Connolly Steigerwald, MS, CGC, joins us in the Gene Scene to explore TGFBR2-related Loeys-Dietz syndrome.

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…