Investigators at Boston Children's Hospital are conducting research in order to better understand the genetic factors which may contribute to neonatal encephalopathy (NE) and related disorders. These findings may help explain the broad spectrum of clinical features and outcomes seen in individuals with a history of NE.
Neonatal encephalopathy (NE) is a disorder of term newborns involving dysfunction of the central nervous system and can impact one's health throughout the lifespan. While NE can be caused by a number of exposures or external factors, in some cases there is no cause identified or the severity of the condition cannot fully be explained by external factors. In these cases, there is increasing evidence to suggest underlying genetic factors may contribute to NE. The investigators' research effort is focused on identifying genetic changes (known as "DNA variants") that cause or contribute to NE. By doing so the investigators hope to improve diagnosis and management of NE. We have two specific aims: Aim 1: To identify genetic causes of and contributors to NE and related disorders. Aim 2: To correlate genetic findings with clinical features.
Study Type
OBSERVATIONAL
Enrollment
300
Boston Children's Hospital
Boston, Massachusetts, United States
Diagnostic yield
The diagnostic yield of genomic sequencing will be calculated as the percentage of enrolled participants with NE who receive a genetic diagnosis.
Time frame: 10 years
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