A small but significant proportion of autism spectrum disorder cases — particularly those occurring in females — appeared to involve biallelic loss-of function or missense mutations.
Researchers brought together blood transcriptomic, metabolomic, proteomic, and immune cell profiles for dozens of West African and Australasian infants.
BabySeq Project researchers reported that genomic sequencing could find even healthy newborns who are at risk of developing childhood-onset conditions.
Two thirds of families who attended enrollment sessions signed up, but those who did not voiced concerns about privacy, discrimination, and return of results.
The SCN3A gene, which encodes a voltage-gate sodium channel in the brain, also controls oral motor development, including swallowing, tongue movement, and speech.
Under a collaboration with GeneDx, Boston Children's has rapidly sequenced the exomes of 20 NICU babies and have arrived at a likely diagnosis in around 85 percent.
At the ACMG meeting, Cynthia Morton said that several projects, including her team’s SEQaBOO study, are exploring the utility of genomic testing in newborn hearing screening.
Research teams documented mosaic mutations during brain development, as well as rising somatic mutations in aging brains or brains affected by neurodegenerative disease.
