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Study Reveals New Details About Genetics of Major Cause of Female Infertility

New research appearing in Nature Medicine this week has identified pathogenic gene variants associated with premature ovarian insufficiency (POI), shedding new light on the genetics of this major cause of female infertility. POI, characterized by the cessation of ovarian function, affects nearly 4 percent of women under the age of 40. It is highly heterogeneous and can be caused by genetic defects, autoimmune disease, infections, or other factors. Yet a large number of cases are idiopathic, with multiple lines of evidence supporting a genetic basis for pathogenesis, making it important to understand the condition's molecular basis. To that end, a team led by Shandong University researchers performed whole-exome sequencing in 1,030 patients with POI, uncovering hundreds of pathogenic and likely pathogenic variants in nearly a quarter of the patients studied, as well as offering insights into the genetic landscape of the disease. The findings, the scientists write, could have the potential to improve the utility of diagnostic genetic screenings for POI.

The Scan

Harvard Team Report One-Time Base Editing Treatment for Motor Neuron Disease in Mice

A base-editing approach restored SMN levels and improved motor function in a mouse model of spinal muscular atrophy, a new Science paper reports.

International Team Examines History of North American Horses

Genetic and other analyses presented in Science find that horses spread to the northern Rockies and Great Plains by the first half of the 17th century.

New Study Examines Genetic Dominance Within UK Biobank

Researchers analyze instances of genetic dominance within UK Biobank data, as they report in Science.

Cell Signaling Pathway Identified as Metastasis Suppressor

A new study in Nature homes in on the STING pathway as a suppressor of metastasis in a mouse model of lung cancer.