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UW Undiagnosed Genetic Diseases Program
Sponsor: University of Wisconsin, Madison
Summary
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.
Key Details
Gender
All
Age Range
Any - 100 Years
Study Type
OBSERVATIONAL
Enrollment
500
Start Date
2021-07-16
Completion Date
2030-10
Last Updated
2025-06-04
Healthy Volunteers
No
Interventions
Trio Whole Genome Sequencing and Participant-Specific Research
The initial evaluation begins with short-read genome sequencing of DNA extracted from blood of affected individual(s) and participating family members (The most common approach will be trio whole genome sequencing, which involves the affected child + their parents). Additional evaluation may include: functional assessments, animal modeling, reverse phenotyping (may require an interim visit), epigenetic profiling, or clinical database matching through selective sharing of coded patient data with external collaborators (e.g., via Matchmaker Exchange and Phenome Central), long read genome sequencing, de novo genome assembly, RNA sequencing, and novel bioinformatics analyses
Locations (1)
University of Wisconsin School of Medicine and Public Health
Madison, Wisconsin, United States