Curated gene list for diagnosis of sudden unexpected death in pediatrics
Inventors: Catherine Brownstein, Richard Goldstein, Ingrid Holm, Gerard Berry
Invention Types: Diagnostic/Prognostic
Research Areas: Pathology
Keywords: Biomarker, Gene expression, Neonatology/Pediatric, Pediatric
Sudden unexplained death in pediatrics (SUDP) is an inclusive term for sudden deaths in children that remain unexplained by standard autopsy and death scene investigation. This mortality includes the sudden infant death syndrome (SIDS), sudden unexpected infant death (SUID), sudden unexplained death in childhood (SUDC) and undetermined deaths. While SUDP is a diagnosis of exclusion, the Robert’s Program on SUDP at Boston Children’s Hospital considers the possibility that these deaths are instances of extreme, lethal phenotypes of undiagnosed diseases and may have genetic causes. SUDP accounts for nearly 10% of all child mortality in the US.
Through their unique program of case review and family assessment, Richard Goldstein, MD and colleagues compiled literature reviews, family histories and phenotypic data to identify a panel of 203 genes associated with SUDP. The investigators propose the use of this comprehensive panel for identification, study, and prevention of SUDP. They recognize the near universal desire for families to learn more about the reasons for the child’s death and understand the potential risk to siblings.
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• Identify cause of death and pathophysiology of SUDP
• Identify children, particularly siblings of SUDP patients, at risk of SUDP for treatment of predisposing pathologies
• Unique, detailed and comprehensive data set through unparalleled Boston Children’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
Sponsored research or collaboration
Key Publications: Goldstein R, Nields HN, Kinney H. A new approach to the investigation of sudden unexpected death. Pediatrics, 140(2), 2017.
IPStatus: Pat. Pend.