Molecular Autopsy
The Molecular Autopsy study seeks to incorporate genetic testing into the postmortem examination of cases of sudden, unexplained death, initially in San Diego with plans to expand nationally and internationally. Genetic testing of the index subjects and their parents (or other biological family members if parents are not available) will be assessed for potential heritable causes of sudden death.
By combining the wide catchment base of the San Diego Medical Examiner, the sequencing expertise of San Diego-based collaborators, the computing power of the San Diego Supercomputer Center and our in-house and external genomic analytics capabilities, Scripps Research Translational Institute aims to provide a more complete identification, characterization and understanding of the genetic causes of sudden death.
Ultimately, findings from this study will be utilized to identify previously unrecognized mechanisms of sudden death, allowing for the development of preventive screening programs and potentially life-saving interventions.
Re-analysis of whole-exome sequencing data unovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases, Genome Medicine, 2019
Returning Results to Family Members: Professional Duties in Genomics Research in the United States, J Leg Med., 2018
Molecular Autopsy for Sudden Death in the Young: Is Data Aggregation the Key?, Front Cardiovasc Med., 2017
"Clues to a Family’s Heart Disease," The Wall Street Journal, 2016
"San Diego Scientists Solve Mystery Behind A Son’s Sudden Death," KPBS, 2016
"Clinical trial seeks answers to sudden deaths of healthy young people," Los Angeles Times, 2014