Rare Disease Day 2025

Rare Genetic Disease Research in Seattle and Beyond: Connections and Collaborations  

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. 

EVENT DETAILS: 

• Friday, February 28, 2025
• 9am – 5pm Scientific Symposium (lunch will be provided)
• 5 – 7 pm Poster Session and Reception 
• Seattle Children’s Research Institute: Building Cure, 1920 Terry Ave., Seattle, WA 

Please submit your poster details by January 31, 2025 through the registration form after the agenda on this webpage.

PRELIMINARY AGENDA:

8:45am
Coffee and pastries 

9am
Welcome by Cláudia M.B. Carvalho, PhD, Assistant Investigator, PNRI 

9:05am
Panel 1: Challenges in rare diseases and collaborations with clinicians and researchers: what is missing? (30 minutes featuring patient and family voices) 

• Moderator: Kimberly Aldinger, PhD, Principal Investigator, Norcliffe Center for Integrative Brain Research, Seattle Children’s Research Institute, and Assistant Professor, Department of Pediatrics, University of Washington
• Maddie Gillentine, PhD, Research Director, HNRNP Family Foundation
• Carolina Sommer, Founder & CEO, Born a Hero, and Co-founder, NW Rare Disease Coalition
• Sabrina Castillote, Parent & Advocate for Batten’s Disease CLN2, CEO for TheirHopeToLive.org, Caregiver for CDWA Care Network, Advocate for Pacific Northwest Rare Disease Coalition, and Board Member for Seattle Children’s Adult Autism
• Nora Xu, Director, Foundation for Angelman Syndrome Therapeutics

9:35am
Session 1: The Clinical Perspective (60 minutes featuring clinician voices) 

• Moderator: James T. Bennett, MD, PhD, Associate Professor, Center for Developmental Biology and Regenerative Medicine, Seattle Children’s Research Institute, Department of Pediatrics, Division Genetic Medicine, Adjunct in Department of Lab Medicine and Pathology, University of Washington
• Margaret L.P. Adam, MD, Attending Physician, Seattle Children’s Hospital, Editor-in-Chief, GeneReviews, and Professor, Department of Pediatrics, Division of Genetic Medicine, University of Washington School of Medicine
• Kathleen A. Leppig, MD, Acting Director, Division of Medical Genetics, Fred Hutch, and Clinical Professor, Division of Medical Genetics, University of Washington School of Medicine
• Tara L. Wenger, MD, PhD, Associate Medical Director, Inpatient Genetics Services at Seattle Children’s Hospital, and Professor, Department of Pediatrics, University of Washington School of Medicine
• Dan Doherty, MD, PhD, Professor, University of Washington Pediatrics, Interim Head, Division of Developmental Medicine, Director, Hindbrain Malformation Research Program, and Affiliate Member, Center for Integrative Brain Research

25-minute networking break 

11am
Session 2: Large scale studies and resources for rare disease research (60 minutes)

• Moderator: Jessica X. Chong, PhD, Associate Professor, University of Washington 
• Katrina M. Dipple, MD, PhD, Professor, University of Washington, Department of Pediatrics, Division of Genetic Medicine, and Medical Director, Genetic Medicine, Seattle Children’s Hospital
• Ian A. Glass, MBChB, MD, FACMG, Medical Genetics, Seattle Children’s Hospital, Professor of Pediatrics and Medicine, University of Washington School of Medicine
• Cate Paschal, PhD, FACMG, Director, Cytogenetics and Molecular Diagnostics, Seattle Children’s Hospital

12pm Networking Lunch (provided) 

1:15pm
Session 3: Models to Study DNA Variants in Rare Diseases (60 minutes)

• Moderator: Aimée Dudley, PhD, Senior Investigator & Interim Chief Scientific Officer, Pacific Northwest Research Institute
• Lisa Maves, PhD, Principal Investigator, Seattle Children’s Research Institute, and Associate Professor, Pediatrics, University of Washington School of Medicine
• Timothy Cherry, PhD, Principal Investigator, Seattle Children’s Research Institute’s Center for Developmental Biology and Regenerative Medicine, Associate Professor, University of Washington School of Medicine’s Department of Pediatrics and Division of Genetic Medicine
• David Mack, PhD, Associate Professor, Department of Rehabilitation Medicine and Bioengineering and the Department of Neurobiology and Biophysics, and Investigator, Institute for Stem Cell and Regenerative Medicine, University of Washington

2:15pm
Session 4: Implementing New Omics Technologies to Investigate Rare Diseases (60 minutes)

• Moderator: Evan Eichler, PhD, HHMI Investigator and Professor, Department of Genome Sciences, University of Washington
• Cláudia M.B. Carvalho, PhD, Assistant Investigator, Pacific Northwest Research Institute
• Danny E. Miller, MD, PhD, FACMG, Assistant Professor, Department of Pediatrics, Division of Genetic Medicine, Department of Laboratory Medicine and Pathology, University of Washington
• Andrew B. Stergachis, MD, PhD, Associate Professor, Medical Genetics and Genome Sciences, University of Washington
• Chia-Lin Wei, PhD, Professor, Director, Northwest Genomics Center (NWGC), Department of Genome Sciences, University of Washington

25-minute networking break 

3:40pm
Session 5: Clinical Trials and Therapeutic Development (60 minutes)

• Moderator: Ghayda Mirzaa, MD, Principal Investigator, Seattle Children’s Research Institute, and Associate Professor, Pediatrics and Medical Genetics, University of Washington School of Medicine
• Christina Lam, MD, Medical Director, Biochemical Genetics, Seattle Children’s Hospital, and Associate Professor, Department of Pediatrics, University of Washington School of Medicine
• Davut Pehlivan, MD, Assistant Professor, Baylor College of Medicine
• Andrea Gropman, MD, FAAP, FACMG, FANA, FCNS, Mark Tamer Endowed Chair in Pediatric Neurology, Director, Neurometabolic Translational Research Unit, Center for Experimental Therapeutics, St. Jude’s Children’s Research Hospital

4:40pm
Closing remarks: Eric Tham, MD, MS, Senior Vice President and Chief Research Operations Officer of Seattle Children’s Research Institute and Jack Faris, PhD, CEO of Pacific Northwest Research Institute (20 minutes) 

5 – 7pm
Reception and Poster Session (appetizers and wine to be served)