The PROS Umbrella and M-CM / MCAP Webinar - August 26th, 2025 скачать в хорошем качестве

The PROS Umbrella and M-CM / MCAP Webinar - August 26th, 2025

Dr. Rossana Sanchez Russo and Janette diMonda, MMSc, CGC discuss the PROS (PIK3CA-Related Overgrowth Spectrum) and explain how M-CM / MCAP falls beneath that umbrella. They will also discuss the challenges of genetic testing in this population and how to interpret genetic testing results followed by a Q & A presentation of webinar participants. Dr. Rossana Sanchez Russo's emphasis on early identification and research-driven management of genetic diseases has guided her clinical and academic career. As a pediatric and metabolic geneticist at Emory University, she lead genetics care for the Vascular Anomalies Clinic (VAC) at Children’s Healthcare of Atlanta alongside Janette diMonda, CGC. They collaborate weekly with a multidisciplinary team to guide molecular testing and diagnosis. Since their involvement, genetic evaluations and molecular diagnoses in patients with vascular anomalies have grown significantly, enabling personalized care and expanding treatment options. Dr. Rossana Sanchez Russo serves as Co-PI for their site in the CaNVAS Consortium. In partnership with Emory, Georgia Tech, and Children's Hospital of Philadelphia, she's advancing research on cfDNA, gene expression, and organoid models in vascular malformations. These efforts are supported by the CTSA 2021 Team Science Award. Dr. Rossana Sanchez Russo also directs genetics residency training and contributes to major rare disease research and education initiatives. Janette diMonda, MMSc, CGC is a Licensed Clinical Genetic Counselor in the Division of Medical Genetics at Emory University School of Medicine. She specializes in seeing patients with vascular anomalies, including MCAP. She currently conducting research on the diagnostic yield of genetic testing in these conditions and is passionate about improving access to genetic testing for affected individuals and their families.