Gupta Lab

Overview

The Gupta Lab is investigating the genetic basis and neurobiology of ASD and rare neurogenetic syndromes. The lab is especially interested in regression in autism and is collaborating with other research groups at the Child Study Center to study late-onset, severe regressive autism known as Childhood Disintegrative Disorder (CDD). This project is an intense, multimodal investigation encompassing clinical characterization, whole-genome sequencing, fMRI, and eye-tracking analyses. 

Another major project is to create stem cell models of autism-associated genetic mutations through the use of induced pluripotent stem cells (iPSCs) and CRISPR/Cas9 genome editing. We transform patient blood cells into an immature stem cell form, which are then developed into neural cells. The goal is to use these “brain cells in a dish” to understand how mutations cause dysfunction at the cellular and molecular levels and contribute to the development of ASD. The ultimate goal is to identify new targets for pharmacological treatment.

The Gupta Lab is led by Dr. Abha Gupta, Assistant Professor of Pediatrics and the Child Study Center.

Participant Eligibility/Benefits

  • Individuals with ASD, CDD, or rare neurogenetic syndromes
  • Family willing to contribute a blood or saliva sample (parents as well)

Research Interest

Genetics and neurobiology of autism spectrum disorder (ASD) and rare neurogenetic syndromes

IRB Study Title

Genetic and molecular studies of developmental neuropsychiatric disorders associated with cognitive and behavioral 
impairment (HIC# 0301024156)

Contact Information

Abha R. Gupta, MD, PhD

Emailabha.gupta@yale.edu

Phone: 203-785-6066