The Childhood Diseases Theme at BC Children’s Hospital presents:

The NIH Undiagnosed Diseases Program: Expansion to National and International Networks

Speaker: Dr. William A. Gahl, MD, PhD
Clinical Director, National Human Genome Research Institute
Head, Undiagnosed Diseases Program
Head, Human Biochemical Genetics Section

 By the end of this seminar participants will be able to:
  • Recognize how to refer patients to the NIH Undiagnosed Diseases Network and how the Network operates
  • Appreciate the importance of family member exomes in NGS sequencing analysis
  • Understand the genetic bases of 3 extremely rare diseases

Schedule -

The seminar is scheduled for Monday, October 17, 12:00 - 1:00 p.m. at the Chan Centre for Family Health Education (Map), BC Children's Hospital.

Participate -

Everyone is welcome to attend but registration is strongly encouraged - click here to RSVP. Access is available remotely via Telehealth videoconferencing, please register at least one week prior to the event. 

Discovery Talks is accredited as a self-approved group learning activity (Section 1) as defined by the Maintenance of Certification program of the Royal College of Physicians and Surgeons of Canada. CME credits are available for all participants.

About the Speaker -

Dr. William A. Gahl earned his B.S. in biology from the Massachusetts Institute of Technology in 1972 and his M.D. from the University of Wisconsin in 1976. He obtained a Ph.D. degree in oncology research from Wisconsin's McArdle Laboratories for Cancer Research in 1981 and served as pediatric resident and chief resident at the University of Wisconsin hospitals from 1976-80. In 1984, he completed clinical genetics and clinical biochemical genetics fellowships at the NIH's Interinstitute Medical Genetics Training Program, which he directed from 1989 to 1994. Dr. Gahl's research has focused on the natural history of rare metabolic disorders and the discovery of new genetic diseases. He elucidated the basic defects in cystinosis and Salla disease, i.e., deficiencies of the lysosomal membrane transporters that carry cystine and sialic acid, respectively, out of the lysosome.

Dr. Gahl also demonstrated effective therapy for nephropathic cystinosis, bringing cysteamine to new drug approval by the Food and Drug Administration. His group described the natural history of Lowe syndrome, alkaptonuria, autosomal recessive polycystic kidney disease, Chediak-Higashi disease, GNE myopathy, and Hermansky-Pudlak syndrome (HPS), a disorder of oculocutaneous albinism, bleeding, and pulmonary fibrosis. His lab discovered the genetic bases of gray platelet syndrome, Hartnup disease, arterial calcification due to deficiency of CD73, 3-methylglutaconic aciduria type III, 3 types of HPS, and neutropenia due to VPS45 deficiency. He has published more than 350 peer-reviewed papers and trained 36 biochemical geneticists. He established American Board of Medical Specialties certification for medical biochemical genetics. He served one the board of directors of the ABMG, as president of the Society for Inherited Metabolic Disorders, and was elected to the American Society for Clinical Investigation and the Association of American Physicians.

Dr. Gahl received the Dr. Nathan Davis Award for Outstanding Government Service from the AMA, the Service to America Medal in Science and the Environment, and numerous other awards.


Discovery Talks are the research community's international seminar series. Featuring influential research leaders from around the globe, the series promotes knowledge exchange, fosters international collaborations and showcases the latest innovations in research.

Video recordings of these lectures are available online: Video Library | Past Topics. These may be useful for classes, or of interest to those who are unable to attend events. 

For the latest information on program developments contact reseduc@cfri.ca to be added to the mailing list.