Local San Diegan Jason Lappies was as healthy as ever when he laid down on his couch June 26 to watch a World Cup soccer match.
Hours later, his roommate came home to find his dead body on the couch of their apartment. He was young and healthy, and there were no warning signs, his mother said in a press release.
The mystery of the healthy 31-year-old’s unexplained death is one of many each year that a new clinical study hopes to unravel. A dozen or more of these deaths occur annually in San Diego County, the medical examiner said Wednesday.
Lappies was the first participant in the Molecular Autopsy Study, a collaborative study that brings researchers at the Scripps Translational Science Institute together with the San Diego County Medical Examiner’s Office to solve such deaths using genomics, or a type of molecular biology that focuses on the structure and evolution of genomes.
The institute has teamed up with the San Diego County Medical Examiner's Office to sequence the genomes of adults, children, and infants in the county whose deaths, most likely a result of health failure, have not been explained using traditional medical investigative methods.
Following these unexplained and sudden deaths, family members often wonder if something similar could affect them.
“This may turn out to be important not only for family members to know if they are at risk and need to take preventive steps, but also for the public to avoid such catastrophes in young people,” said STSI Director Eric Topol, M.D., who also is chief academic officer of Scripps Health.
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The study hopes to enroll up to 100 primary study participants and, with consent, their biological family members. Participants, initially identified by the Medical Examiner’s staff, must be 45 years or younger and must not have any history of excessive drug use, alcohol abuse, morbid obesity, heart disease or any other serious medical conditions.
Researchers are looking into the possibility of expanding the project to other county medical examiner departments in California in addition to other regions in the county.
“In individuals with early unexplained sudden death, genome sequencing has the ability to uncover rare conditions with difficult-to-detect symptoms that are invisible to standard physical autopsy,” said Ali Torkamani, director of genomic informatics and drug discovery at STSI. “We hope that if a rare life-threatening genetic condition is detected, life-saving interventions may be indicated in living relatives.”
Officials will use the findings of the study to develop preventative screening programs and potentially life-saving interventions for relatives of study participants and others.
