PNRI
As 2024 comes to a close, we celebrate a transformative year here at PNRI filled with breakthroughs in genetic research, innovative collaborations, and exciting new initiatives. These achievements represent significant strides in advancing our understanding of genetics and its potential to improve human health.
Welcoming New Leadership
The year began with Jack Faris, PhD, joining PNRI as Chief Executive Officer. With his extensive background in biomedical research leadership and science communication, Dr. Faris has been instrumental in fostering a culture of innovation and collaboration across the institute. Under his guidance, PNRI is driving the most prolific and collaborative research in our nearly 70-year history, with our work reaching farther than ever before.
“2024 was an amazing year at PNRI because new leadership brought a renewed sense of optimism. Our scientists are all engaged in the pursuit of science that will make a meaningful difference in the lives of countless individuals and families. There is nothing more important or gratifying than to see the great momentum that exists right now at PNRI.”
Gary Kocher
Chair, PNRI Board of Trustees
Advancing Rare Disease Research
Rare disease research continued as a cornerstone of PNRI’s work in 2024, with significant advancements from the Dudley Lab and Carvalho Lab.
The Dudley Lab made remarkable strides in diagnosing rare urea cycle disorders. The lab developed a groundbreaking genetic screening tool for OTC deficiency—the most common urea cycle disorder—which allows clinicians to rapidly diagnose and assess the severity of the disease. The lab also made important discoveries about Argininosuccinate lyase deficiency (ASL deficiency), showing how specific genetic changes disrupt the function of a key enzyme and how certain combinations of these changes can unexpectedly restore its activity. These advancements are improving the accuracy and speed of diagnosis and bringing new hope to patients and families affected by these life-threatening disorders.
In 2024, Dr. Aimée Dudley, PNRI Interim Chief Scientific Officer and Senior Investigator, was appointed Co-Editor-in-Chief of PLOS Genetics, a leading open-access journal advancing genetic research. This role highlights Dr. Dudley’s commitment to open science, which is crucial for rare disease research.
“Open science ensures that every researcher, regardless of resources or geography, has access to the data and discoveries they need to advance their work. For rare diseases, this is especially critical—it’s the collective efforts of a global community that drive the breakthroughs patients and families desperately need.”
Aimée Dudley, PhD
PNRI Interim Chief Scientific Officer and Senior Investigator
This year, the Carvalho Lab made extraordinary progress in uncovering the genetic causes of rare diseases, focusing on complex genomic rearrangements–particularly those involving developmental delays, neurological disorders, and bone malformations–often missed by standard testing methods. By developing advanced techniques to analyze these intricate DNA changes, the lab provided answers to families with previously undiagnosed conditions, paving the way for improved diagnostics and treatments.
“Every discovery we make about these complex DNA rearrangements not only solves a puzzle for a family but also adds to our understanding of how the genome works, which can ultimately benefit many others.”
Cláudia Carvalho, PhD
PNRI Assistant Investigator
PNRI’s groundbreaking research in rare diseases also gained international recognition at global conferences in 2024. Dr. Aimée Dudley presented her lab’s discoveries on urea cycle disorders, including insights into ASL deficiency and the development of the genetic screening tool for OTC deficiency. Dr. Cláudia Carvalho shared her work on complex genomic rearrangements, further showcasing PNRI’s leadership in uncovering the genetic mechanisms behind rare conditions and fostering global collaboration to advance research and clinical care.
Bringing Science to Life Through a New Podcast
In 2024, PNRI launched PNRI Science: Mystery and Discovery, a podcast hosted by Dr. Jack Faris and introduced by his daughter, actor/producer Anna Faris. This engaging series invites listeners to explore the passion, people, and breakthroughs driving genetic research. Each episode features conversations with PNRI scientists as they discuss their work, the challenges of uncovering genetic mysteries, and the discoveries that advance human health.
With its conversational tone and focus on accessibility, the podcast makes cutting-edge science relatable and inspiring for a broad audience. Whether you’re a seasoned researcher or simply curious about the genetic stories shaping our world, the podcast showcases PNRI’s dedication to making science available to all.
Breakthroughs in Cancer Research
Dr. Michael Metzger and his lab’s groundbreaking research into contagious cancer in clams continued to make waves in 2024, offering unprecedented insights into cancer biology. They uncovered how these cancers spread through the transfer of living cancer cells between clams, a process previously thought impossible in animals. Dr. Metzger’s work was also featured at the WA Tech Alliance’s Discovery Series, where he discussed its broader implications for science, health, and the potential development of innovative therapies.
“One of the amazing things about studying these cancers in clams is that they allow us to explore fundamental questions about cancer biology. If we can understand how these cancer cells evade immune systems across species, it could open up entirely new avenues for treating or even preventing cancer in humans.”
Michael Metzger, PhD
PNRI Assistant Investigator
Celebrating 20 Years of the TEDDY Study
This year also marked the 20th anniversary of the TEDDY Study (The Environmental Determinants of Diabetes in the Young), an international effort with PNRI serving as the only TEDDY research center on the West Coast. Over the past two decades, TEDDY has followed thousands of children at high genetic risk for type 1 diabetes, collecting extensive data on diet, infections, stress, and other environmental factors. Our final study participant will come through our clinic in February 2025. These efforts have provided groundbreaking insights into how genetics and environment interact to trigger type 1 diabetes, paving the way for prevention strategies and a deeper understanding of autoimmune diseases.
“TEDDY is more than a study—it’s a commitment to understanding a complex disease that affects millions. By gathering detailed data over the past two decades, we’ve uncovered patterns and insights that weren’t visible before, and that’s what makes this work so meaningful.”
Michael Killian
PNRI Director of Clinical Services
Exploring the Dark Side of the Genome
In 2024, Dr. Rick McLaughlin and his lab at PNRI delved deeper into the enigmatic “dark side” of the genome—the 98% of human DNA previously labeled as “junk.” Focusing on viral genes embedded within our DNA, the McLaughlin Lab uncovered how these elements influence key biological processes and may contribute to diseases like lupus and cancer. By investigating the role of these ancient viral remnants in pregnancy outcomes and fetal development, Dr. McLaughlin’s work is reshaping our understanding of how the hidden portions of our genome impact health and disease, paving the way for innovative approaches to diagnosis and treatment.
“The so-called ‘junk’ DNA is actually filled with ancient viral remnants that can profoundly affect our biology. By studying these elements, we’re uncovering hidden mechanisms that may play a role in disease—and that understanding opens up new possibilities for diagnosis and treatment.”
Rick McLaughlin, PhD
PNRI Assistant Investigator
Highlighting PNRI’s Year of Groundbreaking Publications
PNRI scientists published an impressive 24 studies and articles in 2024, advancing our understanding of genetics and disease across a wide range of topics. These publications, available on our publications page, reflect the depth and impact of PNRI’s research efforts over the past year.
Hosting Events to Drive Collaboration and Advocacy
In 2024, PNRI hosted a series of events to foster collaboration, advocacy, and public engagement in genetics research.
In February, PNRI’s Science Matters seminar in honor of Rare Disease Day featured two influential voices in the rare disease community: Jill Hawkins, Founder and President of the FAM177A1 Research Fund, who shared her family’s journey from undiagnosed children to building a scientific network, and Dr. Jennifer Posey, Physician Scientist at Baylor College of Medicine, who introduced the BCM-GREGoR program and its recent discoveries in accelerating molecular diagnoses for rare disease families.
In May, PNRI hosted its inaugural Rare Disease Hackathon, bringing together researchers, clinicians, and data scientists from around the globe to tackle unsolved challenges in rare disease genetics. This innovative event demonstrated the power of cross-disciplinary collaboration and set the stage for future problem-solving initiatives at PNRI.
PNRI also welcomed the community into our labs for behind-the-scenes lab tours, offering a unique opportunity for attendees to engage directly with our scientists, explore state-of-the-art technology, and learn about the groundbreaking work being conducted at PNRI.
As we move into 2025, PNRI is preparing for Rare Genetic Disease Research in Seattle and Beyond, a symposium on February 28, 2025. The purpose of the event is to introduce and unite Seattle-area research and national and international collaborations in rare disease research, share resources, discuss diagnosis to therapeutics—and ultimately, to connect technologists, physicians, and patient advocates for collaboration and networking. We will have a series of scientific talks and panels followed by an evening reception and poster session. Learn more about this event here.
Training the Next Generation of Scientists
The Summer Undergraduate Research Internship (SURI) program reached new milestones in 2024, hosting its largest-ever cohort of ten students. These bright young scientists spent ten weeks immersed in PNRI’s research environment, working alongside experienced scientists on cutting-edge projects. From studying genetic mechanisms to assisting in data analysis, SURI interns gained valuable hands-on experience and mentorship. The program also included professional development workshops and opportunities for students to present their findings, equipping them with the skills to succeed in scientific careers. SURI reflects PNRI’s commitment to fostering the next generation of scientific leaders and inspiring future innovators in genetic research.
Looking Ahead
PNRI’s growth this year extended to its leadership, with six new trustees joining the board. Their diverse expertise in science, business, and advocacy will help guide the institute as it continues to push the boundaries of genetic research.
“In 2025, we will be approaching the 70th anniversary of our founding by Dr. William Hutchinson. The prospects for his vision—employing rigorous science and innovation to improve human health—are brighter than ever.”
Jack Faris, PhD
PNRI Chief Executive Officer