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) is a network of experts studying three rare genetic syndromes—tuberous sclerosis complex (TSC), Phelan-McDermid syndrome (PMS), and PTEN hamartoma tumor syndrome (PHTS)—that often cause autism spectrum disorder and intellectual disability. Here, program managerRajna Filip-Dhima, MS, and principal investigator Mustafa Sahin, MD, PhD, share the history of the consortium, current research, and future plans.
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.
