Genomics Causes of Unexplained Pregnancy Loss
Dr. Ruth Lathi, Stanford University School of Medicine
Dr. Ruth Lathi, is a reproductive endocrinologist at the Stanford University School of Medicine. She is a Professor in the Department of Obstetrics and Gynecology, Director of the Multi-specialty Recurrent Pregnancy Loss program, and the Program Director of the REI Fellowship. Dr. Lathi has a special interest in treating recurrent pregnancy loss, the role of preimplantation genetic diagnosis in the treatment of reproductive disorders, and the prognostic value and utility of genetic testing of miscarriage tissues, and long-term outcomes of fertility treatments. (Link)
Research Gift
$8,000
Project Description
Chromosomal anomalies have long been a focus of pregnancy loss research. But molecular and evolutionary data have emerged that suggests single-gene changes may contribute a proportion of unexplained pregnancy loss. Investigating the single gene changes that play a role in pregnancy loss can lead to new understanding of biologic pathways that are essential to human development and potentially suggest new avenues for therapeutic interventions.
Unlike chromosomal anomalies, single-gene changes may be inherited. It is likely that couples experiencing loss caused by single-gene changes are genetically heterogenous. Investigating this requires a comprehensive, “hypothesis-free” sequencing approach. Until recently, limitations of sequencing coverage and cost of sequencing have limited this type of study. Even now, the functional impact of genes with evolutionary selective constraint is limited, requiring a gene discovery approach. Dr. Lathi and her team will use their unique expertise in infertility, genomics, bioinformatics, and gene discovery to advance this science.