Study genes behind rare, genetic-looking illnesses
Part of Genetic & congenital clinical trials.
This study is trying to find the gene or body-process cause of rare diseases (or rare forms of common diseases) when the reason is not yet understood. If you qualify, you may be asked to give genetic and health information that could help doctors diagnose and understand the condition better.
Summary written for real people, not researchers, by Clin2.
Who can take part
- Have a suspected rare disease (or a rare type of a common disease) that may be genetic, but the cause is not yet known
- Or be a fetus with developmental differences where the cause is not yet known
- If you are a healthy relative or control, you must be willing to be part of the study for comparison
- Have consent from you (or a parent/guardian/legal representative) to join
- Have national health insurance coverage
- Be able to understand the study well enough to consent
Quick eligibility check
Answer a few plain-language questions, based on this study's own requirements, to get a preliminary sense of fit.
Similar studies
Other trials that look related to this one.
This study looks for a genetic (DNA) explanation for rare diseases when usual genetic testing hasn’t found an answer. It may help by re-analyzing prior results and comparing them with parents’ DNA to better pinpoint the cause.
This study looks for genetic causes of rare or unusual disease patterns in people living outside the United States. If you or a family member has a condition that seems to run in the family, started very early, or has an unusual form, you may be asked to provide a DNA sample and medical history.
This trial looks for gene changes that may explain rare conditions, even when the diagnosis is not fully understood. It may help families who have a rare condition or who are related to someone with one.
This study uses genome (DNA) sequencing to look for the genetic cause of rare disorders, especially when the cause is unknown. It may help some families better understand what is driving the condition, using genetic information from the affected person and often their parents.
This study brings together experts to analyze your medical information and genetic data, aiming to find a diagnosis for your rare or undiagnosed condition. If you're a Mayo Clinic patient with unexplained symptoms, this could be a chance to get answers.
This study tries to find genetic causes for rare diseases that are not yet understood. It uses a national rare-disease data bank and collects consent from patients and sometimes close family members.
Hear when a new Rare Diseases of Genetic Origin trial opens
We’ll email you when one opens — at most once a week, no account needed, unsubscribe anytime.