Dr. Adela Rodríguez-Hernández (Dana-Farber Cancer Institute) shares results from a study in Gynecologic Oncology that better characterized cancer patterns among individuals with SMARCA4 gPVs, addressing…

The Gene Scene explores KCNQ1-related long QT Syndrome (LQTS), including autosomal dominant LQTS1, autosomal-recessive LQTS1 (AR-LQTS), and Jervell and Lange-Nielsen syndrome (JLNS)

Dr. Melissa Frey explains the difference between Progeny and the CARE Program in providing patient history, analyzing criteria, and offering genetic testing in an OB-GYN…

The Gene Scene explores the gene-disease validity of MEN1. Pathogenic variants in this gene are known to cause multiple endocrine neoplasia type 1 (MEN1) and…

In this Gene Scene, Margo Gallegos, MS, CGC, discusses FOLR1, its link to cerebral folate transport deficiency, and new FDA statements about treating patients with…

The Gene Scene covers the GLA gene and its association with Fabry disease.