
Study reveals potential genetic determinants of unexplained child deaths
pharmafile | February 25, 2022 | News story | Medical Communications |
Various genetic determinants may cause a predisposition to Sudden Unexpected Death in Paediatrics (SUPD), which encompasses syndromes such as Sudden Infant Death Syndrome (SIDS) and Sudden Unexpected Infant Death (SUID), according to a recent study published in Genetics in Medicine.
The researchers analysed data from both proband (first affected individual)-only cases and proband-parent trios referred to Robert’s Programme on SUDP, a clinical service at Boston Children’s Hospital (BCH) for families who have experienced the unexpected and sudden death of a child. The study concluded that genetic variants contributed to SUPD in 11% of the 352 cases.
“One of the questions the study leaves us with is what the mechanisms of death actually are. These kids do not appear diseased. They didn’t look like they had seizure disorders or heart problems. We have to find clever ways to model them,” said Dr Richard Goldstein, MD, coauthor of the study, director of Robert’s Program and associate professor of pediatrics at Harvard Medical School, speaking to Biospace.
The DNA samples analysed allowed the geneticists to focus on both previously known and new variants. Dr Hyunyong Koh, MD, PhD, a co-author of the study, added: “First, we can investigate variants in genes known to cause SIDS or SUDC. We can also identify newly generated variants in a child that the parents didn’t carry, or de novo variants. This can be established in our trio approach. We can see how genetic inheritance works in a family.”
Lina Adams






