Participation in Scripps Translational Science study reveals cause of mystery condition
Brien and Rachel Ackerly knew something was terribly wrong with their daughter Cecily shortly after she was born when she started having seizures, and gastrointestinal and kidney problems.
But a diagnosis of her baffling symptoms had to wait until her DNA was sequenced as part of the IDIOM Study, a research project by the Scripps Translational Science Institute that uses genetic mapping to shed light on mystery diseases.
Brien, who works in the information technology department of Scripps Health, and Rachel told their story recently at STSI’s Future of Genomic Medicine conference. A U-T San Diego article reported some of the details of their session.
A review of Cecily’s DNA revealed a specific genetic mutation associated with the seizures, according to the U-T. That news gave her parents a welcomed sense of knowledge and control, and it let them refocus their lives on providing the care their daughter will need as she grows up.
Read the U-T article: Genomics Guides Parents with Child’s Disease