The human genome, comprised of 3 billion DNA nucleotides, with only 1.5 percent encoding proteins, has led scientists to focus on the exome, which contains the protein-coding regions known as exons. Exome sequencing, while not yet as affordable as sequencing the entire genome, is becoming increasingly utilized for identifying rare mutations associated with traits and diseases, complementing traditional approaches like GWAS, with potential for broader application as sequencing costs decrease.
Artificial Intelligence (AI) empowers scientists to swiftly and accurately analyze extensive datasets, facilitating the identification of genetic mutations for personalized medicine and targeted treatments.
USC geneticist Dr. Marlena Fejzo, who earned international acclaim for identifying the cause of morning sickness and hyperemesis gravidarum (HG), is one of Time magazine’s 2024 “Women of the Year.” She was named along with notable women including, but not limited to, Greta Gerwig, Nobel Laureate Claudia Goldin, Chanel CEO Leena Nair, Yael Admi, a co-founder and leader of the Israeli movement Women Wage Peace together with Reem Hajajreh, the founder and director Palestinian organization Women of the Sun and other influential women.
The recognition follows Fejzo’s recent study, published in Nature, which showed that a mother’s sensitivity to a hormone produced by the fetus triggers nausea and vomiting during pregnancy. While about 80% of pregnant women experience morning sickness, another 2% develop a severe version called hyperemesis gravidarum (HG), which can cause dehydration, weight loss, electrolyte imbalances, and hospitalization. Whole-exome sequencing (WES) plays a crucial role in the research led by Fejzo in 2022 by contributing to the identification of genetic variants associated with HG and further elucidating the underlying mechanisms of the condition. This study confirms the GWAS finding that GDF15 is the greatest genetic risk factor for HG. The new variants identified may have implications for prediction and diagnosis. The findings provide insight into the cause, and molecular mechanisms for developing therapeutics for HG.
These new technologies hold promise in enabling personalized medicine and targeted treatments tailored to specific genetic profiles, contributing to FemTech initiatives aimed at matching capital and talent to improve healthcare outcomes for women.
Watch a Lightning Talk by Dr. Fejzo presenting her quest to find the cause of severe HG