RecruitingNCT04586075

UW Undiagnosed Genetic Diseases Program

Sponsor

University of Wisconsin, Madison

Enrollment

1,000 participants

Start Date

Jul 16, 2021

Study Type

OBSERVATIONAL

Conditions

Genetic Disease Rare Diseases Undiagnosed Disease

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.

Eligibility

Max Age: 100 Years

Inclusion Criteria6

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 Criteria4

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.

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Interventions

DIAGNOSTIC_TESTTrio 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