Research led by the Murdoch Children’s Research Institute (MCRI) has reported that their novel newborn genetic screen may be feasible and reliable to test for three rare genetic disorders simultaneously. The research, led by Professor David Godler from the MCRI, developed a method to screen for Prader Willi, Angelman and Dup15 simultaneously from a sample taken through the commonly used ‘heel prick’ test. The study, published in the Journal of the American Medical Association (JAMA) Network Open, reported that the team’s novel test might pave the way for the three chromosome 15 imprinting disorders to be added to the newborn bloodspot screening programs (heel prick test) for the first time. The mechanism of the test was based on a screening method called Methylation Specific-Quantitative Melt Analysis (MS-QMA), with many of its publications associated with its uses as a diagnostic tool for Fragile X. Imprinting disorders can be caused by epigenetic …
Novel Newborn Genetic Screen Possible for Earlier Diagnosis and Treatment
January 24, 2022
admin
American Medical AssociationAustraliagenetic disordergenetic testinginfantmedical researchmedical testsnewborn babyvictoriaWorld
0 Comment