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.

In the third blog in this series, Dr. Suzanne Goh discusses the Cortica Care model, genetic testing, and the future of autism care.

The Gene Scene covers ACTA2. Pathogenic alterations in this gene have been associated with ACTA2-related vascular disorders, including familial thoracic aortic aneurysms and dissections (TAAD)…

Dr. Suzanne Goh discusses the Cortica Care model for autism, the importance of genetic testing for giving a diagnosis to guide care.

In this week’s Gene Scene, Grant Bonesteele, MS, CGC, spotlights COL3A1and its association with Ehlers-Danlos Syndrome and Multiple Congenital Anomalies Syndrome.