Home Department: Biology
Mentor: Matthew Wheeler (Medicine - Cardiovascular Medicine)

“Transforming Healthcare Delivery in Peripartum Cardiomyopathy through a Deeper Understanding of Genetic Determinants”

Peripartum cardiomyopathy (PPCM) is a rare heart failure syndrome affecting women in the puerperal period and is the number one cause of death in pregnancy-related mortality in California. There is growing evidence that risk for PPCM has a genetic component. The goal of Sara’s research is to find rare genetic variants that may be contributing to PPCM development. Sara is utilizing the Stanford-InterMountain HealthCare PPCM database and she will perform whole exome sequencing of samples from 100 women patients. Rare variants of a pre-specified list of 20 novel genes with a plausible role in PPCM development, as well as their genomic interactome, will be curated for potential pathogenicity and correlated with clinical features and outcomes. Sara aims to optimize health care delivery of PPCM through a genetic-based evaluation tailored to the specific needs of future patients to reduce the high risk of morbidity and mortality in women with PPCM.