UW Undiagnosed Genetic Diseases Program

Description

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 over approximately 5 years time.

Conditions

Rare Diseases, Genetic Disease, Undiagnosed Disease

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Study Overview

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Study Details

Study overview

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 over approximately 5 years time.

UW Undiagnosed Genetic Diseases Program

UW Undiagnosed Genetic Diseases Program

Condition
Rare Diseases
Intervention / Treatment

-

Contacts and Locations

Madison

University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, United States, 53705

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility 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.
  • * 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.

Ages Eligible for Study

to 100 Years

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

University of Wisconsin, Madison,

Stephen Meyn, MD PhD ABMGG, PRINCIPAL_INVESTIGATOR, University of Wisconsin, Madison

Study Record Dates

2025-10