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The poor diagnosis of rare diseases: Overcoming deficits in information, awareness, and understanding

This webinar is brought to you by the Science/AAAS Custom Publishing Office

The poor diagnosis of rare diseases: Overcoming deficits in information, awareness, and understanding

Recorded 15 April 2021


Patients with rare diseases must often wait many years for a diagnosis—a quarter of patients wait over 4 years to be diagnosed, while 50% of patients must live with no accurate diagnosis. Why is this, and can it be improved? In this installment of our Rare Diseases Series, we will discuss the broad challenges faced by the rare disease community across the world. A significant part of the problem is the lack of awareness among the medical and scientific community, but there are also obstacles put up by medical insurance companies and a broad failure in the public domain to appreciate the hurdles faced by patients with rare diseases. Being without a diagnosis can impact a patient’s physical, mental, and emotional well-being, while receiving an accurate diagnosis can allow the patient and their family to move forward with a focus on managing future challenges.

This webinar will last for approximately 60 minutes.

Speaker bios

Kym Boycott, M.D., Ph.D.

University of Ottawa
Ottawa, Canada

Dr. Boycott is a professor of pediatrics at the University of Ottawa in Canada, where she is a clinical geneticist at the Children’s Hospital of Eastern Ontario (CHEO), chair of the Department of Genetics, and a senior scientist at the CHEO Research Institute. She is a Tier 1 Canada Research Chair in Rare Disease Precision Health, whose research program bridges clinical genomics to basic research, and is focused on understanding the molecular pathogenesis of rare diseases to improve patient care and family well-being. She leads the national Care4Rare Canada Consortium, integrating genomic and other 'omics technologies to improve our understanding of rare disease, with a particular focus on solving the unsolved and most difficult rare diseases. To leverage these discoveries, she coleads the Canadian Rare Diseases: Models & Mechanisms Network, established to catalyze connections between newly discovered rare-disease genes and basic scientists who can rapidly study them in model systems. Globally, she moves the rare-disease agenda forward as part of the Global Commission to End the Diagnostic Odyssey for Children.

William A. Gahl, M.D., Ph.D.

National Institutes of Health
Bethesda, MD

Dr. Gahl earned his B.S. in biology from the Massachusetts Institute of Technology in 1972 and his M.D. and Ph.D. from the University of Wisconsin, where he was pediatric resident and chief resident from 1976–1980. In 1984, he completed clinical genetics and clinical biochemical genetics fellowships at the U.S. National Institutes of Health’s Medical Genetics Training Program, which he directed from 1989–1994. Through his work, he elucidated the basic defects in cystinosis and Salla disease and helped bring cysteamine to new drug approval by the FDA as the treatment for cystinosis. His lab discovered the genetic bases of gray platelet syndrome, Hartnup disease, arterial calcification due to deficiency of CD73, two types of Hermansky-Pudlak syndrome, VPS45 deficiency, and several other genetic disorders. Dr. Gahl has published over 500 peer-reviewed papers and trained over 40 biochemical geneticists. He established American Board of Medical Specialties certification for medical biochemical genetics. He served 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. He received the American Medical Association’s Dr. Nathan Davis Award for Outstanding Government Service, the Service to America Medal in Science and the Environment, and the March of Dimes Samuel Pruzansky Memorial Lecture Award. In 2019, he was elected to the U.S. National Academy of Medicine and in 2020 received the U.S. Department of Health and Human Services Career Achievement Award.

Jean-Louis Mandel, M.D., Ph.D.

The French Foundation for Rare Diseases
Paris, France

Dr. Mandel is the president of the French Foundation for Rare Diseases (Fondation Maladies Rares), based in Paris, France. He received his medical degree from the University of Strasbourg Medical School and his Ph.D. in molecular biology from the University of Strasbourg in France. While at Centre Hospitalier et Universitaire (CHU) Strasbourg, he and his team discovered an unstable triplet-repeat expansion and abnormal DNA methylation in Fragile X syndrome and similar mutations in dominant and recessive ataxias, as well as identifying multiple other monogenic disease genes. Dr. Mandel developed diagnostic and genetic counseling applications based on mutation detection and introduced early next-generation sequencing–based diagnosis for intellectual disabilities, Bardet-Biedl syndrome, and DNA repair disorders. His current research concerns the identification of novel genes implicated in intellectual disability, and he has developed a participatory international database on the manifestations, comorbidities, and natural history of genetic forms of ID. He has been active in teaching human and medical genetics, including the ethical aspects of human genetics, to both students and the general public. 

Anne O’Donnell-Luria, M.D., Ph.D.

Broad Institute and Boston Children's Hospital
Boston, MA

Dr. O’Donnell-Luria is an assistant professor in pediatrics at Harvard Medical School in Boston, Massachusetts, and leads a research group at the Broad Institute of Harvard and MIT and Boston Children’s Hospital. She completed her M.D./Ph.D. training at Columbia University Medical Center followed by the Five-Year Boston Children’s Hospital and Harvard Medical School Combined Pediatrics-Genetics Residency Program and an additional year of clinical training in medical biochemical genetics. She undertook her postdoctoral training in the MacArthur laboratory at the Broad Institute. Dr. O’Donnell-Luria’s research focuses on using large-scale genomic and transcriptomic approaches to increase the rate of rare-disease diagnosis by improving rare-variant interpretation, empowering the discovery of novel disease genes, and understanding the mechanisms of incomplete penetrance. Together with Heidi Rehm from Massachusetts General Hospital, she coleads the Broad Center for Mendelian Genomics and the Rare Genomes Project, focusing on discovering novel disease genes. She is also a practicing clinician who runs the EpiChroma clinic at Boston Children’s Hospital, which specializes in evaluating families with Mendelian chromatin disorders. 

Sean Sanders, Ph.D.

Washington, DC

Dr. Sanders did his undergraduate training at the University of Cape Town, South Africa, and his Ph.D. at the University of Cambridge, UK, supported by the Wellcome Trust. Following postdoctoral training at the National Institutes of Health and Georgetown University, Dr. Sanders joined TranXenoGen, a startup biotechnology company in Massachusetts working on avian transgenics. Pursuing his parallel passion for writing and editing, Dr. Sanders joined BioTechniques as an editor, before joining Science/AAAS in 2006. Currently, Dr. Sanders is the Director and Senior Editor for Custom Publishing for the journal Science and Program Director for Outreach.

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