UW Undiagnosed Genetic Diseases Program

Launched by UNIVERSITY OF WISCONSIN, MADISON · Oct 6, 2020

Keywords

ClinConnect Summary

The UW Undiagnosed Genetic Diseases Program is a clinical trial aimed at finding new genetic causes for rare diseases that doctors have been unable to diagnose. The study is looking for 500 participants who have unexplained health issues that might be linked to genetics. Over the next five years, researchers will use advanced testing methods to help understand these rare conditions better and possibly identify new disease genes.

To qualify for the study, participants must have a health condition that remains undiagnosed even after thorough medical evaluations, including genetic tests. They should have some signs that suggest a genetic cause, and they or their guardians must agree to share their health information for research purposes. Participants can expect to undergo various genetic tests and may receive important findings about their condition. This program is open to individuals of all ages and genders, and it aims to provide hope for those who have been searching for answers about their mysterious health issues.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • The applicant has a condition that remains undiagnosed despite thorough evaluation by healthcare providers (including clinical genetic testing).
• • The applicant has at least one objective finding that is likely to have an identifiable genetic etiology.
• • The applicant likely has a currently undescribed/new genetic condition or a known genetic condition associated with a novel gene.
• • The applicant/legal guardian agrees to the collection, storage and recurrent sharing of coded information and biomaterials for research and diagnostic purposes both within and outside of the University of Wisconsin-Undiagnosed Diseases Program (UW-UDP)
• • The applicant/legal guardian agrees to receive secondary findings from genetic testing.
• • The applicant/legal guardian has sufficient proficiency in English to understand the consent.
• Exclusion Criteria:
• • The applicant already has a diagnosis that explains the objective findings.
• • A specific diagnosis is suspected and a standard clinical workup performed by the referring/primary care provider would be appropriate.
• • The UW-UDP is unlikely to improve on the comprehensive workup the applicant has already received.
• • The applicant's symptoms are likely multifactorial or due to a non-genetic cause.