Massive gene hunt aims to solve medical mysteries for thousands with rare diseases
NCT ID NCT02743845
First seen Jun 25, 2026 · Last updated Jun 27, 2026 · Updated 1 time
Summary
This study at Boston Children's Hospital is enrolling up to 10,000 people with rare or undiagnosed conditions, along with their family members. Researchers will analyze DNA samples to find the genetic causes of these illnesses. The goal is to improve diagnosis and understanding of rare diseases, which could eventually lead to better treatments.
What this could mean
Our plain-language read of the trial. This is informational only — not medical advice or a prediction.
What this could lead to
If successful, this research could lead to better diagnosis and, eventually, new treatments for rare genetic diseases.
What could go wrong
This is an observational study, not a treatment trial. Finding a genetic cause does not guarantee a cure or therapy, and results may take years.
Disclaimer
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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.
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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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.
Contacts and locations
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Study contacts
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Contact
Phone: •••-•••-•••• Email: •••••@•••••
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Contact
Phone: •••-•••-•••• Email: •••••@•••••
Locations
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Boston Children's Hospital
RECRUITINGBoston, Massachusetts, 02115, United States
Contact Phone: •••-•••-•••• Email: •••••@•••••