Scripps Study to Use Sequencing to Identify Rare, Life-Threatening Genetic Conditions

The Scripps Translational Science Institute, in conjunction with the San Diego Medical Examiner, is launching a study that will use genomic sequencing to help explain the causes of mysterious, sudden deaths in otherwise healthy children, adults, and infants. By analyzing DNA samples from both the deceased and living family members, the researchers will use the tests to identify rare genetic conditions, as well as to provide closure for grieving family members.

The ultimate goal of the research is to develop screening programs for relatives with the same DNA signature, allowing for therapy before the onset of life-threatening symptoms.

The study is currently limited to residents of San Diego County, however, the researchers are exploring expanding it to other regions. If you are interested in learning more about this study, you can find additional details and contact information for the study research staff here.

RGI has successfully referred two families for exome sequencing at Scripps, including the first international family to be accepted into Scripps’ Idiopathic Diseases of Man clinical research study.

See the full press release here.

February 19, 2015