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.
The one-year partnership will focus on identifying patients with abnormal pain conditions and validating the genetic findings as potential targets for drugs.
Exome or targeted sequencing on members of families affected by Carey-Fineman-Ziter syndrome led to mutations in the MYMK gene that impact muscle cell fusion.
The Associated Press reports that an ethicist predicts that prenatal diagnosis and other advances will lead to more choices being available to prospective parents.
