Actively Recruiting
UW Undiagnosed Genetic Diseases Program
Led by University of Wisconsin, Madison · Updated on 2025-06-04
500
Participants Needed
1
Research Sites
480 weeks
Total Duration
On this page
Sponsors
U
University of Wisconsin, Madison
Lead Sponsor
U
University of Wisconsin Center for Human Genomics and Precision Medicine
Collaborating Sponsor
AI-Summary
What this Trial Is About
The primary purpose of this study is to discover new disease genes for rare Mendelian disorders and its secondary purpose include diagnosing people with rare genetic disorders that have not been previously diagnosed through conventional clinical means, learning more about the pathobiology of genetic disorders, and developing novel diagnostic technologies and analytics. 500 participants with undiagnosed and suspected genetic disorders will be recruited.
CONDITIONS
Official Title
UW Undiagnosed Genetic Diseases Program
Who Can Participate
Eligibility Criteria
You may qualify if you...
- 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 likely to have an identifiable genetic cause
- The applicant likely has a new or undescribed genetic condition or a known condition linked to a novel gene
- The applicant or legal guardian agrees to the collection, storage, and repeated sharing of coded information and biomaterials for research and diagnostic purposes
- The applicant or legal guardian agrees to receive secondary findings from genetic testing
- The applicant or legal guardian has enough proficiency in English to understand the consent
You will not qualify if you...
- The applicant already has a diagnosis explaining the symptoms
- A specific diagnosis is suspected that can be addressed by standard clinical workup by the primary care or referring provider
- The UW Undiagnosed Diseases Program is unlikely to improve on the comprehensive workup already performed
- The applicant's symptoms are likely due to multiple factors or non-genetic causes
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
University of Wisconsin School of Medicine and Public Health
Madison, Wisconsin, United States, 53705
Actively Recruiting
Research Team
J
Jadin Heilmann
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
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