Gene discovery for rare and undiagnosed genetic conditions

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

The Gene Discovery Core at The Manton Center for Orphan Disease Research focuses on families with rare and poorly understood genetic conditions. Participants provide DNA and tissue samples, along with medical records, to facilitate genomic sequencing and analysis aimed at identifying genetic causes of their conditions. The study seeks to enhance understanding of the genes involved in rare diseases, ultimately improving diagnosis and treatment options for affected individuals. Enrollment is open to individuals with any rare or undiagnosed condition, and results are communicated through healthcare providers after confirmation.

Why it matters

Who can join: the full rules

Inclusion Criteria:

* Having a known or uncertain rare diagnosis which may have a poorly understood genetic component and/or be a relative to a person with such a diagnosis

Exclusion Criteria:

* Not having such a diagnosis and/or not being related to such an individual

Where it's running

• Boston Children's Hospital
  Boston, Massachusetts, United States Recruiting

Study contacts

• Study coordinator: Katie Anderson, MS, CGC
• Email: gdc@childrens.harvard.edu
• Phone: 617-919-4287

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Other studies for the same condition or treatment. Recruiting studies are listed first.

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.