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A rare disease is defined as any disease that affects a small percentage of the population.
In the United States, the Rare Diseases Act of 2002 defines rare disease strictly according to prevalence, specifically "any disease or condition that affects fewer than 200,000 people in the United States", or about 1 in 1,500 people. This definition is essentially the same as that of the Orphan Drug Act of 1983, a federal law that was written to encourage research into rare diseases and possible cures.
In Japan, the legal definition of a rare disease is one that affects fewer than 50,000 patients in Japan, or about 1 in 2,500 people.
The European Commission on Public Health defines it meaning fewer than 1 in 2,000 people, but contains some cut-offs for diseases that are not chronically debilitating or inadequately treated.
The US organization Global Genes has estimated that more than 300 million people worldwide are living with one of the approximately 7,000 diseases they define as "rare" per the United States definition.
Chronic genetic diseases are commonly classified as rare, and among the 7000 conditions mentioned above, rare diseases may result from bacterial or viral infections, allergies, chromosome disorders, degenerative and proliferative causes, and may effect any body organ.Dr. David Fajgenbaum
Today's guest, who I'm honored to have join us to further delve into this topic, not just from the perspective of a clinician and investigator, but also as a patient himself, is Dr. David Fajgenbaum, MD.
Dr. Fajgenbaum earned his MD from the Perelman School of Medicine at the University of Pennsylvania, and is an Assistant Professor of Medicine in the Division of Translational Medicine & Human Genetics at Penn, Associate Director, Patient Impact of the Penn Orphan Disease Center, Founding Director of the Castleman Disease Center at Penn, and Co-Founder & Executive Director of the Castleman Disease Collaborative Network (CDCN).
Dr. Fajgenbaum leads the Castleman Research Program at Penn as principal investigator of 18 translational research studies, including an international natural history study and the first-ever NIH funded research of idiopathic multicentric Castleman disease (iMCD).
His published research has changed the way iMCD is researched and treated and as a patient himself, is in his longest remission ever thanks to a precision treatment that he identified. He is also the author of Chasing My Cure: A Doctor's Race to Turn Hope Into Action
Dr. Fajgenbaum co-founded the Castleman Disease Collaborative Network in 2012 to accelerate research and treatments for Castleman disease through a 'Collaborative Network Approach,' a business-inspired approach to biomedical research, which has become a blueprint for advancing rare disease research.
Dr. Fajgenbaum is also the Co-Founder of the National Students of AMF Support Network (Actively Moving Forward), a non-profit organization dedicated to supporting grieving college students due to a loved one's diagnosis or death (or their own diagnosis) of a terminal illness. He co-authored "We Get It: Voices of Grieving College Students and Young Adults," a book for grieving college students and those who wish to support them.
Dr. Fajgenbaum's work has been highlighted by the New York Times, Science, Today Show, Reader's Digest, Forbes Magazine, Perelman School of Medicine, World Affairs Council of Philadelphia, College of Physicians of Philadelphia, Everylife Foundation, Global Genes, and the University of Colorado.
Dr. Fajgenbaum also received his MBA from Penn, at The Wharton School, where he was awarded the Joseph Wharton Award, Core Value Leadership Award, Kissick Scholarship, Wharton Business Plan Competition Social Impact Prize, Eilers Health Care Management Award, Mandel Fellowship, and Commencement Speaker., where he was a 21st Century Gamble Scholar.On this show we will hear about:
Dr. Fajgebaum's background and life before his diagnosis with Castleman's disease, and his interest in becoming a doctor. The events surrounding his diagnosis with Castleman's disease in 2010. His discovery in 2012 of his own personal therapeutic regimen that helped put him into remission. His development of the Castleman Disease Collaborative Network. A discussion of drug "re-purposing" in the area of rare diseases. Finally, a discussion of his future research visions in the rare disease space.
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