UW Undiagnosed Disease Program

~ 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

The goal of the UW-Undiagnosed Disease Program (UW-UDP) is to improve the health and well-being of individuals with undiagnosed disorders. The program’s objectives are to shorten the diagnostic odyssey for patients with rare diseases, discover new disease genes, develop novel diagnostic techniques, improve our understanding of the relationships between genomic variants and disease, and share our discoveries with the global genomic medicine community.

The UW-UDP has both clinical service and research components. Patients first are seen in the UW-UDP clinic. Patients who cannot be diagnosed by conventional means then are invited to enroll in the UW-UDP research study where they will undergo a comprehensive ‘omics analysis, starting with trio whole genome sequencing.

The UW-UDP’s strategy for identifying disease genes includes sharing of phenotypic and genotypic information with international databases as well as forging collaborations with model organism researchers at UW and around the world (See – UW Functional Genomics Network). In that regard, the Center for Human Genomics and Precision Medicine is a member of the Undiagnosed Diseases Network International.

The UW-UDP clinic accepts both self and/or physician initiated referrals.  Individuals who have already undergone an extensive evaluation (by a geneticist or specialist with knowledge of genetics) and have the highest likelihood of receiving a diagnosis and/or discovering a new disease gene will be given preference.

To make a recommendation to the UW-UDP, please contact April Hall at the contact information below. Please note, we do accept self-recommendations, though a healthcare provider signature is required when collecting the additional information.

If you or your child are early in your diagnostic journey and have not had an extensive evaluation or genetic testing, consider discussing with your health care provider a referral to Waisman Center Medical Genetics or your local Genetics Clinic.

If you have any questions, you may contact us:

April Hall, PhD, MS, CGC



Principal Investigator: Stephen Meyn, MD, PHD
Questions about being a research subject: Patient Relations Representative at (608) 263-8009