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Developmental Synaptopathies Consortium

Headshot of Siddharth Srivastava, MD
Early Stage Investigator Spotlight: Siddharth Srivastava Investigates Genetic Causes of Neurodevelopmental Disorders
April 21, 2022

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.

Early-Stage Investigator Spotlight
DSC
Developmental Synaptopathies Consortium
Phelan-McDermid syndrome
Tuberous Sclerosis Complex
PTEN hamartoma tumor syndrome
Developmental Synaptopathies Consortium logo
Consortium Spotlight: Advancing Discoveries in Neurodevelopmental Disorders
April 14, 2022

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 manager Rajna Filip-Dhima, MS, and principal investigator Mustafa Sahin, MD, PhD, share the history of the consortium, current research, and future plans. 

Consortium Spotlight
DSC
Developmental Synaptopathies Consortium
Tuberous Sclerosis Complex
Phelan-McDermid syndrome
PTEN hamartoma tumor syndrome
Headshot of Andrew Dhawan, MD, DPhil
DSC Announces First-Ever PTEN Research Young Investigator Award
October 22, 2021

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. 

Developmental Synaptopathies Consortium
DSC
Young Investigator Award
PTEN hamartoma tumor syndrome
PHTS
Felix Chan, PhD of Brown University
Brown University’s Felix Chan Wins Young Investigator Award from Developmental Synaptopathies Consortium
May 19, 2021

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.

Developmental Synaptopathies Consortium
DSC
Tuberous Sclerosis Complex
TSC
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The Rare Diseases Clinical Research Network (RDCRN) is funded by the National Institutes of Health (NIH) and led by the National Center for Advancing Translational Sciences (NCATS) through its Division of Rare Diseases Research Innovation (DRDRI). The RDCRN websites are hosted by the network’s Data Management and Coordinating Center at Cincinnati Children’s Hospital Medical Center, which is funded by NCATS and the National Institute of Neurological Disorders and Stroke (NINDS) under grant number TR002818.