Condition: Rare Diseases · Genetic Disease · Undiagnosed Disease · Sponsor: University of Wisconsin, Madison
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.
This description comes directly from the study's public registry record.
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| University of Wisconsin School of Medicine and Public Health | Madison, Wisconsin, United States | Recruiting |
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Source record: clinicaltrials.gov/study/NCT04586075