Rare Disease as an Emerging and Distinct Field of Medicine
Marshall Summar, M.D.
Chief, Division of Genetics and Metabolism
Director, Rare Disease Institute
Magaret O'Malley Chair, Genetic Medicine
Children's National Hospital
Rare Disease as an Emerging and Distinct Field of Medicine
Date: Aug. 30, 2022
Time: 1 - 2 p.m.
About this Seminar
With the completion of the human genome sequence and the advent of affordable molecular sequencing, the field of genetic rare diseases has exploded. With over 8000 conditions described (and counting), the classic expectation of a physicians encyclopedic knowledge of their field is unrealistic. The pace of therapeutic development for rare disease is also explosive with 52% of new drugs approved by the FDA for rare diseases. This lecture will describe this oncoming wave and discuss new models that can be used to care for patients.
You May Also Be Interested In...
-
Home ItemIn Person Seminar: Win to Fight and Lose to Flight: Innate Yet Flexible Aggression Circuit , home
March 24, 2023, 11 a.m. | Dayu Lin, Ph.D., Professor, Department of Psychiatry, Grossman School of Medicine, New York University | Pioneers in Biomedical Research Seminar Series | Co-Sponsored by the Fralin Biomedical Research Institute Center for Neurobiology Research
-
Home ItemSeminar: Signaling and Metabolic Control of Nucleotide Metabolism in Cancer , home
March 27, 2023, 11 a.m. | Eunus S. Ali, Ph.D., Postdoctoral Associate, Department of Biochemistry and Molecular Genetics, Feinberg School of Medicine, Northwestern University | Seminar
-
Home ItemIn Person Seminar: Quantifying Diverse Research Representation , home
March 31, 2023, 11:00 a.m. | Jonathan Jackson, Ph.D., Executive Director, Community Access, Recruitment, and Engagement (CARE) Research Center, Harvard University and Massachusetts General Hospital | Pioneers in Biomedical Research Seminar Series | Co-Sponsored by the Fralin Biomedical Research Institute Center for Human Neuroscience Research
-
Home ItemIn Person Lecture: Synaptic Injury: A Link to the Past , home
March 31, 2023, 1 p.m. | Terrance Kummer, M.D., Ph.D., Associate Professor of Neurology, Washington University School of Medicine in St. Louis | Timothy A. Johnson Medical Scholar Lecture Series
-
Home ItemSeminar: Understanding Cancer: From Development to Therapy , home
April 5, 2023, 11 a.m. | Biplab Dasgupta, M.S., Ph.D., MBA, Professor of Pediatrics, Division of Oncology, Cincinnati Children's Hospital | Seminar
-
Home ItemIn Person Seminar: Brain Dynamics and Flexible Behaviors , home
April 14, 2023, 11:00 am. | Lucina Q. Uddin, Ph.D., Professor in Residence, Department of Psychiatry and Biobehavioral Science, University of California, Los Angeles | Pioneers in Biomedical Research Seminar Series | Co-Sponsored by the Fralin Biomedical Research Institute Addiction Recovery Research Center and Center for Health Behaviors Research