Byrne, Liam

Project title: Development of droplet digital PCR for detection of common N370S mutations

Department: Biology

Faculty supervisor: Dr. Francis Choy

"Gaucher disease (GD) results in progressive neurodegeneration and premature death in the most severe form. Current approaches for fetal diagnosis of GD include amniocentesis/chorionic villus sampling  which are invasive and increase the risk of spontaneous abortion. Recently, a sensitive screening technique called droplet digital PCR (ddPCR) has allowed for minute fetal blood detection within circulating maternal blood. Through a mother’s blood draw, fetal genetic disease can be detected without increasing risk to the fetus. We hypothesize that common GD mutations  p.N370S and p.L444P can be detected when present as <5% of a total DNA sample using ddPCR, recapitulating detection thresholds required for fetal genetic diagnosis in circulating maternal blood. If successful, non-invasive prenatal testing of maternal blood could be offered for mothers who are heterozygous carriers for GD or are from at-risk populations, such as Ashkenazi Jewish."