Gene discovery through genome sequencing for rare disorders
Part of Brain & nervous system, Genetic & congenital, Mental health clinical trials.
This study uses advanced gene sequencing to look for the genetic cause of rare diseases that haven't been explained yet. You or a family member might join to help find a diagnosis and contribute to medical research.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You must be older than 4 weeks at the time of participation.
- You (or a family member) must have a rare disorder with no known genetic cause.
- For children under 2 years old, only outpatient visits are generally allowed.
- Family members who could help with genetic analysis may also be included.
- If you are a minor or an adult who needs help making decisions, a legal guardian must be able to consent for you.
- If you are an adult with cognitive impairment, you must have legal guardianship established before joining.
Quick eligibility check
Answer a few plain-language questions, based on this study's own requirements, to get a preliminary sense of fit.
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