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Genetic detective study aims to solve medical mysteries for 1,000 undiagnosed patients

NCT ID NCT04586075

Recruiting now Knowledge-focused Sponsor: University of Wisconsin, Madison Source: ClinicalTrials.gov ↗

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This study is for people with rare, undiagnosed genetic conditions that standard tests couldn't identify. Researchers will use whole genome sequencing of the patient and their parents, plus advanced lab work, to find new disease genes and provide a diagnosis. The goal is to give answers and better understand these disorders, not to test a treatment.

What this could mean

Our plain-language read of the trial. This is informational only — not medical advice or a prediction.

Active substance
Trio whole genome sequencing and participant-specific research
What this could lead to
If successful, this could help diagnose people with mysterious genetic conditions and uncover new disease genes, potentially guiding future treatments.
What could go wrong
This is an early-stage research study focused on discovery, not a treatment trial. Many participants may remain undiagnosed, and findings may not lead to immediate therapies.

This is an AI summary of the original study and may miss details. Read our disclaimer.

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Conditions

The condition(s) this trial relates to.

hereditary disease Rare Diseases Undiagnosed Diseases

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

GENETIC DISEASE RARE DISEASES UNDIAGNOSED DISEASE

Contacts and locations

Locations

  • University of Wisconsin School of Medicine and Public Health

    RECRUITING

    Madison, Wisconsin, 53705, United States

    Contact Email: •••••@•••••

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