Genetics of Infertility

Stephanie Seminara of Massachusetts General Hospital in the U.S. will perform large-scale, human genetic studies to identify gene variants that influence fertility for developing novel non-hormonal contraceptives. Globally, many women do not use contraceptives for reasons including negative side effects of hormonal methods, leading to poor method acceptability. This leads to 88 million unintended pregnancies per year globally. To identify drug targets for developing more acceptable contraceptives, they will analyze whole exome sequences and phenotypes from three existing patient populations with rare forms of infertility, such as primary ovarian insufficiency, and one new cohort with unexplained infertility. This will reveal both single nucleotide and structural variants underlying infertility, and subsequently the associated molecular pathways. They will also perform a large-scale genome-wide association study using over 1.8 million samples from multi-ethnic population biobanks to identify common variants associated with reproductive traits, which could also uncover novel genes involved in infertility.