Rare Disease Day 2025 Panel & Sessions

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

Carolina Sommer

Founder & CEO, Born a Hero, and Co-founder, NW Rare Disease Coalition

Erin Tansey

Patient & Family Experience Specialist, Seattle Children’s

Maddie Gillentine, PhD

Research Director, HNRNP Family Foundation

Nora Xu

Director, Foundation for Angelman Syndrome Therapeutics

Precision Medicine for Vascular Anomalies: The Tissue’s the Issue

Moderator: James T. Bennett, MD, PhD

Associate Professor, Center for Developmental Biology and Regenerative Medicine, Seattle Children’s Research Institute, Dept. of Pediatrics, Division Genetic Medicine, Adjunct in Dept. of Lab Medicine and Pathology, University of Washington

Targeted Therapies for Genetic Conditions

Margaret L.P. Adam, MD

Attending Physician, Seattle Children’s Hospital, Editor-in-Chief, GeneReviews, and Professor, Dept. of Pediatrics, Division of Genetic Medicine, University of Washington School of Medicine

Building an International Collaboration for the Identification of and Care for Patients with Rare Genetic Conditions in Vietnam

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

Implementation of First-Line Rapid Genome Sequencing for Pediatric Inpatients

Alexandra C. Keefe, MD, PhD

Clinical Genetics, Seattle Children’s Hospital

One Among Many: Lessons Learned From Joubert Syndrome

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

University of Washington Center for Rare Disease Research: Gene Discovery and Methods to Discover the Causes of Rare Diseases

Moderator: Jessica X. Chong, PhD

Associate Professor, University of Washington

Undiagnosed Diseases Network: Finding Answers for Families with Rare Diseases

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

Pros and Cons of Applying Large Data Sets to Patients Diagnosed With Rare and Ultra-Rare Genetic Disorders

Ian A. Glass, MBChB, MD, FACMG

Medical Genetics, Seattle Children’s Hospital, Professor of Pediatrics and Medicine, University of Washington School of Medicine

Leveraging Databases for Clinical Variant Classification

Cate Paschal, PhD, FACMG

Director, Cytogenetics and Molecular Diagnostics, Seattle Children’s Hospital

Yeast Functional Assays for Genetic Variant Interpretation

Moderator: Aimée Dudley, PhD

Senior Investigator & Interim Chief Scientific Officer, Pacific Northwest Research Institute

Understanding Non-Coding Contributions to Retinal Disease With Molecular and Machine Modeling

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 Dept. of Pediatrics and Division of Genetic Medicine

Zebrafish Models of Congenital Muscle Disorders: Genetics, Etiology, and Drug Screening

Lisa Maves, PhD

Principal Investigator, Seattle Children’s Research Institute, and Associate Professor, Pediatrics, University of Washington School of Medicine

Using 3D-Engineered Cardiac and Skeletal Muscle Tissues for DMD Disease Modeling and Drug Discovery

David Mack, PhD

Associate Professor, Dept. of Rehabilitation Medicine and Bioengineering and the Dept. of Neurobiology and Biophysics, and Investigator, Institute for Stem Cell and Regenerative Medicine, University of Washington

Long-Read Sequence Assembly and Disease Susceptibility

Moderator: Evan Eichler, PhD

HHMI Investigator and Professor, Department of Genome Sciences, University of Washington

Uncovering Hidden Pathogenic Structural Variants in Rare Diseases

Cláudia M.B. Carvalho, PhD

Assistant Investigator, Pacific Northwest Research Institute

The Promise of Long-Read Genome Sequencing in the Clinical and Research Setting

Danny E. Miller, MD, PhD, FACMG

Principal Investigator, Seattle Children’s Research Institute, and Associate Professor, Pediatrics, University of Washington School of Medicine

Synchronous Long-Read Multi-Ome Sequencing for Resolving Rare Diseases

Andrew B. Stergachis, MD, PhD

Associate Professor, Medical Genetics and Genome Sciences, University of Washington

Deciphering the Genetic Configurations of Rare Diseases Through the Multiomic Approaches

Chia-Lin Wei, PhD

Professor, Director, Northwest Genomics Center (NWGC), Department of Genome Sciences, University of Washington

Urea Cycle Disorders: From Nitrogen Scavengers to Gene Therapy – A Journey to Break the Cycle

Moderator: 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 Children’s Research Hospital

Lessons Learned From Clinical Trials in Congenital Disorders of Glycosylation

Christina Lam, MD

Medical Director, Biochemical Genetics, Seattle Children’s Hospital, and Associate Professor, Dept. of Pediatrics, University of Washington School of Medicine

Genomic Studies in MECP2 Duplication Syndrome Provides Guidance for Individualized Treatment

Davut Pehlivan, MD

Assistant Professor, Baylor College of Medicine

Vittorio Gallo, PhD

Senior Vice President and Chief Scientific Officer, Seattle Children’s Research Institute

Jack Faris, PhD

Chief Executive Officer, Pacific Northwest Research Institute