UW Undiagnosed Disease Program

View of Center for Precision Medicine research Lab in WIMR

Rare Disease in Wisconsin and Beyond

Rare Diseases by the numbers

7K+

There are more than 7,000 rare genetic disorders affecting over 1 in 12 Americans

450K

Most of the 450,000 Wisconsinites suffering from a rare genetic disorder are undiagnosed

2K+

More than 2,000 genetic disorders have yet to be discovered

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

Call to action

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:

Self-referrals (A healthcare provider’s signature is required for additional documentation)
Physician referrals (from the University of Wisconsin and nationwide)

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@precisionmedicine.wisc.edu
(608)-263-5877

Bryn D. Webb, MD, FACMG
UW-UDP Director

trio of logos - for the NORD, UW Department of Pediatrics and Undiagnosed Disease Network