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\title{Science AMA Series: Hi! We're William Gahl and Cyndi Tifft, NIH
researchers in the Undiagnosed Diseases Network, a program to solve
medical mysteries. Ask us anything about rare diseases, genomic
medicine, or the Undiagnosed Diseases Network!}



\author[1]{Undiagnosed_Diseases }%
\author[1]{r/Science AMAs}%
\affil[1]{Affiliation not available}%


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  \date{April 24, 2026}


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\begin{abstract}
The doctors involved in the Undiagnosed Diseases Network (UDN) are
real-life House M.D.s. We're using genome sequencing along with a
network of specialists from numerous medical disciplines at seven
clinical sites around the country to diagnose the most challenging and
rare genetic diseases. But rare genetic diseases aren't so 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. And even despite the
impressive state of medical technology today, the causes of many rare
genetic diseases remain mysteries. Since accepting its first patient in
2015, the UDN -- an NIH-funded program -- has been trying to find the
causes and treatments for patients with unknown disorders and to help
provide answers for families that have nowhere else to turn. The UDN is
an expansion of an Undiagnosed Diseases Program initiated in 2008 within
the Intramural Research Program of the National Human Genome Research
Institute (NHGRI). This week at NIH and around the world, we celebrated
Rare Disease Day. To help raise awareness in the science community and
share info about rare diseases and their impact on patients' lives,
we're here today to answer your questions about rare diseases, how the
UDN is using genomic techniques to find cures, or just how to find
support if you or a loved one is suffering from a rare, undiagnosed
condition. Today's AMA brings together us -- two UDN investigators at
the NIH Clinical Center -- along with Chad Smith, the father of a young
boy with a rare, unidentified condition whom we evaluated at the
Clinical Center in June 2016. A bit more about us. We are: Dr. William
Gahl: Clinical Director, and Head of the Undiagnosed Diseases Program
(UDP) at NHGRI, one of seven clinical sites within the UDN. Dr. Cyndi
Tifft: Deputy Clinical Director, and Head of the Pediatric portion of
the UDP at NHGRI. Mr. Chad Smith (aka ``Chad the Dad''): Father of
Blake, an 8-year old undiagnosed child who is currently being researched
by the UDN. We will be answering your questions at 1 p.m. ET -- Ask Us
Anything! Update: We're signing off for now, but thanks to the Reddit
community for such thoughtful and engaging questions! We had a blast and
hope to do it again sometime to share more stories from the Undiagnosed
Diseases Network. (More info here: https://undiagnosed.hms.harvard.edu/)%
\end{abstract}%



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