Rare Disease in Wisconsin and Beyond
~ There are more than 7,000 rare genetic disorders affecting over 1 in 12 Americans
~ 35% of deaths in individuals less than 1 year are due to rare genetic disorders
~ 30% of children with a rare genetic disorder die within the first 5 years
~ Most of the 450,000 Wisconsinites suffering from a rare genetic disorder are undiagnosed~More than 2,000 genetic disorders have yet to be discovered
Our Mission
The UW Undiagnosed Disease Program (UW-UDP) is dedicated to improving the lives of individuals with suspected rare genetic disorders who remain undiagnosed. Our goals include:
✔️ Reducing the diagnostic odyssey for patients with rare diseases
✔️ Discovering new disease genes and expanding medical knowledge
✔️ Developing cutting-edge diagnostic tools and techniques
✔️ Advancing understanding of genomic variants and disease relationships
✔️ Sharing discoveries with the global genomic medicine community
As a designated Diagnostic Center of Excellence and member of the NIH Undiagnosed Diseases Network (UDN), we are proud to be at the forefront of rare disease research and patient care.
Who We Evaluate
The UW-UDP evaluates both children and adults with rare diseases. We accept:
- Physician referrals (from the University of Wisconsin and nationwide)
- Self-referrals (A healthcare provider’s signature is required for additional documentation)
Our Impact
For the first 44 cases analyzed, we have achieved a 34.1% diagnostic rate—providing answers and hope to patients and families.
For more information on referrals and eligibility, please contact research@chgpm.wisc.edu
Bryn D. Webb, MD, FACMG
UW-UDP Director
Recent Publications
- An oligogenic case of severe neonatal thrombocytopenia and a purportedly benign variant in GFI1B requiring reinterpretation
- Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon
- Sequence variants in HECTD1 result in a variable neurodevelopmental disorder
- The University of Wisconsin Undiagnosed Disease Program: Unveiling Rare Neurodevelopmental Disorders in Exome-Negative Patients