PWSA Blog

JAMA Newborn Screening Article: Feasible to Screen for all Chromosome 15 Imprinting Disorders, Including PWS, Using SNRPN Methylation Analysis

Dr. Merlin Butler, who has made a tremendous impact on the PWS community, specifically with his research work studying the genetics of PWS, recently shared a new article with PWSA | USA regarding the JAMA Newborn Screening study. The objective of the study was "to examine the feasibility of newborn screening for these chromosome 15 imprinting disorders at population scale." According to the article, "the findings of this study suggest that it is feasible to screen for all chromosome 15 imprinting disorders using SNRPN methylation analysis."

Read the full article here or by clicking the button below.

Share this!

Scroll to top