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2 articles from the last 90 days matching "gene discovery"

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 →
ResearchCLINICALTRIALSMar 26

Trial Now Recruiting: Gene Discovery Core, The Manton Center (NCT02743845)

Boston Children's Hospital is looking for 10,000 families with rare genetic diseases that haven't been diagnosed or fully understood yet. Researchers will study the genes and proteins in these families to figure out what's causing their conditions. The goal is to help doctors diagnose and treat rare diseases better in the future.

WHY IT MATTERSIf your family has been searching for answers about a rare or undiagnosed genetic condition, this study could help identify what's causing it and contribute to better treatments for others with the same disease.
You can act on thisUndiagnosed genetic conditionsRare genetic disordersOrphan diseasesRead →

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