Abha Gupta is an assistant professor in the Department of Pediatrics and the Child Study Center at the Yale School of Medicine. Her clinical expertise is in developmental-behavioral pediatrics, with a specific interest in autism spectrum disorder (ASD). She has extensive experience in the clinical evaluation of children with developmental disabilities and is the director and attending physician of the autism diagnostic clinic in the Department of Pediatrics. Her research background is in neuroscience (Ph.D.) and the genetics of complex disorders (postdoctoral training). Her career goal is to bridge the fields of human genetics and neuroscience to elucidate the pathophysiology of ASD.
Gupta has built a research program to create cellular models of autism-associated mutations by reprogramming human lymphocytes into induced pluripotent stem cells, which are subsequently differentiated into neural progenitor cells and neural cells. She continues to work closely with long-time collaborators to conduct imaging-genomics studies in ASD, including the investigation of sex differences in ASD and of childhood disintegrative disorder (CDD), a rare form of late-onset, severe, regressive autism. She led a team that published the first neurogenetic analysis of CDD encompassing expert clinical characterization, identification of candidate genes and gene expression analysis, analysis of brain function via non-sedated functional magnetic resonance imaging in subjects with ASD and significant intellectual disability, and precise quantification of the social behavioral phenotype using eye tracking. (Gupta et al., Mol. Autism, 2017) CDD has important differences as well as similarities to other forms of ASD that may offer insights into the neurobiology of regression in autism.