Abha R Gupta, MD, PhD

Associate Research Scientist in Pediatrics (General Pediatrics) and in the Child Study Center

Research Interests

Autism Spectrum Disorders; Human genetics; Copy number variation; Neuroscience; Synaptic biology

Research Summary

Abha Gupta is interested in the genetic basis of autism spectrum disorders (ASDs).

Extensive Research Description

Abha Gupta is investigating the genetic basis of autism spectrum disorders (ASDs)in the laboratory of Matthew State, MD, PhD. She is using a variety of approaches to identify disease genes. She is performing homozygosity mapping and linkage analysis in a unique population of individuals who have ASD and are the children of consanguineous unions. The goal is to detect common chromosomal loci which confer susceptibility to the disorder. In another project, she is studying a number of patients who have ASD and chromosomal abnormalities using fluorescence in situ hybridization (FISH) to define the chromosomal breakpoints and locate candidate genes. She has identified candidate genes in three patients and is currently screening them for sequence variation in the larger patient population using next-generation sequencing technologies.

Selected Publications

  • Bakkaloglu B, O’Roak BJ, Louvi A, Gupta AR, Abelson JF, Morgan TM, Chawarska K, Klin A, Ercan-Sencicek AG, Stillman AA, Tanriover G, Abrahams BS, Duvall JA, Robbins EM, Geschwind DH, Biederer T, Gunel M, Lifton RP, and State MW. (2008) “Molecular cytogenetic analysis and resequencing of Contactin Associated Protein-Like 2 in Autism Spectrum Disorder,” American Journal of Human Genetics 82: 165-173.
  • Volkmar 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.
  • Gupta AR and State MW. (2007) “Recent Advances in the Genetics of Autism,” Biological Psychiatry 61(4): 429-437.
  • Gupta AR and State MW. (2006) “Autism: genetics,” Brazilian Journal of Psychiatry 28: S29-38.

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