Neurogenetic analysis of autism spectrum disorder
My research focuses on elucidating the neurogenetic basis of autism. My primary motivation for pursuing this research is my deep fascination with understanding the biological basis of human consciousness, one of the most mysterious and profound topics in science. I first became interested in cognitive neuroscience as a Yale undergraduate taking a year-long computer programming course in artificial intelligence. I was greatly intrigued by human decision-making and how to represent that in lines of code. This led me to pursue a PhD in neuroscience. I was drawn to autism since it affects some of our most human qualities, such as self-awareness, self-reflection, and abstract thought. I believe strongly that understanding the neurobiology of autism will provide essential insights into the biological basis of human consciousness, which intersects with WTI's mission to understand human cognition. A condition as complex as autism must be tackled from as many different angles as possible. Therefore, I have chosen a highly multidisciplinary approach for my projects that includes my genetics expertise. They have purposefully spanned both ends of the biological scale, from gene-level investigations to neuroimaging and eye-tracking analysis to clinical characterization, all within a project. Most recently, my neuroimaging collaborators and I have published results from an imaging-genomics analysis of sex differences in autism. This project provided important insights into typical female social cognition involving the salience and central executive brain networks and how they may contribute to the female protective effect observed in autism. Another major project in my lab focuses on childhood disintegrative disorder (CDD), a late-onset, severe form of regressive autism of unknown etiology. Children with CDD experience significant cognitive decline. Our genetic/fMRI/eye-tracking study revealed a distinct neurobiology from other forms of autism, including the possible preservation of neural circuits involved in eye gaze and attention to social stimuli.
Abha Gupta received her BS degree in Molecular Biophysics and Biochemistry in 1993 from Yale University and MD and PhD (Neuroscience) degrees in 2001 from the University of Pennsylvania. She completed residency training in Pediatrics at the Children's Hospital of Philadelphia (CHOP) and fellowship training in Developmental-Behavioral Pediatrics at CHOP and the Yale School of Medicine. She obtained postdoctoral research training in human genetics at Yale and started her lab here in 2013. She is an avid hiker and aspires to climb Half Dome in Yosemite National Park.