One constant worry for parents after the sudden unexpected death of their child is what it might mean for their other children or their subsequent children. Advances in the scientific understanding of SUDP and genetic approaches to determining rare and undiagnosed diseases offer new possibilities. In some cases, that may mean an explanation for a child’s death. In other cases, it may mean a better understanding of the degree of heritable risk within a family, providing either reassurance or identifying families who should be referred for the further medical evaluation.
The Cooper Trewin Brighter Days Program to Validate a Genetic Screen for SUDP provides the needed spark to help bring this testing into reality. This generous gift to Robert’s Program on Sudden Unexpected Death in Pediatrics will support researchers at Boston Children’s Hospital, Harvard Medical School, and the Harvard/MIT Broad Institute, who are getting closer to the goal of developing this genetic testing into an accessible, reliable and affordable screening tool for medical assessment. In the words of Dr. Richard Goldstein, the Principal Investigator for the Program, “this gift comes at a perfect point in the development of our genetic screening, and there is shared excitement about the impact this gift will have. We get closer all the time to providing meaningful answers to families struggling to understand these tragic deaths”. Robert’s Program has been working to develop a comprehensive list of over 200 genes that have been reported to be associated with sudden death or mechanisms that could lead to sudden death in infants and children who otherwise appear well. These genes involve metabolic, neurologic, cardiac and/or immune causes.
Thanks to the Cooper Trewin Brighter Days Fund, answers get closer every day. This is the second effort by Robert’s Program to be supported by the Cooper Trewin Brighter Days Fund. In the first, researchers worked successfully to further develop magnetic resonance imaging (MRI) for use in infants and children. Researchers started from brain tissue with characteristic abnormalities that have been discovered in infants and children dying unexpectedly. Their work refined the image quality in key regions of the brain to approximate the same focus that is gained looking at autopsy samples under a microscope. This amazing work will allow for better evaluations of children in these tragic circumstances, and may lead to identifying and preventing deaths in children most at risk.