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Abha Gupta, MD, PhD

Assistant Professor of Pediatrics (General Pediatrics)

Research Summary

Abha Gupta is interested in the genetic basis and neurobiology of autism spectrum disorder (ASD).

Extensive Research Description

Abha Gupta is investigating the genetic basis and neurobiology of autism spectrum disorder (ASD). She is especially interested in regression in autism and is collaborating with research groups at the Child Study Center on an imaging genomics project on late-onset, severe regressive autism, also known as Childhood Disintegrative Disorder (CDD). Her laboratory is also pursuing stem cells modeling of autism-associated genetic mutations through the use of induced pluripotent stem cells (iPSCs) and genome editing.

Coauthors

Research Interests

Autistic Disorder; Brain Diseases; Child Development Disorders, Pervasive; Neurobiology; Rare Diseases; Genetic Research; Pluripotent Stem Cells

Selected Publications

  • Medical issues associated with ASDVolkmar FR, Westphal A, Gupta AR, Wiesner L. (2008) “Medical issues associated with ASD” in Chawarska K, Klin A, Volkmar F (eds) Autism Spectrum Disorders in Infants and Toddlers: Diagnosis, Assessment and Treatment. New York: Guilford Press.
  • Disruptive de novo point mutations, revealed by whole-exome sequencing, are strongly associated with autism spectrum disorders.Sanders SJ, Murtha M, Gupta AR, Murdoch JD, Raubeson MJ, Willsey AJ, Ercan-Sencicek AG, DiLullo NM, Parikshak NN, Stein JL, Walker MF, Ober GT, Teran NA, Song Y, El-Fishawy P, Murtha R, Choi M, Overton JD, Bjornson RD, Carrierio NJ, Meyer KA, Bilguvar K, Mane SM, Sestan N, Lifton RP, Gunel M, Roeder K, Geschwind DH, Devlin B, State MW. (2012) Disruptive de novo point mutations, revealed by whole-exome sequencing, are strongly associated with autism spectrum disorders, Nature 485(7397): 237-241.

Clinical Trials

ConditionsStudy Title
Children's Health; Men's Health; Mental Health & Behavioral Research; Women's HealthACE Multisite Study of Adolescent & Adult Transitions
Child Development & AutismSPARK: Simons Foundation Powering Autism Research for Knowledge, a national cohort of individuals and families affected by Autism Spectrum Disorder
Child Development & Autism; Diseases of the Nervous System; Genetics - Adult; Genetics - Pediatric; Mental Health & Behavioral ResearchGenetic and molecular studies of developmental neuropsychiatric disorders
Diseases of the Cardiovascular SystemGenomic Basis of Neurodevelopmental and Brain Outcomes in Congenital Heart Disease (CHD Brain and Genes)
Diseases of the Cardiovascular System; Genetics - Adult; Genetics - PediatricCongenital Heart Disease GEnetic NEtwork Study (CHD GENES)