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2 articles matching "genetic disorder"

Clinical trialCLINICALTRIALS5 days ago

Trial Now Recruiting: Novel Genetic Disorders of the Immune System (NCT02257892)

Researchers are looking for adults and children with certain immune system disorders to join a study. The immune system normally helps your body fight infections, but in some people it doesn't work properly, causing frequent infections and other health problems. This study wants to understand why some immune systems fail and how to help people with these conditions. Relatives of affected people may also be able to join.

WHY IT MATTERSThis trial is actively recruiting 500 participants with four specific genetic immune disorders (PI3KCD, CTLA4, STAT3GOF, and MAGT1 deficiency) — if you or a family member has one of these diagnoses, you may be eligible to enroll now and contribute to understanding these rare conditions.
→ You can act on thisPI3KCD deficiencyCTLA4 deficiencySTAT3 gain-of-function disorderRead →
Clinical trialCLINICALTRIALSMar 26

Trial Now Recruiting: Genome Medical Sequencing for Gene Discovery (NCT01087320)

Researchers are recruiting 2,000 people with rare genetic disorders to participate in a study using a new technology called genome sequencing. This technology reads a person's entire genetic code to find which gene is causing their disease. The goal is to help doctors better diagnose and treat patients with rare conditions that are hard to identify with current testing methods.

WHY IT MATTERSIf you or a family member has an undiagnosed rare disorder affecting development or birth defects, this trial could identify the genetic cause—potentially opening doors to targeted treatment and genetic counseling for relatives.
→ You can act on thisIntellectual DisabilityCongenital AnomaliesRare Genetic DisordersRead →

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