Genetic detective study aims to solve medical mysteries for 1,000 undiagnosed patients
NCT ID NCT04586075
First seen May 30, 2026 · Last updated Jun 21, 2026 · Updated 3 times
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.
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This is a summary of
the original study
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Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
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Contacts and locations
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Study contacts
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Contact
Phone: •••-•••-••••
Locations
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University of Wisconsin School of Medicine and Public Health
RECRUITINGMadison, Wisconsin, 53705, United States
Contact
Contact Phone: •••-•••-•••• Email: •••••@•••••
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.
Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.