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Scripps, San Diego Medical Examiner to Use WGS to Solve Unexplained Deaths

NEW YORK (GenomeWeb) — Researchers at the Scripps Translational Science Institute have launched the Molecular Autopsy Study in partnership with the San Diego County Medical Examiner to combine whole-genome sequencing with forensics to solve cases of sudden unexplained death.

The team will sequence the genomes of adults, children, and infants in the region whose death cannot be explained using traditional medical investigative methods. According to the medical examiner, a dozen or more cases occur every year in San Diego County.

The goal is to identify genes that are associated with sudden death and previously unrecognized genetic mechanisms for the cases. The findings will be used to develop preventative screening programs and interventions for relatives of study participants and others.

"If genetic sequencing and careful analysis of DNA data can help establish a cause in some of these cases, that could answer important questions for surviving family members and provide a sense of closure from a painful loss," San Diego County Chief Deputy Medical Examiner Jonathan Lucas said in a statement.

"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," Eric Topol, STSI director, said in the statement.

Study participants must be 45 years old or younger without a history of excessive drug use, alcohol abuse, morbid obesity, heart disease, or other serious medical conditions.

The medical examiner will initially identify potential participants, who will then be reviewed by the STSI research team, and then the family will be contacted for consent.

Once consented, the researchers will collect blood and heart muscle samples for analysis, as well as DNA from the participant's parents or other biological family members for comparison.

The team aims to enroll 100 primary participants and is considering expanding to other counties in California.

Already, the researchers have enrolled at least one participant — a 31-year old man who died on June 26 while lying on his couch watching a World Cup soccer match.

"He was very active and very healthy," his mother Mary Lappies said in a statement. "He didn't show any signs of being sick or not feeling good. It came with absolutely no warning."

"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," Ali Torkamani, director of genomic informatics and drug discovery at STSI, said in a statement. "We hope that if a rare life-threatening genetic condition is detected, life-saving interventions may be indicated in living relatives."