June, 2023
BabySeq Project unearths actionable genetic variants impacting infants, parents
An article published by GenomeWeb on June 6, 2023, describes the implications for recent discoveries by the BabySeq project. The findings suggest that unexpected, medicallyactionable variants in monogenic disease genes found by newborn genome screening can have clinicalimplications for both infants and their family members.
Dr. Alan Beggs is the Sir Edwin and Lady Manton Professor of Pediatrics, Harvard Medical School; Director, The Manton Center for Orphan Disease Research, and IDDRC Co-Core Director, Genetics Analysis and Editing Core