Since accepting its first patient in 2015, the Undiagnosed Diseases Network (UDN), which is funded by the National Institutes of Health, has been working to find answers for patients with unknown disorders that have nowhere else to turn. The 13 UDN sites across the country conduct basic and clinical research to improve the level of diagnosis and uncover the underlying disease mechanisms associated with these rare conditions. The UDN is an expansion of an Undiagnosed Diseases Program initiated in 2008 at the NIH Clinical Center in Bethesda, MD. Many liken our work to the popular television show House M.D., although we would argue that diagnosing a rare disease in one hour is pretty much impossible!
Rare diseases aren’t that rare. The National Organization for Rare Disorders (NORD), as well as the Rare Diseases Act of 1983, defines a rare disease as one that affects fewer than 200,000 people in the United States. It has been estimated that approximately 25 million Americans have a rare disease. This week, we and others around the globe will be celebrating Rare Disease Day. We’re doing this AMA to raise awareness about rare and undiagnosed diseases among the scientific community and share information about rare diseases and their impact on patients and families.
A bit more about us. We are:
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Dr. Loren Pena: a clinical geneticist and Associate Professor of Pediatrics at Duke Medicine, one of seven clinical sites within the UDN. I see patients in the Duke genetics clinic and evaluate patients enrolled in the UDN at Duke.
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Mr. Jamie Mills: the father of Quinn, a 3-year-old boy diagnosed with an extremely rare genetic disease by the Duke UDN team last year. Quinn’s particular mutation is so rare that at this time there are only 10 known cases around the world. I am also co-chair of the UDN Participant Engagement and Empowerment Resource (PEER), a group of participants and family members who have participated in the UDN.
We will be answering your questions at 1 p.m. ET – Ask Us Anything!
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