The Cooper Trewin Foundation is proud to support Robert’s Program on Sudden Unexpected Death in Pediatrics at Boston Children’s Hospital in their groundbreaking research into the genetic causes of sudden death in infants, children, and individuals with epilepsy. This work is led by Dr. Annapurna Poduri in her laboratory, with critical contributions from post-doctoral fellow Dr. Sneham Tiwari.
Recent studies funded by the Foundation have focused on a gene called DEPDC5, which has only recently been linked to human disease. Variants in this gene have been associated with sudden unexpected death in individuals with epilepsy (SUDEP). Remarkably, Robert’s Program has also identified similar genetic changes in children who died suddenly without any history of epilepsy, highlighting a potentially broader role for DEPDC5 in unexplained pediatric deaths.
To explore this, the Poduri Lab has developed a zebrafish model using advanced CRISPR/Cas9 gene editing to study the effects of faulty DEPDC5 protein. Observations of hundreds of zebrafish larvae revealed that nearly half did not survive beyond a few days, representing a fish equivalent of sudden unexpected death. Surviving fish exhibited seizure-like swimming behaviors and electrical hyperexcitability, pointing to a possible connection between SUDI, SUDC, and epilepsy.
The next phase of this research aims to uncover why abnormalities in DEPDC5 can lead to untimely death, as seen in SUDI and SUDC cases. Additionally, this model provides a platform for studying other genes implicated in sudden death, advancing our understanding of the genetic factors that the Robert’s Program team continues to identify.
This research underscores the critical role of genetics in understanding and preventing sudden death in children, and the Cooper Trewin Foundation remains committed to supporting these life-saving investigations.
For more information about the Robert’s Program, visit Robert’s Program at Boston Children’s Hospital
Recent Comments