How many babies die from genetic diseases because they’re not tested? Too many, researchers say

Genetic diseases kill more infants than anyone realizes. That’s the central conclusion of a new study from the Rady Institute for Genomic Medicine in San Diego. The paper, published online Thursday, uses whole-genome genetic sequencing to examine the circumstances of 112 San Diego County babies who died from 2015 through 2020. Researchers found evidence of “single locus” gene mutations in 46 babies that are linked to fatal conditions such as polycystic kidney disease, CHARGE syndrome and trisomy 21. Examining each child’s medical history and searching medical literature, they found that there …

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