Curated Gene List for Diagnosis of Sudden Unexpected Death in Pediatrics (SUDP)
A list of 203 genes has been curated for use in the post-mortem investigation of a child who has died with unexplained causes
Background
Sudden Unexplained Death in Pediatrics (SUDP) is an all-encompassing term for sudden deaths in children that remain unexplained after autopsy and investigation. It’s one of the leading causes of infant deaths with approximately 3,500 deaths in the United States alone per year–10% of all child mortality. However, the genetic risk factors behind SUDP are poorly understood. As a result, a reliable diagnostic test is critically needed both for determining the genetic cause of a SUDP and to understand heritable risk for survival in subsequent children in affected families.
Technology Overview
A list of 203 genes has been curated for use in the post-mortem investigation of a child who has died but with still unexplained causes after a complete autopsy. The list of risk-associated genes was developed through literature review and patient experience with a carefully phenotyped cohort of children who passed away from SUDP.
The Office of the Chief Medical Examiner (OCME) of Massachusetts has referred about 25% of SUDP cases (50-70 cases per year) to the Boston Children’s Roberts program for genetic screening done by Whole Exome Sequencing (WES) in collaboration with the Broad Institute.
Further Details:
- Goldstein, R. D., Nields, H. M., & Kinney, H. C. (2017). A New Approach to the Investigation of Sudden Unexpected Death. Pediatrics, 140(2), e20170024. https://doi.org/10.1542/peds.2017-0024.
Benefits
- Unique, detailed, and comprehensive data set through the unparalleled Boston Children’s Hospital’s Robert’s Program
- Methods for using genetic panels to identify cause of death that is otherwise unexplained
- Screens for latent disease in children at risk of SUDP
Applications
- Identification of cause of death (e.g by medical examiners) and pathophysiology of SUDP
- Identification of children–particularly siblings of SUDP patients–potentially at risk of SUDP
Patents
IP Status
