Trial Now Recruiting: Genome Medical Sequencing for Gene Discovery (NCT01087320)
WHY IT MATTERS
If 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.
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.
NCT ID: NCT01087320 Status: RECRUITING Conditions: Intellectual Disabilities, Congenital Anomaly, Rare Disorders Enrollment: 2000 Sponsor: National Human Genome Research Institute (NHGRI) Summary: Background: \- A number of rare inherited diseases affect only a few patients, and the genetic causes of these conditions remain unknown. Researchers are studying the use of a new technology called genome sequencing to learn which gene or genes cause these conditions. Understanding the genes that cause these diseases is important to improve diagnosis and treatment of affected patients. Objectives: * To identify the genetic cause of disorders that are difficult to identify with existing techni
YOU CAN ACT ON THIS
Visit clinicaltrials.gov (NCT01087320) or contact the National Human Genome Research Institute to see if you or your child qualify and learn about enrollment at participating sites.