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RECRUITING
NCT04586075

UW Undiagnosed Genetic Diseases Program

Sponsor: University of Wisconsin, Madison

View on ClinicalTrials.gov

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

DIAGNOSTIC_TEST

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