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 Item
Disability Identity, Inclusivity & Representation in Research , homeFeb. 14, 2025, 11:00 a.m. | Anjali Forber-Pratt, Ph.D., Director of Research, American Association on Health and Disability | Co-Sponsored by the Fralin Biomedical Research Institute Center for Human Neuroscience Research
-
Home Item
How Big Med Drives Rising Healthcare Costs and What to Do About It , homeFeb. 20, 2025, 5:30 p.m. (Reception at 5 p.m.) | Vivian Ho, Ph.D., James A. Baker III Institute Chair in Health Economics, Baker Institute for Public Policy, Rice University | Maury Strauss Distinguished Public Lecture
-
Home Item
Addictive Nicotine and Stress Induce Convergent Mechanisms That Increase Alcohol Self‐administration , homeFeb. 21, 2025, 11:00 a.m. | John Dani, Ph.D., Professor of Neurological Sciences, Chair, Department of Neuroscience, Scientific Director, UPENN, CNS Consortium, Perlman School of Medicine, University of Pennsylvania | Co-Sponsored by the Fralin Biomedical Research Institute Center for Human Neuroscience Research
-
Home Item
Exploring the Functional Role of Gene Variation in Nicotine and Alcohol Abuse , homeFeb. 21, 2025, 1 p.m. | Mariella De Biasi, Ph.D., Professor, Director, Program for Cholingeric Mechanisms in Addiction, Perlman School of Medicine, University of Pennsylvania | Co-Sponsored by the Fralin Biomedical Research Institute Center for Human Neuroscience Research
-
Home Item
The Relationship between Mitochondrial Function and Heart Failure , homeFeb. 28, 2025, 11:00 a.m. | Rong Tian, M.D., Ph.D., Professor, Department of Anesthesiology and Bioengineering, University of Washington | Co-Sponsored by the Fralin Biomedical Research Institute Center for Vascular and Heart Research
-
Home Item
Suicide by Firearm in the United States: A Collaborative Path for Prevention , homeMarch 6, 2025, 5:30 p.m. (Reception at 5 p.m.) | Marian Betz, M.D., M.P.H. Professor, Departments of Epidemiology and Emergency Medicine, Deputy Director, Injury & Violence Prevention Center, University of Colorado School of Public Health; Member, National Academy of Medicine | Maury Strauss Distinguished Public Lecture