Kristin Anthony is president and founder of the PTEN Hamartoma Tumor Syndrome Foundation, a patient advocacy group of the Developmental Synaptopathies Consortium (DSC) that aims to find treatments or a cure for PTEN hamartoma tumor syndrome (PHTS). She is also the new chair of the Rare Diseases Clinical Research Network (RDCRN)’s Coalition of Patient Advocacy Groups (CPAG). Here, she shares her start in rare disease advocacy, exciting work with the PTEN Foundation and DSC, and goals as the CPAG chair.
Siddharth Srivastava, MD, is a pediatric neurologist at Boston Children's Hospital specializing in neurogenetics. He is also a member of the Developmental Synaptopathies Consortium (DSC). Dr. Srivastava’s research focuses on neurodevelopmental phenotyping and biomarker discovery in Phelan-McDermid syndrome (PMS), tuberous sclerosis complex (TSC), and PTEN hamartoma tumor syndrome (PHTS). Here, he shares his start in rare disease research, exciting discoveries, and future goals.
The Developmental Synaptopathies Consortium (DSC) and PTEN Research Foundation are announcing the selection of their first-ever Young Investigator Award for PTEN hamartoma tumor syndrome (PHTS) research.
The Rare Diseases Clinical Research Network’s Developmental Synaptopathies Consortium (DSC) has named Felix Chan, PhD, as the winner of its first-ever TSC Alliance Young Investigator Award for research in tuberous sclerosis complex. Chan is a post-doctoral fellow in the laboratory of Judy Liu, MD, PhD in the Department of Molecular, Cellular Biology and Biochemistry at Brown University.