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.
This is an AI summary of the original study and may miss details. Read our disclaimer.
Get updates
Get notified about this study
Sign up to get updates when this study changes or when new studies for ORPHAN DISEASES are added.
By submitting, you agree to our Terms of use
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
Locations
-
Boston Children's Hospital
RECRUITINGBoston, Massachusetts, 02115, United States
More trials for these conditions
Other studies related to the condition(s) this trial covers.
- A cartoon-style program may help children with rare diseases understand their condition and boost mental health
- AI could shorten the long road to a rare disease diagnosis
- AI vs. rare diseases: can a computer Out-Diagnose doctors?
- Scientists analyze genetic markers in stored samples to boost personalized medicine
- AI reads faces to diagnose rare genetic diseases
- New digital tool lets rare disease patients control their research data