that addresses a critical, unmet need in the diagnosis of patients with urea cycle disorders. - [Contagious Cancer in Shellfish Sparks Investigation by International Team of Scientists](http://dev-pacnwresearch.pantheonsite.io/contagious-cancer-in-shellfish-sparks-investigation-by-international-team-of-scientists/) - A multimillion-dollar grant enables investigators to turn the tide on transmissible cancers in shellfish on both U.S. coasts. - [The Evolution of Genomes and Grapes](http://dev-pacnwresearch.pantheonsite.io/the-evolution-of-genomes-and-grapes/) - PNRI Scientist Rick McLaughlin, PhD, shares how genomes evolved by stealing pieces of viruses to make new genes and why that matters now. Denise and Brett Isenhower, owners and winemakers at Isenhower Cellars (and both former Pharmacists), discuss clones and the evolution of grapes. Part of the Science and Wine Club, a quarterly conversation series by PNRI. - [Adapting to Stress](http://dev-pacnwresearch.pantheonsite.io/adapting-to-stress/) - PNRI Scientist Lisa Stubbs, PhD, explains the link between stress and health, and how it's all tied to our genetics. Chuck Reininger, owner and winemaker at Reininger Winery discusses how wine vineyards use plant stress to produce healthy plants and desirable wines. Part of the Science and Wine Club, a quarterly conversation series by PNRI. - [Contagious Cancer in Clams](http://dev-pacnwresearch.pantheonsite.io/contagious-cancer-in-clams/) - PNRI Scientist Michael Metzger, PhD, describes his research on a rare contagious disease in clams and how some clams are adapting to be immune to it. Jason Morin, owner and winemaker at Ancestry Cellars describes phylloxera, a blight that nearly wiped out the European wine industry. Science and Wine Club, a quarterly conversation series by PNRI. - [An Update on Type 1 Diabetes Research](http://dev-pacnwresearch.pantheonsite.io/an-update-on-type-1-diabetes-research/) - PNRI Principal Investigator Bill Hagopian, MD, PhD, discusses his research, the connection between type 1 diabetes and celiac, and his hopes for the future of diagnosis and treatment. And John Caudill of Sheridan Vineyard walks through tasting some of Sheridan's tasty reds. Part of the Science and Wine Club, a quarterly conversation series by PNRI. - [Is your stress level genetic? Local study examines the role played by DNA](http://dev-pacnwresearch.pantheonsite.io/is-your-stress-level-genetic-local-study-examines-the-role-played-by-dna/) - Dr. Lisa Stubbs recently discussed the connection between genetics and chronic stress on KOMO-TV. - [Q&A With Dr. Rick McLaughlin on the Implications of Mapping the First Complete Human Genome](http://dev-pacnwresearch.pantheonsite.io/qa-with-dr-rick-mclaughlin-on-the-implications-of-mapping-the-first-complete-human-genome/) - On March 31, 2022, scientists from the Telomere-to-Telomere (T2T) consortium announced a historic first in the field of human genetics: they successfully sequenced an entire human genome, essentially completing the work started by the Human Genome Project. - [Decoding the Genetics of Stress](http://dev-pacnwresearch.pantheonsite.io/decoding-the-genetics-of-stress/) - In the not-so-distant past, a typical doctor’s visit for many of us might have focused on problematic symptoms or an ongoing physical health issue. We didn’t expect to discuss social stressors like demanding jobs, family obligations, financial hardships, or the recent death of a loved one. - [Mentoring the Next Generation of Scientists](http://dev-pacnwresearch.pantheonsite.io/mentoring-the-next-generation-of-scientists-2/) - Mentorship is an integral part of science. Each summer, scientists at PNRI mentor college students as part of our eight-week Summer Undergraduate Science Internship Program. - [How Clams Provide Clues Into Cancer Evolution](http://dev-pacnwresearch.pantheonsite.io/how-clams-provide-clues-into-cancer-evolution/) - The key to learning about cancer evolution in humans may be found by studying a surprising organism: the clam. - [Novel Genetic Screening Tool Offers Hope for Babies Born With Life-Threatening Metabolic Disorder](http://dev-pacnwresearch.pantheonsite.io/novel-genetic-screening-tool-offers-hope-for-babies-born-with-life-threatening-metabolic-disorder/) - Every expectant parent hopes to welcome a healthy baby into the world. Unfortunately, infants with some genetic diseases appear healthy at birth, but then rapidly deteriorate—they become lethargic, stop eating, develop seizures, and may progress to coma—symptoms common to a variety of metabolic disorders - [Washington Research Foundation awards $100,000 to Pacific Northwest Research Institute in honor of David J. Galas, Ph.D.](http://dev-pacnwresearch.pantheonsite.io/washington-research-foundation-awards-100000-to-pacific-northwest-research-institute-in-honor-of-david-j-galas-ph-d/) - Washington Research Foundation awards $100,000 to Pacific Northwest Research Institute in honor of David J. Galas, Ph.D. The funding will support continuation of work started by Galas and Lisa Stubbs, Ph.D. to identify genetic factors influencing brain’s response to stress. - [PNRI Mourns the Loss of David J. Galas, PhD](http://dev-pacnwresearch.pantheonsite.io/pnri-mourns-the-loss-of-david-j-galas-phd/) - Pacific Northwest Research Institute (PNRI) mourns the loss of David J. Galas, PhD who passed away on May 27, 2023, after a hard-fought battle with cancer. Dr. Galas was a world-renowned expert in molecular biology and genetics whose long and distinguished career led to contributions in the fields of physics, mathematics, and biology. While his - [Media Roundup: PNRI’s Metzger Lab Investigates Contagious Cancer in Shellfish](http://dev-pacnwresearch.pantheonsite.io/media-roundup-pnris-metzger-lab-investigates-contagious-cancer-in-shellfish/) - PNRI’s Metzger Lab and collaborators from across the globe recently launched a study investigating how a virus-like cancer spreads among basket cockles on the Pacific Coast and soft-shell clams on the Atlantic Coast. - [Save the Date for Bold Breakthroughs](http://dev-pacnwresearch.pantheonsite.io/save-the-date-for-bold-breakthroughs/) - PNRI is excited to host our annual event this fall! Join PNRI for Bold Breakthroughs: a night of thrilling discovery and fine wine on Friday, October 20, 2023. We invite you to an evening that brings cutting-edge genetics research from our labs to the beautiful AXIS venue in Pioneer Square. Sip on wines from some - [PNRI Welcomes Shirin McConaghy to Board of Trustees](http://dev-pacnwresearch.pantheonsite.io/pnri-welcomes-shirin-mcconaghy-to-board-of-trustees/) - Today, we warmly welcome Shirin McConaghy to PNRI’s esteemed Board of Trustees. - [DNA Today Podcast Explores Three Perspectives on Dudley Lab’s Research Revolutionizing Diagnosis and Treatment of OTC Deficiency](http://dev-pacnwresearch.pantheonsite.io/dna-today-podcast-explores-three-perspectives-on-dudley-labs-research-revolutionizing-diagnosis-and-treatment-of-otc-deficiency/) - PNRI's Dr. Aimée Dudley joins Dr. Andrea Gropman of Children’s National Hospital and Tresa Warner of the National Urea Cycle Disorders Foundation to discuss a novel genetic screening tool that offers hope to babies born with OTC deficiency, a life-threatening metabolic disorder. - [Mentoring Tomorrow’s Genetic Innovators ](http://dev-pacnwresearch.pantheonsite.io/mentoring-tomorrows-genetic-innovators/) - The Summer Undergraduate Research Internship (SURI) is integral in PNRI, where scientists value mentoring the next generation. This summer we proudly hosted five exceptional interns with diverse interests and career goals as they got hands-on training in our laboratories. - [Expanding Newborn Screening Panels in the Genomic Era](http://dev-pacnwresearch.pantheonsite.io/expanding-newborn-screening-panels-in-the-genomic-era/) - The pace of genetic discovery has expanded the ability to diagnose more of the rare, inherited diseases that threaten the lives of newborns. And yet, the pace of adding new diseases to the newborn screening program is lagging. - [Genomic Analysis Reveals Ancient Cancer Lineages in Clams](http://dev-pacnwresearch.pantheonsite.io/genomic-analysis-reveals-ancient-cancer-lineages-in-clams/) - In a new study published in the journal Nature Cancer, Michael Metzger, Ph.D., Assistant Investigator at Pacific Northwest Research Institute (PNRI), and a global team of co-investigators have conducted a comprehensive analysis of the genomic changes associated with a unique cancer in clams. The cancer is “transmissible” in that the cancer cells themselves jump from one clam to another through the environment. The study traced the evolution of the cancer cells over the last 200 years and revealed widespread genomic mutations and instability, which may explain how they have survived for so long. These results highlight the clam's potential as a model for studying both cancer evolution and the development of resilience to cancer. - [The New York Times Covers PNRI’s Breakthrough Research on Ancient Cancer in Clams](http://dev-pacnwresearch.pantheonsite.io/the-new-york-times-covers-pnris-breakthrough-research-on-ancient-cancer-in-clams/) - The New York Times featured Dr. Michael Metzger’s groundbreaking research on transmissible cancer in clams in: Bizarre Cancer Has Been Spreading Among Shellfish for Centuries, Studies Find. - [Unlocking the Secrets of Complex Genomic Rearrangements in Disease](http://dev-pacnwresearch.pantheonsite.io/unlocking-the-secrets-of-complex-genomic-rearrangements-in-disease/) - In a pair of recent studies, PNRI’s Carvalho Lab is making significant strides in unraveling the intricate relationship between our genes and their structure, shedding new light on the genetic underpinnings of specific diseases. - [Bold Breakthroughs: PNRI's Night of Celebration, Science, and Hope](http://dev-pacnwresearch.pantheonsite.io/bold-breakthroughs-pnris-night-of-celebration-science-and-hope/) - In late October, PNRI celebrated recent achievements and ongoing innovation in the field of genetic research with our event: Bold Breakthroughs, an enthusiastic return to in-person events for the institute after a four-year hiatus from our classic annual fundraiser, Evening of Wine. Bold Breakthroughs represented a fresh and energizing adaptation of that classic and was a truly thrilling evening that still has staff and supporters buzzing. - [The Hidden Heroes in Your DNA: Retrocopies and Their Role in Fighting Viruses ](http://dev-pacnwresearch.pantheonsite.io/the-hidden-heroes-in-your-dna-retrocopies-and-their-role-in-fighting-viruses/) - Research from PNRI’s McLaughlin Lab has found that our genomes harbor retrocopies of a specific family of genes called APOBEC3, which play a crucial role in restricting viral infections. What’s more, these retrocopies are capable of fighting off viruses when tested in the lab. - [Now Accepting: Applications for PNRI’s 2024 Summer Undergraduate Research Internship](http://dev-pacnwresearch.pantheonsite.io/now-accepting-applications-for-pnris-2024-summer-undergraduate-research-internship/) - PNRI’s Summer Undergraduate Research Internship (SURI) is an exciting opportunity tailored for undergraduates passionate about biomedical sciences. This nine-week intensive, paid program offers a dive into research projects, scientific symposiums, and career development activities, giving aspiring researchers a platform to flourish. - [Two-Decade Dedication](http://dev-pacnwresearch.pantheonsite.io/two-decade-dedication-diabetes/) - Explore how two decades of diabetes research led by Dr. Bill Hagopian and Michael Killian at PNRI have paved the way for groundbreaking discoveries in type 1 diabetes prevention. - [Your Support Powers PNRI’s Life-Saving Research Advances](http://dev-pacnwresearch.pantheonsite.io/your-support-powers-pnris-life-saving-research-advances/) - This holiday season, we invite you donate to PNRI and be a part of ensuring that our most promising discoveries and technologies reach patients when they need them most. - [PNRI Welcomes Dr. Jack Faris as Interim CEO ](http://dev-pacnwresearch.pantheonsite.io/pnri-welcomes-dr-jack-faris-as-interim-ceo/) - PNRI is thrilled to announce the appointment of Dr. Jack Faris as our new interim CEO. Dr. Faris brings with him a wealth of experience and a dedication to scientific advancement and community engagement. - [A Sneak Peek Into 2024 Science Matters Seminars](http://dev-pacnwresearch.pantheonsite.io/a-sneak-peek-into-2024-science-matters-seminars/) - Immerse yourself in the forefront of genetics with PNRI’s 2024 Science Matters seminars. Check out the full lineup on PNRI’s Science Matters page – you won’t want to miss this! - [Rare Disease Day 2024 and the Frontier of Genetic Research](http://dev-pacnwresearch.pantheonsite.io/rare-disease-day-2024-and-the-frontier-of-genetic-research/) - 300 million people live with a rare disease. PNRI scientists uncovering the genetic roots of rare diseases and revolutionizing how they are diagnosed. - [NUCDF Highlights Dudley Lab Breakthrough in Urea Cycle Disorder Research](http://dev-pacnwresearch.pantheonsite.io/nucdf-highlights-dudley-lab-breakthrough-in-urea-cycle-disorder-research/) - Read about Dr. Aimee Dudley's groundbreaking urea cycle disorder research at PNRI in National Urea Cycle Disorders Foundation's article about her genetic tool. - [The AUTS2 Gene: Unraveling Common Genetic Threads of Neurodevelopmental Disorders](http://dev-pacnwresearch.pantheonsite.io/auts2-genetics-of-neurodevelopmental-disorders/) - Read about the Stubbs Lab's quest to understand how the AUTS2 gene sets the stage for autism spectrum disorder, intellectual disability, ADHD, epilepsy, and more. - [PNRI's Rare Disease Research Seminar Spotlights Collaboration and Advocacy](http://dev-pacnwresearch.pantheonsite.io/pnris-rare-disease-research-seminar-spotlights-collaboration-and-advocacy/) - Learn more about PNRI's special Science Matters seminar honoring Rare Disease Day, featuring Jill Hawkins and Jennifer Posey, MD, PhD, two of our partners in the rare disease research community. - [PNRI Discoveries Showcased at Global Rare Disease Conferences](http://dev-pacnwresearch.pantheonsite.io/pnri-discoveries-showcased-at-global-rare-disease-conferences/) - Learn how PNRI scientists are sharing their rare disease discoveries with scientists, clinicians, and patient advocates at conferences around the world. - [Study Reveals Role of Newly Inherited DNA Variants in Recessive Diseases](http://dev-pacnwresearch.pantheonsite.io/study-reveals-role-of-newly-inherited-dna-variants-in-recessive-diseases/) - Learn about a decade-long exploration into Turkish genetics that has shattered old paradigms and revealed a vital piece of the puzzle behind why some rare diseases emerge. - [PNRI Opens its Doors for Behind-the-Scenes Look Into Genetics Research](http://dev-pacnwresearch.pantheonsite.io/pnri-opens-its-doors-for-behind-the-scenes-look-into-genetics-research/) - Last Saturday PNRI hosted free lab tours, a thrilling opportunity to bring the public behind the scenes of their cutting-edge genetics research. - [PNRI’s Inaugural Rare Disease Hackathon: Uniting Experts to Solve Genetic Mysteries](http://dev-pacnwresearch.pantheonsite.io/pnris-inaugural-rare-disease-hackathon-uniting-experts-to-solve-genetic-mysteries/) - For three dynamic days, participants immersed themselves in solving genetic mysteries in PNRI’s first-ever Rare Disease Hackathon. Read on to learn about their mission to uncover disease-causing genetic variants in unresolved rare disease families. - [Pacific Northwest Research Institute Uncovers Hidden DNA Mechanisms of Rare Genetic Diseases](http://dev-pacnwresearch.pantheonsite.io/pacific-northwest-research-institute-uncovers-hidden-dna-mechanisms-of-rare-genetic-diseases/) - PNRI researchers and collaborators have discovered that DNA rearrangements called inverted triplications play a key role in various genetic diseases. - [Rare Disease Day 2025: Accelerating Discovery Together](http://dev-pacnwresearch.pantheonsite.io/rare-disease-day-2025-accelerating-discovery-together/) - PNRI’s inaugural Rare Disease Day symposium ignited bold collaborations to accelerate rare disease research. See how scientists, clinicians, and advocates are driving breakthroughs! - [Changing the Tide of Cancer With Clams](http://dev-pacnwresearch.pantheonsite.io/changing-the-tide-of-cancer-with-clams/) - Explore Dr. Michael Metzger’s groundbreaking research on contagious cancer in clams, uncovering insights that could revolutionize cancer treatment in humans. - [Michael Metzger featured in Discovery Series!](http://dev-pacnwresearch.pantheonsite.io/michael-metzger-featured-in-discovery-series/) - Meet our 2024 Summer Undergraduate Research Internship (SURI) participants and learn about their incredible research in the labs at PNRI - [The TEDDY Study Turns 20: A New Era for T1D Insights](http://dev-pacnwresearch.pantheonsite.io/the-teddy-study-turns-20-a-new-era-for-t1d-insights/) - Explore the groundbreaking TEDDY Study's 20 years of research into type 1 diabetes (T1D). Discover how genetics and the environment interact to shape T1D risk and prevention strategies. - [Solving the Unsolved Cases of Rare Diseases](http://dev-pacnwresearch.pantheonsite.io/solving-the-unsolved-cases-of-rare-diseases/) - Dr. Cláudia Carvalho and her team are on a mission to diagnose rare diseases that have long baffled the medical community. With a focus on genetic structural variants, often undetected in standard tests, their work is pushing the boundaries of what’s possible in genetics. - [PNRI Welcomes Six New Trustees to Its Board](http://dev-pacnwresearch.pantheonsite.io/pnri-welcomes-six-new-trustees-to-its-board/) - PNRI welcomes six new trustees, bringing expertise in science, business, and advocacy to advance groundbreaking genetic research and shape a healthier future. Meet the new trustees today! - [Notes From TEDDY Study Families](http://dev-pacnwresearch.pantheonsite.io/notes-from-teddy-study-families/) - The heartfelt messages from TEDDY Study families remind us of the positive impact research can have. We’re grateful for their support and inspiration! - [PNRI 2024 Year in Review: A Year of Innovation, Collaboration, and Discovery ](http://dev-pacnwresearch.pantheonsite.io/pnri-2024-year-in-review-a-year-of-innovation-collaboration-and-discovery/) - From uncovering genetic mysteries to inspiring the next generation, PNRI's 2024 was a year of breakthroughs, collaboration, and discovery. Readthe highlights! - [Advancing Genetic Research, Together: Our FY24 Annual Report](http://dev-pacnwresearch.pantheonsite.io/advancing-genetic-research-together-our-fy24-annual-report/) - PNRI’s FY24 Annual Report is here! See how we’re advancing genetic research, expanding programs, and shaping the future of human health. - [The Next Generation of Brilliant Scientists: Summer Undergraduate Research Interns at PNRI](http://dev-pacnwresearch.pantheonsite.io/the-next-generation-of-brilliant-scientists-summer-undergraduate-research-interns-at-pnri/) - Meet our 2024 Summer Undergraduate Research Internship (SURI) participants and learn about their incredible research in the labs at PNRI - [Introducing "PNRI Science: Mystery and Discovery" – A New PNRI Podcast](http://dev-pacnwresearch.pantheonsite.io/introducing-pnri-science-mystery-and-discovery-a-new-pnri-podcast/) - PNRI Science: Mystery and Discovery podcast takes you behind the scenes of groundbreaking genetics research and how it's shaping the future of healthcare. PNRI CEO Jack Faris sits down with PNRI's brilliant scientists to uncover how rapidly science is evolving, their inspiration for their research, what inspired this lifelong career, and the myths they aim to bust about science. - [The Genetics Behind Holiday Stress](http://dev-pacnwresearch.pantheonsite.io/the-genetics-behind-holiday-stress/) - That holiday stress you're feeling may have everything to do with your genes. - [Linux Systems Administrator](http://dev-pacnwresearch.pantheonsite.io/linux-systems-administrator/) - The Linux Systems Administrator position maintains, develops, and provides support for the high-performance computing (HPC) systems. This position participates in the need identification, design and implementation of new and expanded HPC technologies and projects. A significant portion of the support activities are focused on computational biology software in partnership with scientific staff. Duties and Responsibilities ## Pages - [Home](http://dev-pacnwresearch.pantheonsite.io/) - Creative thinking to power medical breakthroughs PNRI scientists unravel the powerful mysteries of the human genome through the lens of “what keeps us healthy” to drive future medical innovations. Learn More Scientific discoveries found in unexpected places From contagious cancer in clams to rare inherited metabolic disorders to junk DNA—PNRI labs delve into unexplored areas - [Summer Undergraduate Research Internship (SURI)](http://dev-pacnwresearch.pantheonsite.io/about/suri/) - About PNRI PNRI is an independent, nonprofit, biomedical research institute with a distinguished history of contributing scientific advances to improve health in a variety of disease areas. PNRI is committed to creating a diverse environment and all qualified candidates are encouraged to apply. Applicants will not be discriminated against because of race, color, creed, sex, - [Education](http://dev-pacnwresearch.pantheonsite.io/education/) - Science Starts with Opportunity UPDATE: PNRI will not be offering a Summer Internship Program in 2026. We appreciate your interest and encourage you to check back for future internship opportunities. At PNRI, education means giving students the chance to contribute to real science. Our primary educational initiative—the Summer Undergraduate Research Internship (SURI)—offers college students a paid, Learn about PNRI"s Summer Undergraduate Research Internship. - [Help Protect the Discoveries Families Depend On](http://dev-pacnwresearch.pantheonsite.io/support/science2025/) - For nearly 70 years, Pacific Northwest Research Institute (PNRI) has helped families facing rare diseases and type 1 diabetes find answers. Our researchers develop tools that shorten the diagnostic odyssey, uncover early drivers of disease, and give clinicians the information they need to care for patients in real time. But federal funding cuts threaten this - [Clinical and Lab Services](http://dev-pacnwresearch.pantheonsite.io/clinical-and-lab-services/) - Welcome to PNRI's Clinical and Lab Services We offer nonprofit, academic, and biotech institutions a comprehensive suite of clinical research services. Our goal is to equip life science researchers with high-quality clinical and lab support to advance scientific discoveries and drive improved health outcomes. Tailored Research Support We offer extensive support to streamline and strengthen - [Leadership](http://dev-pacnwresearch.pantheonsite.io/leadership/) - Executive Leadership PNRI is a small, lean, and independent biomedical institute. Our structure is nimble and flexible, with an administrative team built around a core value of supporting the scientists in their pursuit of discovery. Together, we are improving human health for generations to come. Mark Rieder, PhD Chief Executive Officer Read Bio Dr. Rieder - [Science Matters](http://dev-pacnwresearch.pantheonsite.io/events/science-matters/) - Overview PNRI’s Science Matters seminar series featured free, virtual discussions with scientists around the globe exploring exciting research in genetics, genomics, and evolutionary biology with important societal impact. Topics addressed research on the genetics of ethnically diverse populations, diseases afflicting vulnerable or underserved groups, and efforts to expand the diversity (broadly defined) of research subjects - [Board of Trustees](http://dev-pacnwresearch.pantheonsite.io/board-of-trustees/) - Board of Trustees PNRI is supported by our Board of Trustees, which includes volunteers from many walks of life and professional experience. Together, we are ensuring that PNRI continues to deliver on its mission in a fiscally responsible and sustainable way. Tera Eerkes, PhD Board Co-Chair Vice President, Product Development, Oncology, Natera, Inc. Read Bio PNRI's Scientific Advisory Board brings together esteemed leaders in genomics, molecular biology, and translational research. These experts guide and inform PNRI’s mission to advance scientific discovery and improve health outcomes. Meet the members who drive innovation and collaboration at the forefront of science. - [Aimée Dudley, PhD](http://dev-pacnwresearch.pantheonsite.io/aimeedudley/) - Overview PNRI’s Dudley Lab is interested in understanding how naturally occurring genetic variation leads to the stunning array of phenotypic diversity on the planet. This team uses genetics, genomics, leading edge technologies, and the awesome power of yeast genetics to address a wide array of biological problems. The Dudley Lab’s creative, multidisciplinary, and collaborative approaches - [Dudley Lab](http://dev-pacnwresearch.pantheonsite.io/dudley-lab/) - Overview PNRI’s Dudley Lab is interested in understanding how naturally occurring genetic variation leads to the stunning array of phenotypic diversity on the planet. This team uses genetics, genomics, leading edge technologies, and the awesome power of yeast genetics to address a wide array of biological problems. The Dudley Lab’s creative, multidisciplinary, and collaborative approaches - [Events](http://dev-pacnwresearch.pantheonsite.io/events/) - Virtual Seminars for Scientists PNRI’s Science Matters free, virtual seminars feature discussions with scientists around the globe about exciting research in genetics, genomics, and evolutionary biology with important societal impact. Science Matters Omic-driven precision care in South Africa This seminar will cover the growing role of omics-driven precision care in South Africa, and how these - [Metzger Lab](http://dev-pacnwresearch.pantheonsite.io/metzger-lab/) - Overview The Metzger Lab investigates rare contagious cancers in nature in order to understand how cancers evolve and to use that information to learn new ways to block cancer in humans. Cancers are not normally contagious, but in a few cases in the wild, cancer cells themselves will actually jump from one animal to the - [McLaughlin Lab](http://dev-pacnwresearch.pantheonsite.io/mclaughlin-lab/) - Overview PNRI’s McLaughlin Lab seeks to understand how the evolutionary past of humans and their pathogens has shaped their current function. Transposable elements (TEs) have generated the majority of the sequence in the human genome, and all of human biology has evolved in the ever-present DNA, RNA, and protein made by these self-replicating pieces of - [Carvalho Lab](http://dev-pacnwresearch.pantheonsite.io/carvalho-lab/) - Overview The primary goal of the Carvalho Lab is to investigate the molecular causes of rare genetic diseases and their impact on human health and development. Genomes show high levels of plasticity and undergo changes in the form of single-nucleotide variants (SNVs) and structural DNA rearrangements. In humans, genomic variants, particularly those constituted by rare - [Media Inquiries](http://dev-pacnwresearch.pantheonsite.io/media-inquiries/) - About PNRI PNRI is a nonprofit biomedical research institute, where forward-thinking scientists use innovative approaches to tackle some of the most difficult problems in science and medicine. The Institute was founded in 1956 by Dr. William Hutchinson in Seattle, Washington, as a place where scientists were free to pursue discoveries that promised the highest chance - [Center for Rare Disease Research](http://dev-pacnwresearch.pantheonsite.io/center-for-rare-disease-research/) - Contact Us Have questions or want to learn more? Click the button below to reach out to us at raredisease@pnri.org Contact Us Mailing Address Pacific Northwest Research Institute720 Broadway, Seattle, WA 98122 Phone (206) 726-1200 (local)(800) 745-1527 (toll-free)(206) 726-1217 (fax) PNRI Rare Disease Research News and Media More News and Media PNRI Rare Disease Research Publications - [Research Topics](http://dev-pacnwresearch.pantheonsite.io/research/) - Boundary-Breaking Genetic Research PNRI’s unbridled exploration creates transformational science. Our discoveries become the backbone for cutting-edge ways to diagnose and treat a wide variety of diseases. PNRI’s labs unravel the powerful mysteries of the human genome through the lens of “what keeps us healthy” to drive future medical breakthroughs. While each lab has its own unique - [About](http://dev-pacnwresearch.pantheonsite.io/about/) - At Pacific Northwest Research Institute (PNRI), we believe intellectual freedom drives medical breakthroughs. PNRI is a nonprofit biomedical research institute, where forward-thinking scientists use innovative approaches to tackle some of the most difficult problems in science and medicine. The Institute was founded in 1956 by Dr. William Hutchinson in Seattle, Washington, as a place where - [TEDDY and CASCADE: Type 1 Diabetes Research Studies](http://dev-pacnwresearch.pantheonsite.io/teddy-and-cascade-type-1-diabetes-research-studies/) - TEDDY Overview What causes type 1 diabetes (T1D)—and can we stop it before it starts? That’s the question at the heart of TEDDY: The Environmental Determinants of Diabetes in the Young. This groundbreaking international study followed more than 8,600 children with high genetic risk for T1D from infancy through age 15 over six sites across - [Episode 3: Voices From the Bench and the Bedside](http://dev-pacnwresearch.pantheonsite.io/podcasts/pnri-science-rare-disease-real-progress/episode-3-voices-from-the-bench-and-the-bedside/) - What inspires someone to dedicate their life to rare disease research? In this episode recorded live at PNRI’s Rare Disease Day Symposium, scientists and clinicians at all stages of their careers share what motivates their work—and why collaboration across labs, hospitals, and families is essential to making progress. - [Episode 4: Industry Partner Perspectives](http://dev-pacnwresearch.pantheonsite.io/podcasts/pnri-science-rare-disease-real-progress/episode-4-industry-partner-perspectives/) - In the final episode of PNRI Science: Rare Disease, Real Progress, two leaders from rare disease biotech share how patient stories, advocacy, and a deep sense of connection to the community shape their work—and the future they hope to help build. - [PNRI Science: Rare Disease, Real Progress (Season 2)](http://dev-pacnwresearch.pantheonsite.io/podcasts/pnri-science-rare-disease-real-progress/) - Listen now to PNRI Science: Rare Disease, Real Progress—recorded at PNRI’s 2025 Rare Disease Day symposium and featuring voices accelerating progress in rare disease research and treatment. - [Episode 2:  Driven by Diagnosis](http://dev-pacnwresearch.pantheonsite.io/podcasts/pnri-science-rare-disease-real-progress/episode-2-driven-by-diagnosis/) - Episode 2: Rare disease advocates share how personal journeys—fueled by urgency and hope—are changing policy, advancing research, and accelerating access to treatments. - [Episode 1: Two Institutions, One Powerful Event](http://dev-pacnwresearch.pantheonsite.io/podcasts/pnri-science-rare-disease-real-progress/episode-1-two-institutions-one-powerful-event/) - PNRI CEO Jack Faris and Seattle Children’s CSO Dr. Vittorio Gallo share insights from PNRI’s 2025 Rare Disease Day Symposium on advancing rare disease research through collaboration and innovation. - [Careers](http://dev-pacnwresearch.pantheonsite.io/careers/) - Pacific Northwest Research Institute (PNRI) is home to a multidisciplinary team of world-class scientists who use innovative approaches to tackle some of the most difficult problems in science and medicine. We believe that scientific breakthroughs are found in unexpected places—often at the intersection of multiple scientific disciplines. Our team collaborates across labs and disciplines, exploring - [Give to the Future Breakthroughs Fund](http://dev-pacnwresearch.pantheonsite.io/support/future-breakthroughs-fund/) - Your monthly gift supports PNRI’s pioneering genetic research that pushes the boundaries of what’s possible in science and medicine. No one can say when the next breakthrough from our labs will occur. It might be tomorrow. It might be next year. It might be happening right now as you read this. But the breakthroughs will - [Rare Disease Day 2025](http://dev-pacnwresearch.pantheonsite.io/rarediseaseday2025/) - Listen now to the conversations inspired by our 2025 Rare Disease Day Symposium in our new podcast, PNRI Science: Rare Disease, Real Progress. Visit PNRI Science: Rare Disease, Real Progress to catch new episodes as they’re released–and check out the trailer below for a preview of what's to come. Questions Contact the Development Team via - [Podcasts](http://dev-pacnwresearch.pantheonsite.io/podcasts/) - Listen now to PNRI’s podcasts—Season 1 explores the science behind genetic discovery, while Season 2 shares real voices accelerating progress in rare disease research. - [PNRI Science: Mystery and Discovery (Season 1)](http://dev-pacnwresearch.pantheonsite.io/podcasts/mystery-and-discovery/) - Listen to PNRI's podcast "PNRI Science: Mystery & Discovery" that goes beyond the jargon to explore the passion and people at the forefront of genetic research. - [Research Topics](http://dev-pacnwresearch.pantheonsite.io/center-for-rare-disease-research/research-topics/) - Lorem ipsum dolor sit amet, consectetur adipiscing elit. Cras at turpis non erat malesuada fringilla. Mauris semper quam vel pharetra sollicitudin. 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Ut vel diam accumsan, vulputate diam sed, fermentum urna. Phasellus et ligula in dui lobortis ultrices ut quis lacus. Curabitur lobortis, felis mollis accumsan tincidunt, nisi leo ultricies risus, sit amet mollis nulla odio - [Media Coverage](http://dev-pacnwresearch.pantheonsite.io/media-coverage/) - Category All PNRI Carvalho Lab Dudley Lab Galas Lab Hagopian Lab McLaughlin Lab Metzger Lab Stubbs Lab Search - [Rare Disease News and Media](http://dev-pacnwresearch.pantheonsite.io/center-for-rare-disease-research/rare-disease-news-and-media/) - [Rare Disease Publications](http://dev-pacnwresearch.pantheonsite.io/center-for-rare-disease-research/rare-disease-publications/) - [Labs](http://dev-pacnwresearch.pantheonsite.io/labs/) - PNRI has four distinguished scientists leading laboratories. Each of our investigators explores a different aspect of the interplay between genetics and the environment to understand our resilience or susceptibility to a wide variety of diseases. What unites them is a passion for scientific research that will ultimately improve human health. - [Why Your Gift Matters](http://dev-pacnwresearch.pantheonsite.io/your-gift-matters/) - Genetic research holds the key to solving some of the most difficult problems in science and medicine. PNRI provides an environment where researchers are free to follow the science—often leading to unexpected discoveries found at the intersection of multiple disciplines. A gift of support to PNRI is a gift to fuel creative thinking and to - [Annual Reports](http://dev-pacnwresearch.pantheonsite.io/annual-reports/) - Our annual reports are a celebration of the groundbreaking discoveries at PNRI. In these reports, you will read about how our esteemed scientists use innovative approaches to tackle some of the most difficult problems in science and medicine. We are grateful to our staff, board, and generous donors for their dedication and support. Together, we - [Corporate Sponsorship](http://dev-pacnwresearch.pantheonsite.io/corporate-sponsorship/) - [About the Founder](http://dev-pacnwresearch.pantheonsite.io/about/william-hutchinson/) - Biography of William Hutchinson, MD William “Bill” Hutchinson was the son of a country doctor. He was born in 1909 when Washington state was covered with primeval forests and the streets of Seattle were paved with mud; he died in 1997 as the tech industry was transforming the economic landscape and biologists began mapping the - [History](http://dev-pacnwresearch.pantheonsite.io/history/) - PNRI was founded in 1956. Our history includes seven decades of driven exploration and groundbreaking contributions to improving human health. Pacific Northwest Research Institute (PNRI) maintains our founder’s original vision: investigators fearlessly pursuing innovative scientific discoveries. PNRI’s team of world-class scientists shares an enthusiasm for examining problems from different angles and weaving together multiple disciplines - [Rare Disease Day 2025 Family Foundations](http://dev-pacnwresearch.pantheonsite.io/rare-disease-day-2025-family-foundations/) - Return to Rare Disease Day 2025 homepage - [Rare Disease Day 2025 Poster Sessions](http://dev-pacnwresearch.pantheonsite.io/rare-disease-day-2025-poster-sessions/) - Seattle Children’s Research Institute 1920 Terry Ave.Seattle, WA Scientific Symposium (Lunch Provided) 9 am – 5 pm Poster Session & Reception (Appetizers & Wine) 5 – 7 pm Explore the full lineup below of posters highlighting innovative rare disease research and engage with the scientists driving this critical work forward. Return to Rare Disease Day - [Rare Disease Day 2025 Panel & Sessions](http://dev-pacnwresearch.pantheonsite.io/rare-disease-day-2025-panel-sessions/) - Seattle Children’s Research Institute 1920 Terry Ave.Seattle, WA Scientific Symposium (Lunch Provided) 9 am – 5 pm Poster Session & Reception (Appetizers & Wine) 5 – 7 pm Explore the full lineup of panels and presentations below and be part of the conversation shaping the future of rare disease research. Each session highlights groundbreaking work that is - [Scientific Advisory Board](http://dev-pacnwresearch.pantheonsite.io/scientific-advisory-board/) - Scientific Advisory Board PNRI's Scientific Advisory Board brings together esteemed leaders in genomics, molecular biology, and translational research. These experts guide and inform PNRI’s mission to discover new solutions in the fight against disease. Meet the members who drive innovation and collaboration at the forefront of science. Sue Biggins, PhD Director, Division of Basic Sciences, PNRI's Scientific Advisory Board brings together esteemed leaders in genomics, molecular biology, and translational research. These experts guide and inform PNRI’s mission to advance scientific discovery and improve health outcomes. Meet the members who drive innovation and collaboration at the forefront of science. - [Panel 1 - 9:05 am](http://dev-pacnwresearch.pantheonsite.io/905-am-panel-1/) - Questions Contact the Development Team via our contact form or call (206) 726-1233 with any questions. - [Session 1 - 9:50 am](http://dev-pacnwresearch.pantheonsite.io/950-am-session-1/) - Questions Contact the Development Team via our contact form or call (206) 726-1233 with any questions. - [Session 2 - 11:15 am](http://dev-pacnwresearch.pantheonsite.io/1115-am-session-2/) - Questions Contact the Development Team via our contact form or call (206) 726-1233 with any questions. - [Session 3 - 1:15 pm](http://dev-pacnwresearch.pantheonsite.io/115-pm-session-3/) - Questions Contact the Development Team via our contact form or call (206) 726-1233 with any questions. - [Session 4 - 2:15 pm](http://dev-pacnwresearch.pantheonsite.io/215-pm-session-4/) - Questions Contact the Development Team via our contact form or call (206) 726-1233 with any questions. - [Session 5 - 3:40 pm](http://dev-pacnwresearch.pantheonsite.io/340-pm-session-5/) - Questions Contact the Development Team via our contact form or call (206) 726-1233 with any questions. - [Clinical Coordinator](http://dev-pacnwresearch.pantheonsite.io/careers/clinical-coordinator/) - Clinical Coordinator The Hagopian Lab at the Pacific Northwest Research Institute (PNRI) in Seattle, WA is seeking a dedicated Clinical Coordinator who is passionate about contributing to the advancement of research and knowledge by joining a team of researchers, scientists, clinicians and doctors studying the root causes of type 1 diabetes. Responsibilities will include working both independently - [Test Form](http://dev-pacnwresearch.pantheonsite.io/test-form/) - Company representative as the opening speaker at the Company representative as the opening speaker at the Company representative as the opening speaker at the Company representative as the opening speaker at the Company representative as the opening speaker at the Company representative as the opening speaker at the Company representative as the opening speaker at - [Episode 6: Patients + Researchers = Strength](http://dev-pacnwresearch.pantheonsite.io/podcasts/mystery-and-discovery/episode-6-patients-researchers-strength/) - Join PNRI CEO Jack Faris as he talks with Dr. Aimée Dudley about her groundbreaking genetic research using yeast to diagnose rare diseases, like urea cycle disorders in newborns. Discover her inspiring work! - [Episode 2: Demystifying Nature vs. Nurture](http://dev-pacnwresearch.pantheonsite.io/podcasts/mystery-and-discovery/episode-2-demystifying-nature-vs-nurture/) - In this episode of PNRI Science: Mystery and Discovery, PNRI CEO Jack Faris talks with Dr. Lisa Stubbs about the intricate dance between nature and nurture. They explore how chronic stress and genetics shape pregnancy outcomes, drawing inspiration from everything from octopuses to the Human Genome Project. - [Episode 1: Driven by the Question](http://dev-pacnwresearch.pantheonsite.io/podcasts/mystery-and-discovery/driven-by-the-question/) - [Episode 5: Science Is a Social Experiment](http://dev-pacnwresearch.pantheonsite.io/podcasts/mystery-and-discovery/episode-5-science-is-a-social-experiment/) - In this PNRI Science: Mystery and Discovery episode, Dr. Cláudia Carvalho shares how global teamwork is driving breakthroughs in uncovering genetic causes of rare diseases. - [Episode 4: Future of Healthcare From a Clam](http://dev-pacnwresearch.pantheonsite.io/podcasts/mystery-and-discovery/episode-4-future-of-healthcare-from-a-clam/) - In this episode of PNRI Science: Mystery and Discovery, PNRI CEO Jack Faris talks with PNRI Assistant Investigator Dr. Michael Metzger about a fascinating 400-year-old contagious cancer found in clams. Could these clams hold the key to unlocking cancer resistance in humans? - [Connect with PNRI](http://dev-pacnwresearch.pantheonsite.io/about/connect/) - Stay Connected. Get Inspired. At PNRI, we are committed to advancing groundbreaking genetic research and fostering a community of individuals passionate about science and discovery. We believe that the journey of scientific exploration is most rewarding when shared, and we want you to be a part of it! By signing up for our email list, - [Episode 3: Tracking Ghosts](http://dev-pacnwresearch.pantheonsite.io/podcasts/mystery-and-discovery/episode-3-tracking-ghosts-diabetes/) - In this episode of PNRI Science: Mystery and Discovery, PNRI CEO Jack Faris interviews Dr. Bill Hagopian and Michael Killian on the TEDDY study, uncovering environmental triggers for type 1 diabetes through decades of research. - [2024 Summer Undergraduate Research Internship (SURI)](http://dev-pacnwresearch.pantheonsite.io/careers/2024-suri/) - To apply, complete and submit the application form below and include the following items: Résumé, which should include a brief description of the science, math, and computer science classes you have taken One-page statement describing 1) how participation in the internship will enhance your education and career goals; 2) which lab(s) most interest(s) you and - [The Galas Project](http://dev-pacnwresearch.pantheonsite.io/stubbs-lab/the-galas-project/) - PNRI's Galas Project focuses on understanding the interplay between stress and genetics to affect pregnancy outcomes, particularly among underrepresented women. - [2024 Rare Disease Hackathon - Event Info](http://dev-pacnwresearch.pantheonsite.io/2024-rare-disease-hackathon-event-info/) - Event Info Schedule Travel Registration About the Hackathon You are invited to the inaugural PNRI Rare Disease Hackathon, taking place from May 24th to May 26th! Join us for an in-person, work-intensive gathering where we will explore genetics and genomics strategies aimed at uncovering pathogenic DNA variantsin unresolved rare disease cohorts, a collaborative focus of - [Thank you for giving to the Future Breakthroughs Fund!](http://dev-pacnwresearch.pantheonsite.io/thank-you-giving-to-the-future-breakthroughs-fund/) - We are so grateful to have you with us as a monthly donor to the Future Breakthroughs Fund. Your generosity is deeply meaningful to us. Thank you for investing in the next big breakthrough from our labs. Together we are improving human health for generations to come. Questions Contact the Development Team via our contact - [Ways to Give](http://dev-pacnwresearch.pantheonsite.io/ways-to-give/) - Your gift supports PNRI’s pioneering genetic research that pushes the boundaries of what’s possible in science and medicine. Pacific Northwest Research Institute is a 501(c)3 nonprofit organization with the Federal Tax ID# 91-0667886. Donations to PNRI are tax-deductible to the maximum extent allowed by law. PNRI Offers a Variety of Ways to Support Our Work - [David J. Galas Tribute Events](http://dev-pacnwresearch.pantheonsite.io/events/galastribute/) - David J. Galas, PhD1944 - 2023 David J. Galas Tribute Events Hosts: Galas/Isonaka Families & PNRIHonorary Hosts: The Fannie and John Hertz Foundation and Washington Research Foundation Saturday, May 4: PNRI Lab Tours & ReceptionSunday, May 5: Galas Tribute Event & Reception Sunday, May 5, 2024: Galas Tribute Event Guests are welcome to join the - [Celebrate Rare Disease Day at PNRI](http://dev-pacnwresearch.pantheonsite.io/events/rarediseaseday/) - Rare Disease Day 2024 Please join us for an intimate event at PNRI to celebrate Rare Disease Day. On Wednesday, February 28th, we have a limited number of 20 VIP seats available to experience two powerful speakers sharing their work on rare diseases from very different perspectives. Our first speaker is a mother of children - [Your Support Powers the Dudley Lab's Life-Saving Research Advances](http://dev-pacnwresearch.pantheonsite.io/supportdudleylab/) - Donate Today to Support the Dudley Lab's Groundbreaking Research! A new genetic screening tool developed by the Dudley Lab is revolutionizing the speed and accuracy with which physicians can diagnose urea cycle disorders in infants. These inherited metabolic diseases cause toxic levels of ammonia to build up in the body, potentially leading to severe debilitation or even death - [Donate Now](http://dev-pacnwresearch.pantheonsite.io/donate-now/) - Your gift to the Pacific Northwest Research Institute (PNRI) supports our work to unravel the powerful mysteries of the human genome to drive future medical breakthroughs. Together, we are improving human health for generations to come. Gifts of all sizes make a meaningful difference in accelerating groundbreaking genetics research. Thank you for making a gift today! PNRI is a - [Bold Breakthroughs](http://dev-pacnwresearch.pantheonsite.io/boldbreakthroughs/) - Sponsors PNRI is proud to have hosted Bold Breakthroughs with the support of our sponsors: Thank you to our winery partners! Questions Contact the Development Team via our contact form or call (206) 726-1233 with any questions you may have about giving to PNRI. We appreciate your support. - [Revolutionizing the diagnosis and treatment of inherited metabolic diseases](http://dev-pacnwresearch.pantheonsite.io/dudleyresearch/) - Support PNRI's Pioneering Research this Season This holiday season, you can help ensure that life-saving technologies from PNRI's labs reach the patients that need them most. A recent breakthrough from PNRI’s Dudley Lab exemplifies what is possible when bold independent research receives the resources necessary to deliver meaningful help impact. Donate today at the bottom - [2023 Summer Undergraduate Research Internship (SURI)](http://dev-pacnwresearch.pantheonsite.io/careers/2023-summer-undergraduate-research-internship-suri/) - Note: We are no longer accepting 2023 Summer Undergraduate Research Internship applications. Please check back later this year for information about the 2024 Summer Undergraduate Research Internship. The Pacific Northwest Research Institute (PNRI) Summer Undergraduate Research Internship (SURI) is a research-intensive, nine-week program for undergraduate students who have an interest in pursuing a career - [Sorry!](http://dev-pacnwresearch.pantheonsite.io/email-error/) - We were unable to process your request. Please go back and try again. - [Contact Us](http://dev-pacnwresearch.pantheonsite.io/contact-us/) - Email Please choose a recipient from the drop-down menu in the form below to reach us by email. Mailing Address Pacific Northwest Research Institute720 Broadway, Seattle, WA 98122 Phone (206) 726-1200 (local)(800) 745-1527 (toll-free)(206) 726-1217 (fax) Stay Connected LinkedIn Instagram Twitter Facebook Our Location 720 Broadway, Seattle, WA 98122 Directions From North Seattle (I-5 Southbound): - [Thank You!](http://dev-pacnwresearch.pantheonsite.io/email-thank-you/) - You have subscribed to our email list to receive news and updates from PNRI. A confirmation email will be sent shortly to the address you provided. Please confirm your subscription to complete this process. If you do not see the confirmation email in your inbox, check your Spam or Junk folder. To make sure all - [Corporate Giving](http://dev-pacnwresearch.pantheonsite.io/corporate-giving/) - Your corporate gift to PNRI supports the innovative research happening every day in our labs. As a partner in advancing the field of genetics, we are proud to feature your company in a way that promotes our shared commitment to scientific discovery. See below for options to engage with PNRI and work together to improve - [Integrating genomic and deep clinical data to facilitate discovery of novel genes and disease mechanisms in rare diseases ](http://dev-pacnwresearch.pantheonsite.io/carvalho-lab/investigating-functional-effects-of-novel-pathogenic-dna-variants-using-induced-pluripotent-stem-cell-disease-models-ips/) - De novo indels are a recurrent cause of Robinow Syndrome (RS), a skeletal dysplasia accompanied by facial cleft, macrocephaly, and cardiac malformations. The molecular cause of the dominant form remained mostly unknown for 50 years. The Carvalho Lab teamed up with the Centers for Mendelian Genomics (CMG) to perform high-coverage, exome sequencing in probands with RS - [The impact of hidden copy-number variants to birth defects and rare genetic diseases](http://dev-pacnwresearch.pantheonsite.io/carvalho-lab/the-impact-of-hidden-copy-number-variants-to-birth-defects-and-rare-genetic-diseases/) - Genetic aberrations are the most common cause of first trimester pregnancy losses (> 50%) and constitute the leading cause of birth defects with known etiologies in live-born infants of developed countries. Chromosomal abnormalities such as trisomy 13, 18, 21 and X/Y are found in up to 0.3% of all newborn infants and constitute a significant - [Legacy Giving](http://dev-pacnwresearch.pantheonsite.io/legacy-giving/) - Our history includes six decades of driven exploration and groundbreaking contributions to improving human health. PNRI maintains our founder Bill Hutchinson’s original vision: investigators fearlessly pursuing innovative scientific discoveries. Today, after six decades of groundbreaking research, we remain rooted in our mission to discover answers to the most pressing questions in science and medicine. The - [Investigating the structure and formation mechanism of pathogenic structural variants in rare diseases](http://dev-pacnwresearch.pantheonsite.io/carvalho-lab/investigating-the-structure-origin-and-mechanism-of-generation-of-pathogenic-structural-variants-in-rare-diseases/) - Structural variants (SVs) in the form of copy-number variants (CNVs), inversions, translocations, and insertions, are responsible for the expression of disease phenotypes and have a critical role in human evolution. Despite its relevance, SVs lack basic information such as somatic and germline de novo formation rate, mutational signatures associated with DNA metabolic processes and specific - [How do cancers evolve together with their hosts?](http://dev-pacnwresearch.pantheonsite.io/metzger-lab/how-do-cancers-evolve-together-with-their-hosts/) - All cancer evolves—cells multiply and the ones that are better able to survive and grow in the body will increase in number—but in humans this evolution usually has a short timescale. The unique transmissible cancers in clams and other species live far beyond a single host body—for hundreds or even thousands of years. This long-term - [How does transmissible cancer spread in clams and other bivalves?](http://dev-pacnwresearch.pantheonsite.io/metzger-lab/how-does-transmissible-cancer-spread-in-clams-and-other-bivalves/) - Transmissible cancer is a fatal infectious pathogen that infects many species of bivalve around the world, and it is a type of infectious disease that we have just recently discovered. The Metzger Lab is working together with researchers from other nonprofit institutions, universities, and Native Tribes locally and around the world to understand how transmissible - [How have clams evolved resistance to cancer?](http://dev-pacnwresearch.pantheonsite.io/metzger-lab/how-have-clams-evolved-resistance-to-cancer/) - Transmissible cancer in clams is different from the cancers in humans, but differences can be valuable. These infectious cancers have affected broad, diverse wild populations of clams, and evidence suggests that the clam populations have evolved resistance to the cancers. These outbreaks of infectious cancer are therefore unique natural experiments that we can use to - [Dudley Lab Highlight](http://dev-pacnwresearch.pantheonsite.io/dudley-lab/dudley-lab-highlight/) - Back to Dudley Lab Every expectant parent hopes to welcome a healthy baby into the world. Unfortunately, high-risk newborns with some genetic diseases appear healthy at birth but then rapidly deteriorate—they become lethargic, stop eating, develop seizures, and may progress to coma. For the physicians charged with their care, it’s a race against time to - [Improving the diagnosis and treatment of inherited metabolic diseases](http://dev-pacnwresearch.pantheonsite.io/dudley-lab/improving-the-diagnosis-and-treatment-of-inherited-metabolic-diseases/) - PNRI’s Dudley Lab has developed an experimental framework to accurately measure the functional impact of genetic variation in human protein coding sequences on a scale sufficient to analyze individual alleles and allele combinations comprehensively. The approach leverages large-scale gene synthesis and high throughput in vivo assays of protein function in model organisms, such as yeast. - [McLaughlin Lab Highlight](http://dev-pacnwresearch.pantheonsite.io/mclaughlin-lab/mclaughlin-lab-highlight/) - Back to McLaughlin Lab At PNRI, curiosity illuminates paths to discovery. Sometimes the route to a future medical breakthrough winds an unconventional trail. PNRI’s McLaughlin Lab focuses on one of the areas of the human genome that we know the least about. The lab investigates how diseases develop from the movement of retroelements: nimble, virus-like - [Recent News](http://dev-pacnwresearch.pantheonsite.io/news/) - Recent Blog Posts Read More Recent Media Coverage Media Requests Please visit our Media Inquiries page to contact us with your request. - [Sorry!](http://dev-pacnwresearch.pantheonsite.io/science-matters-error/) - There has been an issue in signing up for PNRI's Science Matters email list. - [Thank You!](http://dev-pacnwresearch.pantheonsite.io/science-matters-thank-you/) - Thank you for signing up for PNRI's Science Matters email list. - [404 - Page Not Found](http://dev-pacnwresearch.pantheonsite.io/custom-404/) - Sitemap Home Labs Carvalho Lab Carvalho Lab Highlight Integrating genomic, transcriptomic and epigenomic data with robust clinical information and quantitative phenotypic analysis to gain insight into disease mechanisms Investigating functional effects of novel pathogenic DNA variants using induced pluripotent stem cell disease models (iPS) Investigating the structure, origin and mechanism of generation of pathogenic Structural - [Publications](http://dev-pacnwresearch.pantheonsite.io/publications/) - From Lab All Carvalho Lab Dudley Lab Galas Lab Hagopian Lab McLaughlin Lab Metzger Lab Stubbs Lab Search - [Donor Events](http://dev-pacnwresearch.pantheonsite.io/events/donor-events/) - Next Upcoming Donor Event 20 October, 2023 5:30pm (PDT) Bold Breakthroughs Donor Event Join PNRI for Bold Breakthroughs: a night of thrilling discovery and fine wine on Friday, October 20, 2023. We invite you to an evening that brings the cutting-edge genetics research from our labs to the beautiful AXIS venue in Pioneer Square. Read - [Decoding Stress Lab Highlights](http://dev-pacnwresearch.pantheonsite.io/decoding-stress-lab-highlights/) - Chronic stress is linked to several conditions such as anxiety, depression, type 2 diabetes (T2D), and heart disease. PNRI’s Decoding Stress Study aims to identify connections between human genes and stress response. Key to this study is not only assessing a person’s likelihood of developing a particular disease, but also examining the genes of people - [Metzger Lab Highlight](http://dev-pacnwresearch.pantheonsite.io/metzger-lab/metzger-lab-highlight/) - Back to Metzger Lab To create effective cancer treatments in the future, we need to understand how cancer evolves. PNRI’s Metzger Lab researches the evolution of cancer from a surprising angle: studying contagious cancer in marine bivalves, like clams and cockles. With the support of a grant from the National Science Foundation’s (NSF) Division of - [Hagopian Lab Highlight](http://dev-pacnwresearch.pantheonsite.io/hagopian-lab/hagopian-lab-highlight/) - Back to Hagopian Lab Collaboration guides PNRI’s relentless pursuit of discovery. Our work is strengthened by scientific partnerships across the globe, working together to solve the most pressing questions in science and medicine. A quest that often spans multiple decades. PNRI’s Hagopian Lab focuses their research on ways to predict and prevent type 1 diabetes - [Galas Lab Highlight](http://dev-pacnwresearch.pantheonsite.io/galas-lab/galas-lab-highlight/) - Back to Galas Lab PNRI mourns the loss of David J. Galas, PhD, who passed away in 2023 after a hard-fought battle with cancer. Dr. Galas was an expert in molecular biology and genetics whose long and distinguished career led to contributions in the fields of physics, mathematics, and biology. While his past research included - [Carvalho Lab Highlight](http://dev-pacnwresearch.pantheonsite.io/carvalho-lab/carvalho-lab-highlight/) - Back to Carvalho Lab At PNRI, we believe studying rare genetic diseases not only leads to discoveries that save lives, but can also unlock mysteries surrounding more widespread illnesses. PNRI’s Carvalho Lab focuses on rare diseases by exploring a new field of genetics that studies structural variants. Her lab’s work aims to understand how seemingly - [Coevolution of genomes and transposable elements](http://dev-pacnwresearch.pantheonsite.io/mclaughlin-lab/coevolution-of-genomes-and-transposable-elements/) - Fascinated by the scale of the impact transposable elements have had on the human genome (around half of the human genome comes from these elements), The McLaughlin Lab wants to understand the genetic mechanisms used by humans to defend against retroelements and the genetic mechanisms used by retroelements to support their own propagation. This lab - [Decoding Stress](http://dev-pacnwresearch.pantheonsite.io/galas-lab/decoding-stress-galas/) - Stressful life circumstances have long been associated with negative health outcomes, including type 2 diabetes (T2D), cardiovascular disease, insomnia, anxiety, depression, and Alzheimer’s disease. Susceptibility to these stress-linked disorders depends on both environmental and genetic components, and even family members living under the same stressful circumstances can vary widely in health outcomes. PNRI’s Decoding Stress - [Retrogenes](http://dev-pacnwresearch.pantheonsite.io/mclaughlin-lab/retrogenes/) - Retroviruses complete their life cycle by exploiting host cellular mechanisms and bypassing host restriction factors. Because of the unique life cycle based on reverse transcriptase (RT)-mediated integration/replication, retroviruses present a unique set of challenges to the host immune system; however, these viruses also routinely copy host mRNAs into new gene copies called ‘retrocopies’. Thousands of - [Stock Transfers](http://dev-pacnwresearch.pantheonsite.io/stock-transfers/) - Our Broker:Charles Schwab 508 Union Street,Seattle, WA 98101206-287-3816 Gifts to Pacific Northwest Research Institute (PNRI):DTC #0164Corporation: Pacific Northwest Research InstituteIRS EIN: 91-0667886IRS Status: 501(c)(3) Account number: 8157-7983 Please note that stock gifts are transferred to PNRI without donor information. If you would like to receive acknowledgement of your stock donation, please email us at development@pnri.org after the gift has been - [Mechanism of AUTS2-linked neurodevelopmental disorders](http://dev-pacnwresearch.pantheonsite.io/stubbs-lab/mechanism-of-auts2-linked-neurodevelopmental-disorders/) - It is becoming increasingly clear that neurodevelopmental disorders with very distinct clinical presentations nonetheless share common genetic mechanisms, and an increasing number of genes are now linked to multiple forms of neurological disease. These genes, which “confer risk across diagnostic boundaries,” are frequently found to be higher-level developmental regulators that orchestrate neuron differentiation, migration, and - [The T1DI study to understand how to use islet autoantibodies to better predict T1D.](http://dev-pacnwresearch.pantheonsite.io/hagopian-lab/the-t1di-study-to-understand-how-to-use-islet-autoantibodies-to-better-predict-t1d/) - [The TEDDY study to follow thousands of kids from age 3 mo to age 15 yrs, to find environmental triggers of T1D, CD and thyroid disease.](http://dev-pacnwresearch.pantheonsite.io/hagopian-lab/the-teddy-study-to-follow-thousands-of-kids-from-age-3-mo-to-age-15-yrs-to-find-environmental-triggers-of-t1d-cd-and-thyroid-disease/) - [The CASCADE study to predict T1D and CD in young children to prepare for newborn screening adoption.](http://dev-pacnwresearch.pantheonsite.io/hagopian-lab/the-cascade-study-to-predict-t1d-and-cd-in-young-children-to-prepare-for-newborn-screening-adoption/) - [Terms of Use](http://dev-pacnwresearch.pantheonsite.io/terms-of-use/) - This web page represents our Terms of Use and Sale ("Agreement") regarding our website, www.PNRI.org ("Website"). It was last posted on February 12, 2019. The terms, "we" and "our" as used in this Agreement refer to the Pacific Northwest Research Institute. We may amend this Agreement at any time by posting the amended terms on - [Privacy Policy](http://dev-pacnwresearch.pantheonsite.io/privacy-policy/) - Who we are Our website address is: https://www.pnri.org. What personal data we collect and why we collect it Comments When visitors leave comments on the site we collect the data shown in the comments form, and also the visitor’s IP address and browser user agent string to help spam detection. An anonymized string created from - [Associate or Senior Investigator – Genetics](http://dev-pacnwresearch.pantheonsite.io/careers/associate-or-senior-investigator-genetics/) - Job description PNRI is growing and is seeking mid-career candidates for faculty positions at the Associate or Senior Investigator level. We seek scientists with expertise in the application of integrative genomics approaches and in tool development to advance the understanding of human genetics. Successful candidates will have an independently funded research program, have research interests that are - [John Wecker](http://dev-pacnwresearch.pantheonsite.io/about/john-wecker/) - [Support](http://dev-pacnwresearch.pantheonsite.io/support/) - [Admintools](http://dev-pacnwresearch.pantheonsite.io/admintools/) - [at3 forms](http://dev-pacnwresearch.pantheonsite.io/at3-forms/) - [Bot](http://dev-pacnwresearch.pantheonsite.io/bot/) - Recaptcha has flagged your computer as a spam source or "bot". If you feel this is in error, please contact us. - [Dashboard](http://dev-pacnwresearch.pantheonsite.io/dashboard/) - [Sign In](http://dev-pacnwresearch.pantheonsite.io/sign-in/) - [Sign Out](http://dev-pacnwresearch.pantheonsite.io/sign-out/) - [Profile](http://dev-pacnwresearch.pantheonsite.io/dashboard/profile/) - [Recover User Name](http://dev-pacnwresearch.pantheonsite.io/sign-in/recover-user-name/) - [Reset Password](http://dev-pacnwresearch.pantheonsite.io/sign-in/reset-password/) - [Sign Up](http://dev-pacnwresearch.pantheonsite.io/sign-in/sign-up/) ## Publications - [Variation in Natural Infection Outcomes and Cancer Cell Release from Soft-Shell Clams (Mya arenaria) with Bivalve Transmissible Neoplasia](http://dev-pacnwresearch.pantheonsite.io/publication/variation-in-natural-infection-outcomes-and-cancer-cell-release-from-soft-shell-clams-mya-arenaria-with-bivalve-transmissible-neoplasia/) - [Two commonly reported incidental variants in OTC are associated with late-onset disease](http://dev-pacnwresearch.pantheonsite.io/publication/p007-a-case-series-and-functional-study-of-two-commonly-reported-pathogenic-variants-in-otc-supports-a-hypomorphic-classification/) - [GREGoR: accelerating genomics for rare diseases](http://dev-pacnwresearch.pantheonsite.io/publication/gregor-accelerating-genomics-for-rare-diseases-2/) - [Two commonly reported incidental variants in OTC are associated with late-onset disease](http://dev-pacnwresearch.pantheonsite.io/publication/two-commonly-reported-incidental-variants-in-otc-are-associated-with-late-onset-disease/) - [Pervasive context-dependent effects in the genetic architecture of complex and quantitative traits revealed by a powerful multiparent mapping population in yeast](http://dev-pacnwresearch.pantheonsite.io/publication/pervasive-context-dependent-effects-in-the-genetic-architecture-of-complex-and-quantitative-traits-revealed-by-a-powerful-multiparent-mapping-population-in-yeast/) - [CYClones: A highly powered, fully genotyped, 8-parent yeast mapping population](http://dev-pacnwresearch.pantheonsite.io/publication/cyclones-a-highly-powered-fully-genotyped-8-parent-yeast-mapping-population/) - [An integrated platform for concurrent structural and single-nucleotide variants improves copy-number detection and reveals pathogenic alleles in undiagnosed Mendelian families](http://dev-pacnwresearch.pantheonsite.io/publication/an-integrated-platform-for-concurrent-structural-and-single-nucleotide-variants-improves-copy-number-detection-and-reveals-pathogenic-alleles-in-undiagnosed-mendelian-families/) - [Phase Separation Contributes to Pathogenicity for Nonsense Mediated Decay-Escaping Variant Alleles](http://dev-pacnwresearch.pantheonsite.io/publication/phase-separation-contributes-to-pathogenicity-for-nonsense-mediated-decay-escaping-variant-alleles/) - [Insight into MECP2 Duplication Syndrome: Unraveling Disease Severity and Expression Variability using Multiomics and Deep Phenotyping](http://dev-pacnwresearch.pantheonsite.io/publication/insight-into-mecp2-duplication-syndrome-unraveling-disease-severity-and-expression-variability-using-multiomics-and-deep-phenotyping/) - [Constellation illuminates rare disease genetics](http://dev-pacnwresearch.pantheonsite.io/publication/constellation-illuminates-rare-disease-genetics/) - [A telomere-to-telomere map of somatic mutation burden and functional impact in cancer](http://dev-pacnwresearch.pantheonsite.io/publication/a-telomere-to-telomere-map-of-somatic-mutation-burden-and-functional-impact-in-cancer/) - [Functional Profiling of 2,193 ASS1 Missense Variants: Insights into Variant Pathogenicity and Epistatic Interactions in Citrullinemia Type I](http://dev-pacnwresearch.pantheonsite.io/publication/functional-profiling-of-2193-ass1-missense-variants-insights-into-variant-pathogenicity-and-epistatic-interactions-in-citrullinemia-type-i/) - [Expectations for papers performing Mendelian randomization analyses](http://dev-pacnwresearch.pantheonsite.io/publication/expectations-for-papers-performing-mendelian-randomization-analyses/) - [Community-Driven Copy Number Variant Discovery at Scale: Results from a Rare Disease Genomics Hackathon](http://dev-pacnwresearch.pantheonsite.io/publication/community-driven-copy-number-variant-discovery-at-scale-results-from-a-rare-disease-genomics-hackathon/) - [P330: Understanding the disease mechanisms and copy number variations at 17p11.2 locus that do not encompass the dosage sensitive RAI1 gene](http://dev-pacnwresearch.pantheonsite.io/publication/p330-understanding-the-disease-mechanisms-and-copy-number-variations-at-17p11-2-locus-that-do-not-encompass-the-dosage-sensitive-rai1-gene/) - [11: To remap or not to remap: the relevance of the genome references to resolve rare inversions](http://dev-pacnwresearch.pantheonsite.io/publication/11-to-remap-or-not-to-remap-the-relevance-of-the-genome-references-to-resolve-rare-inversions/) - [Pathogenic DVL frameshifting variants in Robinow syndrome disrupt WNT signaling and cellular dynamics](http://dev-pacnwresearch.pantheonsite.io/publication/pathogenic-dvl-frameshifting-variants-in-robinow-syndrome-disrupt-wnt-signaling-and-cellular-dynamics/) - [A hypomorphic model of CPS1 deficiency for investigating the effects of hyperammonemia on the developing nervous system](http://dev-pacnwresearch.pantheonsite.io/publication/a-hypomorphic-model-of-cps1-deficiency-for-investigating-the-effects-of-hyperammonemia-on-the-developing-nervous-system/) - [High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive catalog of human genetic variation](http://dev-pacnwresearch.pantheonsite.io/publication/high-coverage-nanopore-sequencing-of-samples-from-the-1000-genomes-project-to-build-a-comprehensive-catalog-of-human-genetic-variation/) - [Multiple lineages of transmissible neoplasia in the basket cockle (Clinocardium nuttallii) with repeated horizontal transfer of mitochondrial DNA](http://dev-pacnwresearch.pantheonsite.io/publication/multiple-lineages-of-transmissible-neoplasia-in-the-basket-cockle-clinocardium-nuttallii-with-repeated-horizontal-transfer-of-mitochondrial-dna/) - [Identification of an Outbreak of Bivalve Transmissible Neoplasia in Soft-Shell Clams (Mya arenaria) in the Puget Sound Using Hemolymph and eDNA Surveys](http://dev-pacnwresearch.pantheonsite.io/publication/identification-of-an-outbreak-of-bivalve-transmissible-neoplasia-in-soft-shell-clams-mya-arenaria-in-the-puget-sound-using-hemolymph-and-edna-surveys/) - [Identification and expression analysis of two steamer-like retrotransposons in the Chilean blue mussel (Mytilus chilensis)](http://dev-pacnwresearch.pantheonsite.io/publication/identification-and-expression-analysis-of-two-steamer-like-retrotransposons-in-the-chilean-blue-mussel-mytilus-chilensis/) - [Application of Hemolymph Smear Histology Diagnosis to Detect Disseminated Neoplasia in Basket Cockles (Clinocardium nuttallii)](http://dev-pacnwresearch.pantheonsite.io/publication/application-of-hemolymph-smear-histology-diagnosis-to-detect-disseminated-neoplasia-in-basket-cockles-clinocardium-nuttallii/) - [Gene expression in soft-shell clam (Mya arenaria) transmissible cancer reveals survival mechanisms during host infection and seawater transfer](http://dev-pacnwresearch.pantheonsite.io/publication/gene-expression-in-soft-shell-clam-mya-arenaria-transmissible-cancer-reveals-survival-mechanisms-during-host-infection-and-seawater-transfer/) - [Genome-wide maps of highly-similar intrachromosomal repeats that can mediate ectopic recombination in three human genome assemblies](http://dev-pacnwresearch.pantheonsite.io/publication/genome-wide-maps-of-highly-similar-intrachromosomal-repeats-that-can-mediate-ectopic-recombination-in-three-human-genome-assemblies/) - [Investigation of a pathogenic inversion in UNC13D and comprehensive analysis of chromosomal inversions across diverse datasets](http://dev-pacnwresearch.pantheonsite.io/publication/investigation-of-a-pathogenic-inversion-in-unc13d-and-comprehensive-analysis-of-chromosomal-inversions-across-diverse-datasets-2/) - [Peto’s Paradox Is Dead. Long Live Peto’s Paradox](http://dev-pacnwresearch.pantheonsite.io/publication/petos-paradox-is-dead-long-live-petos-paradox/) - [Spatiotemporal patterns of gene expression during development of a complex colony morphology](http://dev-pacnwresearch.pantheonsite.io/publication/spatiotemporal-patterns-of-gene-expression-during-development-of-a-complex-colony-morphology/) - [Onwards! Open science and the (PLOS) genetics community](http://dev-pacnwresearch.pantheonsite.io/publication/onwards-open-science-and-the-plos-genetics-community/) - [Poster# 023 Assessing the functional impact of ASL missense variants using high throughput yeast assays](http://dev-pacnwresearch.pantheonsite.io/publication/poster-023-assessing-the-functional-impact-of-asl-missense-variants-using-high-throughput-yeast-assays/) - [Genome sequencing differentiates a paracentric inversion from a balanced insertion enabling more accurate preimplantation genetic testing](http://dev-pacnwresearch.pantheonsite.io/publication/genome-sequencing-differentiates-a-paracentric-inversion-from-a-balanced-insertion-enabling-more-accurate-preimplantation-genetic-testing/) - [Investigation of a Pathogenic Inversion in UNC13D and Comprehensive Analysis of Chromosomal Inversions Across Diverse Datasets](http://dev-pacnwresearch.pantheonsite.io/publication/investigation-of-a-pathogenic-inversion-in-unc13d-and-comprehensive-analysis-of-chromosomal-inversions-across-diverse-datasets/) - [VizCNV: An integrated platform for concurrent phased BAF and CNV analysis with trio genome sequencing data](http://dev-pacnwresearch.pantheonsite.io/publication/vizcnv-an-integrated-platform-for-concurrent-phased-baf-and-cnv-analysis-with-trio-genome-sequencing-data/) - [GREGoR: Accelerating Genomics for Rare Diseases](http://dev-pacnwresearch.pantheonsite.io/publication/gregor-accelerating-genomics-for-rare-diseases/) - [Modeling antisense oligonucleotide therapy in MECP2 duplication syndrome human iPSC-derived neurons reveals gene expression programs responsive to MeCP2 levels](http://dev-pacnwresearch.pantheonsite.io/publication/modeling-antisense-oligonucleotide-therapy-in-mecp2-duplication-syndrome-human-ipsc-derived-neurons-reveals-gene-expression-programs-responsive-to-mecp2-levels/) - [Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gaps](http://dev-pacnwresearch.pantheonsite.io/publication/leveraging-the-t2t-assembly-to-resolve-rare-and-pathogenic-inversions-in-reference-genome-gaps/) - [Structural variant allelic heterogeneity in MECP2duplication syndrome provides insight into clinical severity and variability of disease expression](http://dev-pacnwresearch.pantheonsite.io/publication/structural-variant-allelic-heterogeneity-in-mecp2duplication-syndrome-provides-insight-into-clinical-severity-and-variability-of-disease-expression/) - [Inverted triplications formed by iterative template switches generate structural variant diversity at genomic disorder loci](http://dev-pacnwresearch.pantheonsite.io/publication/inverted-triplications-formed-by-iterative-template-switches-generate-structural-variant-diversity-at-genomic-disorder-loci/) - [A combination of long and short read genomics reveals frequent p-arm breakpoints within chromosome 21 complex genomic rearrangements](http://dev-pacnwresearch.pantheonsite.io/publication/a-combination-of-long-and-short-read-genomics-reveals-frequent-p-arm-breakpoints-within-chromosome-21-complex-genomic-rearrangements/) - [Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles](http://dev-pacnwresearch.pantheonsite.io/publication/variant-specific-pathophysiological-mechanisms-of-aff3-differently-influence-transcriptome-profiles-2/) - [A germline chimeric KANK1-DMRT1transcript derived from a complex structural variant is associated with a congenital heart defect segregating across five generations](http://dev-pacnwresearch.pantheonsite.io/publication/a-germline-chimeric-kank1-dmrt1transcript-derived-from-a-complex-structural-variant-is-associated-with-a-congenital-heart-defect-segregating-across-five-generations/) - [Closing the gap: Solving complex medically relevant genes at scale](http://dev-pacnwresearch.pantheonsite.io/publication/closing-the-gap-solving-complex-medically-relevant-genes-at-scale/) - [Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation](http://dev-pacnwresearch.pantheonsite.io/publication/nanopore-sequencing-of-1000-genomes-project-samples-to-build-a-comprehensive-catalog-of-human-genetic-variation/) - [Evolutionary insights from profiling LINE-1 activity at allelic resolution in a single human genome](http://dev-pacnwresearch.pantheonsite.io/publication/evolutionary-insights-from-profiling-line-1-activity-at-allelic-resolution-in-a-single-human-genome/) - [Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles](http://dev-pacnwresearch.pantheonsite.io/publication/variant-specific-pathophysiological-mechanisms-of-aff3-differently-influence-transcriptome-profiles/) - [Genome-wide maps of highly‐similar intrachromosomal repeats that mediate ectopic recombination in three human genome assemblies](http://dev-pacnwresearch.pantheonsite.io/publication/genome-wide-maps-of-highly‐similar-intrachromosomal-repeats-that-mediate-ectopic-recombination-in-three-human-genome-assemblies/) - [In trans reciprocal deletion and duplication of the NXN gene causing Robinow syndrome escaping routine diagnostic testing](http://dev-pacnwresearch.pantheonsite.io/publication/in-trans-reciprocal-deletion-and-duplication-of-the-nxn-gene-causing-robinow-syndrome-escaping-routine-diagnostic-testing/) - [A complex 9p24 cryptic rearrangement segregating with heart defect in five generations unraveled using a combined genomics approach of chromosomal microarray, FISH, whole …](http://dev-pacnwresearch.pantheonsite.io/publication/a-complex-9p24-cryptic-rearrangement-segregating-with-heart-defect-in-five-generations-unraveled-using-a-combined-genomics-approach-of-chromosomal-microarray-fish-whole/) - [Long-read genome sequencing required to resolve complex chromosomal rearrangements involving both the short and the long arm of chromosome 21](http://dev-pacnwresearch.pantheonsite.io/publication/long-read-genome-sequencing-required-to-resolve-complex-chromosomal-rearrangements-involving-both-the-short-and-the-long-arm-of-chromosome-21/) - [The impact of the Turkish (TK) population variome on the genomic architecture of rare disease traits](http://dev-pacnwresearch.pantheonsite.io/publication/the-impact-of-the-turkish-tk-population-variome-on-the-genomic-architecture-of-rare-disease-traits/) - [Genomic Balancing Act: Deciphering DNA rearrangements in the Complex Chromosomal Aberration involving 5p15.2, 2q31.1 and 18q21.32](http://dev-pacnwresearch.pantheonsite.io/publication/genomic-balancing-act-deciphering-dna-rearrangements-in-the-complex-chromosomal-aberration-involving-5p15-2-2q31-1-and-18q21-32/) - [Break-induced replication underlies formation of inverted triplications and generates unexpected diversity in haplotype structures](http://dev-pacnwresearch.pantheonsite.io/publication/break-induced-replication-underlies-formation-of-inverted-triplications-and-generates-unexpected-diversity-in-haplotype-structures/) - [HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data](http://dev-pacnwresearch.pantheonsite.io/publication/hmzdupfinder-a-robust-computational-approach-for-detecting-intragenic-homozygous-duplications-from-exome-sequencing-data/) - [OC 57.4 Deciphering Novel Complex Structural Variations in Severe Hemophilia a Patients by Optical Genome Mapping](http://dev-pacnwresearch.pantheonsite.io/publication/oc-57-4-deciphering-novel-complex-structural-variations-in-severe-hemophilia-a-patients-by-optical-genome-mapping/) - [Deciphering a novel complex inversion affecting F8 in a family with severe haemophilia A by optical genome mapping](http://dev-pacnwresearch.pantheonsite.io/publication/deciphering-a-novel-complex-inversion-affecting-f8-in-a-family-with-severe-haemophilia-a-by-optical-genome-mapping/) - [Detection of mosaic and population-level structural variants with Sniffles2](http://dev-pacnwresearch.pantheonsite.io/publication/detection-of-mosaic-and-population-level-structural-variants-with-sniffles2/) - [Generation of five induced pluripotent stem cell lines from patients with MECP2 Duplication Syndrome](http://dev-pacnwresearch.pantheonsite.io/publication/generation-of-five-induced-pluripotent-stem-cell-lines-from-patients-with-mecp2-duplication-syndrome/) - [T7 RNA Polymerase-Dependent Expression of COXII in Yeast Mitochondria](http://dev-pacnwresearch.pantheonsite.io/publication/t7-rna-polymerase-dependent-expression-of-coxii-in-yeast-mitochondria/) - [Identification and Analysis of Mot3, a Zinc Finger Protein That Binds to the Retrotransposon Ty Long Terminal Repeat (δ) in Saccharomyces cerevisiae](http://dev-pacnwresearch.pantheonsite.io/publication/identification-and-analysis-of-mot3-a-zinc-finger-protein-that-binds-to-the-retrotransposon-ty-long-terminal-repeat-δ-in-saccharomyces-cerevisiae/) - [Specific Components of the SAGA Complex Are Required for Gcn4- and Gcr1-Mediated Activation of the his4-912δ Promoter in Saccharomyces cerevisiae ](http://dev-pacnwresearch.pantheonsite.io/publication/specific-components-of-the-saga-complex-are-required-for-gcn4-and-gcr1-mediated-activation-of-the-his4-912δ-promoter-in-saccharomyces-cerevisiae/) - 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[The Environmental Determinants of Diabetes in the Young (TEDDY) Study: 2018 Update](http://dev-pacnwresearch.pantheonsite.io/publication/the-environmental-determinants-of-diabetes-in-the-young-teddy-study-2018-update/) - [The human gut microbiome in early-onset type 1 diabetes from the TEDDY study](http://dev-pacnwresearch.pantheonsite.io/publication/the-human-gut-microbiome-in-early-onset-type-1-diabetes-from-the-teddy-study/) - [Temporal development of the gut microbiome in early childhood from the TEDDY study](http://dev-pacnwresearch.pantheonsite.io/publication/temporal-development-of-the-gut-microbiome-in-early-childhood-from-the-teddy-study/) - [Maternal dietary supplement use and development of islet autoimmunity in the offspring: TEDDY study](http://dev-pacnwresearch.pantheonsite.io/publication/maternal-dietary-supplement-use-and-development-of-islet-autoimmunity-in-the-offspring-teddy-study-2/) - [Maternal dietary supplement use and development of islet autoimmunity in the offspring: TEDDY study](http://dev-pacnwresearch.pantheonsite.io/publication/maternal-dietary-supplement-use-and-development-of-islet-autoimmunity-in-the-offspring-teddy-study/) - [Treatment of type 1 diabetes with teplizumab: clinical and immunological follow-up after 7 years from diagnosis](http://dev-pacnwresearch.pantheonsite.io/publication/treatment-of-type-1-diabetes-with-teplizumab-clinical-and-immunological-follow-up-after-7-years-from-diagnosis/) - [Predicting progression to type 1 diabetes from ages 3 to 6 in islet autoantibody positive TEDDY children](http://dev-pacnwresearch.pantheonsite.io/publication/predicting-progression-to-type-1-diabetes-from-ages-3-to-6-in-islet-autoantibody-positive-teddy-children/) - [Genetic Contribution to the Divergence in Type 1 Diabetes Risk Between Children From the General Population and Children From Affected Families](http://dev-pacnwresearch.pantheonsite.io/publication/genetic-contribution-to-the-divergence-in-type-1-diabetes-risk-between-children-from-the-general-population-and-children-from-affected-families/) - [Predicting Islet Cell Autoimmunity and Type 1 Diabetes: An 8-Year TEDDY Study Progress Report](http://dev-pacnwresearch.pantheonsite.io/publication/predicting-islet-cell-autoimmunity-and-type-1-diabetes-an-8-year-teddy-study-progress-report/) - [Early Probiotic Supplementation and the Risk of Celiac Disease in Children at Genetic Risk](http://dev-pacnwresearch.pantheonsite.io/publication/early-probiotic-supplementation-and-the-risk-of-celiac-disease-in-children-at-genetic-risk/) - [Association of Gluten Intake During the First 5 Years of Life With Incidence of Celiac Disease Autoimmunity and Celiac Disease Among Children at Increased Risk](http://dev-pacnwresearch.pantheonsite.io/publication/association-of-gluten-intake-during-the-first-5-years-of-life-with-incidence-of-celiac-disease-autoimmunity-and-celiac-disease-among-children-at-increased-risk/) - [Islet Autoantibody Standardization Program 2018 Workshop: Interlaboratory Comparison of Glutamic Acid Decarboxylase Autoantibody Assay Performance](http://dev-pacnwresearch.pantheonsite.io/publication/islet-autoantibody-standardization-program-2018-workshop-interlaboratory-comparison-of-glutamic-acid-decarboxylase-autoantibody-assay-performance/) - [The relationship between breastfeeding and reported respiratory and gastrointestinal infection rates in young children](http://dev-pacnwresearch.pantheonsite.io/publication/the-relationship-between-breastfeeding-and-reported-respiratory-and-gastrointestinal-infection-rates-in-young-children/) - 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[Distinct Growth Phases in Early Life Associated With the Risk of Type 1 Diabetes: The TEDDY Study](http://dev-pacnwresearch.pantheonsite.io/publication/distinct-growth-phases-in-early-life-associated-with-the-risk-of-type-1-diabetes-the-teddy-study/) - [Longitudinal Metabolome-Wide Signals Prior to the Appearance of a First Islet Autoantibody in Children Participating in the TEDDY Study](http://dev-pacnwresearch.pantheonsite.io/publication/longitudinal-metabolome-wide-signals-prior-to-the-appearance-of-a-first-islet-autoantibody-in-children-participating-in-the-teddy-study/) - [Hierarchical Order of Distinct Autoantibody Spreading and Progression to Type 1 Diabetes in the TEDDY Study](http://dev-pacnwresearch.pantheonsite.io/publication/hierarchical-order-of-distinct-autoantibody-spreading-and-progression-to-type-1-diabetes-in-the-teddy-study/) - [A single nucleotide polymorphism genetic risk score to aid diagnosis of coeliac disease: a pilot study in clinical care](http://dev-pacnwresearch.pantheonsite.io/publication/a-single-nucleotide-polymorphism-genetic-risk-score-to-aid-diagnosis-of-coeliac-disease-a-pilot-study-in-clinical-care/) - 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[Maternal food consumption during late pregnancy and offspring risk of islet autoimmunity and type 1 diabetes](http://dev-pacnwresearch.pantheonsite.io/publication/maternal-food-consumption-during-late-pregnancy-and-offspring-risk-of-islet-autoimmunity-and-type-1-diabetes/) - [Transcriptional networks in at-risk individuals identify signatures of type 1 diabetes progression](http://dev-pacnwresearch.pantheonsite.io/publication/transcriptional-networks-in-at-risk-individuals-identify-signatures-of-type-1-diabetes-progression/) - [Associations of breastfeeding with childhood autoimmunity, allergies, and overweight: The Environmental Determinants of Diabetes in the Young (TEDDY) study](http://dev-pacnwresearch.pantheonsite.io/publication/associations-of-breastfeeding-with-childhood-autoimmunity-allergies-and-overweight-the-environmental-determinants-of-diabetes-in-the-young-teddy-study/) - [Modeling Disease Progression Trajectories from Longitudinal Observational Data](http://dev-pacnwresearch.pantheonsite.io/publication/modeling-disease-progression-trajectories-from-longitudinal-observational-data/) - 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[25(OH)D Levels in Infancy Is Associated With Celiac Disease Autoimmunity in At-Risk Children: A Case-Control Study](http://dev-pacnwresearch.pantheonsite.io/publication/25ohd-levels-in-infancy-is-associated-with-celiac-disease-autoimmunity-in-at-risk-children-a-case-control-study/) - [Preventing type 1 diabetes in childhood](http://dev-pacnwresearch.pantheonsite.io/publication/preventing-type-1-diabetes-in-childhood/) - [Host autophagy mediates organ wasting and nutrient mobilization for tumor growth](http://dev-pacnwresearch.pantheonsite.io/publication/host-autophagy-mediates-organ-wasting-and-nutrient-mobilization-for-tumor-growth/) - [Peripheral autoreactive CD8 T-cell frequencies are too variable to be a reliable predictor of disease progression of human type 1 diabetes](http://dev-pacnwresearch.pantheonsite.io/publication/peripheral-autoreactive-cd8-t-cell-frequencies-are-too-variable-to-be-a-reliable-predictor-of-disease-progression-of-human-type-1-diabetes/) - [Latent Autoimmune Diabetes of Adults (LADA) Is Likely to Represent a Mixed Population of Autoimmune (Type 1) and Nonautoimmune (Type 2) Diabetes](http://dev-pacnwresearch.pantheonsite.io/publication/latent-autoimmune-diabetes-of-adults-lada-is-likely-to-represent-a-mixed-population-of-autoimmune-type-1-and-nonautoimmune-type-2-diabetes/) - [DR15-DQ6 remains dominantly protective against type 1 diabetes throughout the first five decades of life](http://dev-pacnwresearch.pantheonsite.io/publication/dr15-dq6-remains-dominantly-protective-against-type-1-diabetes-throughout-the-first-five-decades-of-life/) - [Natural abundance isotope ratios to differentiate sources of carbon used during tumor growth in vivo](http://dev-pacnwresearch.pantheonsite.io/publication/natural-abundance-isotope-ratios-to-differentiate-sources-of-carbon-used-during-tumor-growth-in-vivo/) - [Dynamic changes in immune gene co-expression networks predict development of type 1 diabetes](http://dev-pacnwresearch.pantheonsite.io/publication/dynamic-changes-in-immune-gene-co-expression-networks-predict-development-of-type-1-diabetes/) - [Correction to: DR15-DQ6 remains dominantly protective against type 1 diabetes throughout the first five decades of life](http://dev-pacnwresearch.pantheonsite.io/publication/correction-to-dr15-dq6-remains-dominantly-protective-against-type-1-diabetes-throughout-the-first-five-decades-of-life/) - [Islet Autoantibody Type-Specific Titer Thresholds Improve Stratification of Risk of Progression to Type 1 Diabetes in Children](http://dev-pacnwresearch.pantheonsite.io/publication/islet-autoantibody-type-specific-titer-thresholds-improve-stratification-of-risk-of-progression-to-type-1-diabetes-in-children/) - [Is staff consistency important to parents' satisfaction in a longitudinal study of children at risk for type 1 diabetes: the TEDDY study](http://dev-pacnwresearch.pantheonsite.io/publication/is-staff-consistency-important-to-parents-satisfaction-in-a-longitudinal-study-of-children-at-risk-for-type-1-diabetes-the-teddy-study/) - [Simulating Screening for Risk of Childhood Diabetes: The Collaborative Open Outcomes tooL (COOL)](http://dev-pacnwresearch.pantheonsite.io/publication/simulating-screening-for-risk-of-childhood-diabetes-the-collaborative-open-outcomes-tool-cool/) - [Author Correction: A combined risk score enhances prediction of type 1 diabetes among susceptible children](http://dev-pacnwresearch.pantheonsite.io/publication/author-correction-a-combined-risk-score-enhances-prediction-of-type-1-diabetes-among-susceptible-children/) - [Heterogeneity of DKA Incidence and Age-Specific Clinical Characteristics in Children Diagnosed With Type 1 Diabetes in the TEDDY Study](http://dev-pacnwresearch.pantheonsite.io/publication/heterogeneity-of-dka-incidence-and-age-specific-clinical-characteristics-in-children-diagnosed-with-type-1-diabetes-in-the-teddy-study/) - [Telomere length is not a main factor for the development of islet autoimmunity and type 1 diabetes in the TEDDY study](http://dev-pacnwresearch.pantheonsite.io/publication/telomere-length-is-not-a-main-factor-for-the-development-of-islet-autoimmunity-and-type-1-diabetes-in-the-teddy-study/) - [Progression of type 1 diabetes from latency to symptomatic disease is predicted by distinct autoimmune trajectories](http://dev-pacnwresearch.pantheonsite.io/publication/progression-of-type-1-diabetes-from-latency-to-symptomatic-disease-is-predicted-by-distinct-autoimmune-trajectories/) - [Utility of Diabetes Type-Specific Genetic Risk Scores for the Classification of Diabetes Type Among Multiethnic Youth](http://dev-pacnwresearch.pantheonsite.io/publication/utility-of-diabetes-type-specific-genetic-risk-scores-for-the-classification-of-diabetes-type-among-multiethnic-youth/) - [Temporal changes in gastrointestinal fungi and the risk of autoimmunity during early childhood: the TEDDY study](http://dev-pacnwresearch.pantheonsite.io/publication/temporal-changes-in-gastrointestinal-fungi-and-the-risk-of-autoimmunity-during-early-childhood-the-teddy-study/) - [Type 1 diabetes in diverse ancestries and the use of genetic risk scores](http://dev-pacnwresearch.pantheonsite.io/publication/type-1-diabetes-in-diverse-ancestries-and-the-use-of-genetic-risk-scores/) - [Congenital beta cell defects are not associated with markers of islet autoimmunity, even in the context of high genetic risk for type 1 diabetes](http://dev-pacnwresearch.pantheonsite.io/publication/congenital-beta-cell-defects-are-not-associated-with-markers-of-islet-autoimmunity-even-in-the-context-of-high-genetic-risk-for-type-1-diabetes/) - [Sources of dietary gluten in the first 2 years of life and associations with celiac disease autoimmunity and celiac disease in Swedish genetically predisposed children: The Environmental Determinants of Diabetes in the Young (TEDDY) study](http://dev-pacnwresearch.pantheonsite.io/publication/sources-of-dietary-gluten-in-the-first-2-years-of-life-and-associations-with-celiac-disease-autoimmunity-and-celiac-disease-in-swedish-genetically-predisposed-children-the-environmental-determinants/) - [Predictors of the Initiation of Islet Autoimmunity and Progression to Multiple Autoantibodies and Clinical Diabetes: The TEDDY Study](http://dev-pacnwresearch.pantheonsite.io/publication/predictors-of-the-initiation-of-islet-autoimmunity-and-progression-to-multiple-autoantibodies-and-clinical-diabetes-the-teddy-study/) - [Rising Hemoglobin A1c in the Nondiabetic Range Predicts Progression of Type 1 Diabetes As Well As Oral Glucose Tolerance Tests](http://dev-pacnwresearch.pantheonsite.io/publication/rising-hemoglobin-a1c-in-the-nondiabetic-range-predicts-progression-of-type-1-diabetes-as-well-as-oral-glucose-tolerance-tests/) - [HbA1c as a time predictive biomarker for an additional islet autoantibody and type 1 diabetes in seroconverted TEDDY children](http://dev-pacnwresearch.pantheonsite.io/publication/hba1c-as-a-time-predictive-biomarker-for-an-additional-islet-autoantibody-and-type-1-diabetes-in-seroconverted-teddy-children/) - [Islet Autoantibody Levels Differentiate Progression Trajectories in Individuals With Presymptomatic Type 1 Diabetes](http://dev-pacnwresearch.pantheonsite.io/publication/islet-autoantibody-levels-differentiate-progression-trajectories-in-individuals-with-presymptomatic-type-1-diabetes/) - [Quantifying the utility of islet autoantibody levels in the prediction of type 1 diabetes in children](http://dev-pacnwresearch.pantheonsite.io/publication/quantifying-the-utility-of-islet-autoantibody-levels-in-the-prediction-of-type-1-diabetes-in-children/) - [Incidence of Pediatric Celiac Disease Varies by Region](http://dev-pacnwresearch.pantheonsite.io/publication/incidence-of-pediatric-celiac-disease-varies-by-region/) - [Islet autoantibody screening in at-risk adolescents to predict type 1 diabetes until young adulthood: a prospective cohort study](http://dev-pacnwresearch.pantheonsite.io/publication/islet-autoantibody-screening-in-at-risk-adolescents-to-predict-type-1-diabetes-until-young-adulthood-a-prospective-cohort-study/) - [Gluten-free diet adherence in children with screening-detected celiac disease using a prospective birth cohort study](http://dev-pacnwresearch.pantheonsite.io/publication/gluten-free-diet-adherence-in-children-with-screening-detected-celiac-disease-using-a-prospective-birth-cohort-study/) - [Refining the Definition of Stage 1 Type 1 Diabetes: An Ontology-Driven Analysis of the Heterogeneity of Multiple Islet Autoimmunity](http://dev-pacnwresearch.pantheonsite.io/publication/refining-the-definition-of-stage-1-type-1-diabetes-an-ontology-driven-analysis-of-the-heterogeneity-of-multiple-islet-autoimmunity/) - [Interaction Between Dietary Iron Intake and Genetically Determined Iron Overload: Risk of Islet Autoimmunity and Progression to Type 1 Diabetes in the TEDDY Study](http://dev-pacnwresearch.pantheonsite.io/publication/interaction-between-dietary-iron-intake-and-genetically-determined-iron-overload-risk-of-islet-autoimmunity-and-progression-to-type-1-diabetes-in-the-teddy-study/) - [Physical Activity and the Development of Islet Autoimmunity and Type 1 Diabetes in 5- to 15-Year-Old Children Followed in the TEDDY Study](http://dev-pacnwresearch.pantheonsite.io/publication/physical-activity-and-the-development-of-islet-autoimmunity-and-type-1-diabetes-in-5-to-15-year-old-children-followed-in-the-teddy-study/) - [Possible heterogeneity of initial pancreatic islet beta-cell autoimmunity heralding type 1 diabetes](http://dev-pacnwresearch.pantheonsite.io/publication/possible-heterogeneity-of-initial-pancreatic-islet-beta-cell-autoimmunity-heralding-type-1-diabetes/) - [Plasma protein biomarkers predict the development of persistent autoantibodies and type 1 diabetes 6 months prior to the onset of autoimmunity ](http://dev-pacnwresearch.pantheonsite.io/publication/plasma-protein-biomarkers-predict-the-development-of-persistent-autoantibodies-and-type-1-diabetes-6-months-prior-to-the-onset-of-autoimmunity/) - [Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome](http://dev-pacnwresearch.pantheonsite.io/publication/heterozygous-truncating-variants-in-pomp-escape-nonsense-mediated-decay-and-cause-a-unique-immune-dysregulatory-syndrome/) - [Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome](http://dev-pacnwresearch.pantheonsite.io/publication/heterozygous-truncating-variants-in-pomp-escape-nonsense-mediated-decay-and-cause-a-unique-immune-dysregulatory-syndrome-2/) - [Alu‐Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias](http://dev-pacnwresearch.pantheonsite.io/publication/alu‐alu-mediated-intragenic-duplications-in-ift81-and-matn3-are-associated-with-skeletal-dysplasias/) - [Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1](http://dev-pacnwresearch.pantheonsite.io/publication/genetic-and-molecular-mechanism-for-distinct-clinical-phenotypes-conveyed-by-allelic-truncating-mutations-implicated-in-fbn1/) - [Sporobolomyces agrorum sp. nov. and Sporobolomyces sucorum sp. nov., two novel basidiomycetous yeast species isolated from grape and apple must in Italy](http://dev-pacnwresearch.pantheonsite.io/publication/sporobolomyces-agrorum-sp-nov-and-sporobolomyces-sucorum-sp-nov-two-novel-basidiomycetous-yeast-species-isolated-from-grape-and-apple-must-in-italy/) - [Preparation of small RNA NGS libraries from biofluids](http://dev-pacnwresearch.pantheonsite.io/publication/preparation-of-small-rna-ngs-libraries-from-biofluids/) - [ExRNA Atlas analysis provides an exRNA census and reveals six types of vesicular and non-vesicular exRNA carrier profiles detectable across human body fluids](http://dev-pacnwresearch.pantheonsite.io/publication/exrna-atlas-analysis-provides-an-exrna-census-and-reveals-six-types-of-vesicular-and-non-vesicular-exrna-carrier-profiles-detectable-across-human-body-fluids/) - [Genome-wide profiling of urinary extracellular vesicle microRNAs associated with diabetic nephropathy in type 1 diabetes](http://dev-pacnwresearch.pantheonsite.io/publication/genome-wide-profiling-of-urinary-extracellular-vesicle-micrornas-associated-with-diabetic-nephropathy-in-type-1-diabetes/) - [Modified TruSeq Small RNA Library Prep using Randomized 4N Adapters: In house 4N Protocol D](http://dev-pacnwresearch.pantheonsite.io/publication/modified-truseq-small-rna-library-prep-using-randomized-4n-adapters-in-house-4n-protocol-d-2/) - [Library Preparation for small RNA sequencing using 4N adapters: In house 4N Protocol B](http://dev-pacnwresearch.pantheonsite.io/publication/library-preparation-for-small-rna-sequencing-using-4n-adapters-in-house-4n-protocol-b/) - [Library Preparation for small RNA sequencing using 4N adapters: In house 4N Protocol A](http://dev-pacnwresearch.pantheonsite.io/publication/library-preparation-for-small-rna-sequencing-using-4n-adapters-in-house-4n-protocol-a/) - [Role of microRNAs in renal parenchymal diseases—a new dimension](http://dev-pacnwresearch.pantheonsite.io/publication/role-of-micrornas-in-renal-parenchymal-diseases-a-new-dimension/) - [METHODS, COMPOSITIONS, AND DEVICES UTILIZING MicroRNA TO DETERMINE PHYSIOLOGICAL CONDITIONS](http://dev-pacnwresearch.pantheonsite.io/publication/methods-compositions-and-devices-utilizing-microrna-to-determine-physiological-conditions/) - [The RNA Complement of Outer Membrane Vesicles From Salmonella enterica Serovar Typhimurium Under Distinct Culture Conditions](http://dev-pacnwresearch.pantheonsite.io/publication/the-rna-complement-of-outer-membrane-vesicles-from-salmonella-enterica-serovar-typhimurium-under-distinct-culture-conditions/) - [Comprehensive multi-center assessment of small RNA-seq methods for quantitative miRNA profiling](http://dev-pacnwresearch.pantheonsite.io/publication/comprehensive-multi-center-assessment-of-small-rna-seq-methods-for-quantitative-mirna-profiling/) - [Small RNA profiling of low biomass samples: identification and removal of contaminants](http://dev-pacnwresearch.pantheonsite.io/publication/small-rna-profiling-of-low-biomass-samples-identification-and-removal-of-contaminants/) - [Symmetries among multivariate information measures explored using Möbius operators](http://dev-pacnwresearch.pantheonsite.io/publication/symmetries-among-multivariate-information-measures-explored-using-mobius-operators/) - [Multivariate Analysis of Data Sets with Missing Values: An Information Theory-Based Reliability Function](http://dev-pacnwresearch.pantheonsite.io/publication/multivariate-analysis-of-data-sets-with-missing-values-an-information-theory-based-reliability-function/) - [Phospho-sRNA-seq reveals extracellular mRNA/lncRNA fragments as potential biomarkers in human plasma](http://dev-pacnwresearch.pantheonsite.io/publication/phospho-srna-seq-reveals-extracellular-mrna-lncrna-fragments-as-potential-biomarkers-in-human-plasma/) - [exRNA atlas analysis reveals distinct extracellular RNA cargo types and their carriers present across human biofluids](http://dev-pacnwresearch.pantheonsite.io/publication/exrna-atlas-analysis-reveals-distinct-extracellular-rna-cargo-types-and-their-carriers-present-across-human-biofluids/) - [Extracellular vesicle encapsulated microRNAs in patients with type 2 diabetes are affected by metformin treatment](http://dev-pacnwresearch.pantheonsite.io/publication/extracellular-vesicle-encapsulated-micrornas-in-patients-with-type-2-diabetes-are-affected-by-metformin-treatment/) - [Phospho‐RNA‐seq: a modified small RNA‐seq method that reveals circulating mRNA and lncRNA fragments as potential biomarkers in human plasma](http://dev-pacnwresearch.pantheonsite.io/publication/phospho‐rna‐seq-a-modified-small-rna‐seq-method-that-reveals-circulating-mrna-and-lncrna-fragments-as-potential-biomarkers-in-human-plasma/) - [Computational Inference Software for Tetrad Assembly from Randomly Arrayed Yeast Colonies](http://dev-pacnwresearch.pantheonsite.io/publication/computational-inference-software-for-tetrad-assembly-from-randomly-arrayed-yeast-colonies-2/) - [The Group Theoretic Roots of Information: permutations, symmetry, and entropy](http://dev-pacnwresearch.pantheonsite.io/publication/the-group-theoretic-roots-of-information-permutations-symmetry-and-entropy/) - [Plasma Small Extracellular RNA as a Biomarker of Autoimmune Flairs and Beta Cell Death in Type 1 Diabetes Using Frequent Prospective Peri-Onset Sampling](http://dev-pacnwresearch.pantheonsite.io/publication/plasma-small-extracellular-rna-as-a-biomarker-of-autoimmune-flairs-and-beta-cell-death-in-type-1-diabetes-using-frequent-prospective-peri-onset-sampling/) - [Extracting reproducible time-resolved resting state networks using dynamic mode decomposition](http://dev-pacnwresearch.pantheonsite.io/publication/extracting-reproducible-time-resolved-resting-state-networks-using-dynamic-mode-decomposition/) - [Comparison of reproducibility, accuracy, sensitivity, and specificity of miRNA quantification platforms](http://dev-pacnwresearch.pantheonsite.io/publication/comparison-of-reproducibility-accuracy-sensitivity-and-specificity-of-mirna-quantification-platforms/) - [Abstract IA23: Phospho-RNA-seq: A liquid biopsy approach for cell-free mRNA/lncRNA profiling](http://dev-pacnwresearch.pantheonsite.io/publication/abstract-ia23-phospho-rna-seq-a-liquid-biopsy-approach-for-cell-free-mrna-lncrna-profiling/) - [Allele frequency mismatches and apparent mismappings in uk biobank snp data](http://dev-pacnwresearch.pantheonsite.io/publication/allele-frequency-mismatches-and-apparent-mismappings-in-uk-biobank-snp-data/) - [Partial information decomposition and the information delta: a geometric unification disentangling non-pairwise information](http://dev-pacnwresearch.pantheonsite.io/publication/partial-information-decomposition-and-the-information-delta-a-geometric-unification-disentangling-non-pairwise-information/) - [Complex genetic dependencies among growth and neurological phenotypes in healthy children: Towards deciphering developmental mechanisms](http://dev-pacnwresearch.pantheonsite.io/publication/complex-genetic-dependencies-among-growth-and-neurological-phenotypes-in-healthy-children-towards-deciphering-developmental-mechanisms/) - [Children’s erythrocyte fatty acids are associated with the risk of islet autoimmunity](http://dev-pacnwresearch.pantheonsite.io/publication/childrens-erythrocyte-fatty-acids-are-associated-with-the-risk-of-islet-autoimmunity/) - [Cerebrospinal Fluid MicroRNA Changes in Cognitively Normal Veterans With a History of Deployment-Associated Mild Traumatic Brain Injury](http://dev-pacnwresearch.pantheonsite.io/publication/cerebrospinal-fluid-microrna-changes-in-cognitively-normal-veterans-with-a-history-of-deployment-associated-mild-traumatic-brain-injury/) - [Optimized permutation testing for information theoretic measures of multi-gene interactions](http://dev-pacnwresearch.pantheonsite.io/publication/optimized-permutation-testing-for-information-theoretic-measures-of-multi-gene-interactions/) - [Library Preparation for small RNA sequencing using 4N adapters: In house 4N Protocol C](http://dev-pacnwresearch.pantheonsite.io/publication/library-preparation-for-small-rna-sequencing-using-4n-adapters-in-house-4n-protocol-c/) - [Phase 2 of extracellular RNA communication consortium charts next-generation approaches for extracellular RNA research](http://dev-pacnwresearch.pantheonsite.io/publication/phase-2-of-extracellular-rna-communication-consortium-charts-next-generation-approaches-for-extracellular-rna-research/) - [Modified TruSeq Small RNA Library Prep using Randomized 4N Adapters: In house 4N Protocol D](http://dev-pacnwresearch.pantheonsite.io/publication/modified-truseq-small-rna-library-prep-using-randomized-4n-adapters-in-house-4n-protocol-d/) - [Natural Variation in SER1 and ENA6 Underlie Condition-Specific Growth Defects in Saccharomyces cerevisiae](http://dev-pacnwresearch.pantheonsite.io/publication/natural-variation-in-ser1-and-ena6-underlie-condition-specific-growth-defects-in-saccharomyces-cerevisiae/) - [Rapid Phenotypic and Genotypic Diversification After Exposure to the Oral Host Niche in Candida albicans](http://dev-pacnwresearch.pantheonsite.io/publication/rapid-phenotypic-and-genotypic-diversification-after-exposure-to-the-oral-host-niche-in-candida-albicans/) - [Selection of Candida albicans trisomy during oropharyngeal infection results in a commensal-like phenotype](http://dev-pacnwresearch.pantheonsite.io/publication/selection-of-candida-albicans-trisomy-during-oropharyngeal-infection-results-in-a-commensal-like-phenotype/) - [Computational Inference Software for Tetrad Assembly from Randomly Arrayed Yeast Colonies](http://dev-pacnwresearch.pantheonsite.io/publication/computational-inference-software-for-tetrad-assembly-from-randomly-arrayed-yeast-colonies/) - [Data-driven multiscale modeling reveals the role of metabolic coupling for the spatio-temporal growth dynamics of yeast colonies](http://dev-pacnwresearch.pantheonsite.io/publication/data-driven-multiscale-modeling-reveals-the-role-of-metabolic-coupling-for-the-spatio-temporal-growth-dynamics-of-yeast-colonies/) - [A yeast‐based complementation assay elucidates the functional impact of 200 missense variants in human PSAT1](http://dev-pacnwresearch.pantheonsite.io/publication/a-yeast‐based-complementation-assay-elucidates-the-functional-impact-of-200-missense-variants-in-human-psat1/) - [Exploiting the autozygome to support previously published mendelian gene-disease associations: An update](http://dev-pacnwresearch.pantheonsite.io/publication/exploiting-the-autozygome-to-support-previously-published-mendelian-gene-disease-associations-an-update/) - [Quantifying yeast colony morphologies with feature engineering from time-lapse photography](http://dev-pacnwresearch.pantheonsite.io/publication/quantifying-yeast-colony-morphologies-with-feature-engineering-from-time-lapse-photography/) - [A method for quantifying sporulation efficiency and isolating meiotic progeny in non‐GMO strains of Saccharomyces cerevisiae](http://dev-pacnwresearch.pantheonsite.io/publication/a-method-for-quantifying-sporulation-efficiency-and-isolating-meiotic-progeny-in-non‐gmo-strains-of-saccharomyces-cerevisiae/) - [Cross‐species systems analysis of evolutionary toolkits of neurogenomic response to social challenge](http://dev-pacnwresearch.pantheonsite.io/publication/cross‐species-systems-analysis-of-evolutionary-toolkits-of-neurogenomic-response-to-social-challenge/) - [Honey bee neurogenomic responses to affiliative and agonistic social interactions](http://dev-pacnwresearch.pantheonsite.io/publication/honey-bee-neurogenomic-responses-to-affiliative-and-agonistic-social-interactions/) - [An extended regulatory landscape drives Tbx18 activity in a variety of prostate-associated cell lineages](http://dev-pacnwresearch.pantheonsite.io/publication/an-extended-regulatory-landscape-drives-tbx18-activity-in-a-variety-of-prostate-associated-cell-lineages/) - [Allele-specific enhancer interaction at the Peg3 imprinted domain](http://dev-pacnwresearch.pantheonsite.io/publication/allele-specific-enhancer-interaction-at-the-peg3-imprinted-domain/) - [Site-specific phosphorylation of histone H1. 4 is associated with transcription activation](http://dev-pacnwresearch.pantheonsite.io/publication/site-specific-phosphorylation-of-histone-h1-4-is-associated-with-transcription-activation/) - [Horizontal transfer of retrotransposons between bivalves and other aquatic species of multiple phyla](http://dev-pacnwresearch.pantheonsite.io/publication/horizontal-transfer-of-retrotransposons-between-bivalves-and-other-aquatic-species-of-multiple-phyla/) - [From the raw bar to the bench: Bivalves as models for human health](http://dev-pacnwresearch.pantheonsite.io/publication/from-the-raw-bar-to-the-bench-bivalves-as-models-for-human-health/) - 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[BBC Inside Science](http://dev-pacnwresearch.pantheonsite.io/media_coverage/bbc-inside-science/) - [Remarkable history of coffee and chocolate yeast](http://dev-pacnwresearch.pantheonsite.io/media_coverage/remarkable-history-of-coffee-and-chocolate-yeast/) - [A new brew](http://dev-pacnwresearch.pantheonsite.io/media_coverage/a-new-brew/) - [Cafe Juanita pastry chef Junko Mine blends art, science and traditions into creative, ingenious treats](http://dev-pacnwresearch.pantheonsite.io/media_coverage/cafe-juanita-pastry-chef-junko-mine-blends-art-science-and-traditions-into-creative-ingenious-treats/) - [Super Awesome Science Show Podcast: Coffee Beans and Genes](http://dev-pacnwresearch.pantheonsite.io/media_coverage/super-awesome-science-show-podcast-coffee-beans-and-genes/) - [Human link in spread of infectious cancer in mussels](http://dev-pacnwresearch.pantheonsite.io/media_coverage/human-link-in-spread-of-infectious-cancer-in-mussels/) - [Rare cancers spreading among sea creatures have scientists perplexed](http://dev-pacnwresearch.pantheonsite.io/media_coverage/rare-cancers-spreading-among-sea-creatures-have-scientists-perplexed/) - 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