Researcher profile: Siddharth Srivastava, M.D.

Siddharth Srivastava, M.D., is a pediatric neurologist at Boston Children’s Hospital and specializes in neurogenetics. His research involves studying different genetic causes of neurodevelopmental presentations, such as autism, intellectual disability, cerebral palsy, and developmental regression. His group uses several approaches, including gene discovery, cognitive and behavioral phenotyping, and biomarker identification. At Boston Children’s Hospital, he provides care to children in a variety of neurodevelopmental and neurogenetics clinics. He received his B.A. degree in biochemistry from Columbia University and his M.D. degree from Johns Hopkins University School of Medicine. He finished a combined residency in pediatrics and neurodevelopmental disabilities at Johns Hopkins Hospital and the Kennedy Krieger Institute. He completed a fellowship in neurogenetics at Boston Children’s Hospital.

We interviewed Dr. Srivastava about his research:

How did you first start collaborating with Simons Searchlight research?

I first became involved with Simons Searchlight by seeing individuals who have HIVEP2 disorder and SETBP1 disorder. Changes in the HIVEP2 and SETBP1 genes have been linked to autism and intellectual disability. The families of these individuals have done an incredible job gaining traction in terms of research, education, and advocacy, connecting with Dr. Wendy Chung who has cemented their place within the Simons Searchlight research community. My involvement with these disorders, coupled with Chung’s work, allowed me to start collaborating with Simons Searchlight, specifically with neurodevelopmental phenotyping.

How have you and your team used information collected from Simons Searchlight families in your projects? 

Using the Simons Searchlight data, we first identified different groups of disorders that are linked to genes that have similar functions. For example, the genes CSNK2A1, HIVEP2, MED13L, and SETBP1 play an important role in the activation of genes. The genes GRIN2B, SCN2A, STXBP1, and SYNGAP1 play an important role in the communication between neurons. We then compared the neurodevelopmental profile of one group of disorders to another. Studying neurodevelopmental profiles this way can shed insight into how different genetic changes may lead to final common pathways of autism and intellectual disability.

What type of data did your team use, and was it associated with a specific gene change?

Our team used neurobehavioral data associated with specific genetic disorders studied within Simons Searchlight.

Have you requested any biospecimens from the registry’s collection to use in your research and how have these samples been utilized?

We have not yet used biospecimens, but that is an area we are actively exploring.

How has using Simons Searchlight data aided in our understanding of the gene changes associated with autism and developmental delay?

Depending on the genetic change, certain genetic conditions can lead to more severe autism and intellectual disability. Various factors may affect the level of severity, including the presence of seizures.

From a researcher’s perspective, how important is it for families that have rare genetic disorders to become involved in a registry study? 

I think it is very important for families of individuals with rare genetic disorders to become involved in registry studies. Before doing research to find treatments and interventions, we must first determine important outcome measures. A huge part of this comes with understanding the natural history of a disorder, which is exactly the role that Simons Searchlight is filling for many rare genetic disorders that are associated with autism and intellectual disability.

What are your future plans for collaborating with Simons Searchlight or using Simons Searchlight data?

Simons Searchlight has a wealth of available data, including neuroimaging, which we are planning to use in more in-depth research analyses.