Abha R Gupta, MD, PhD
Associate Research Scientist in Pediatrics (General Pediatrics) and in the Child Study Center
Autism Spectrum Disorders; Human genetics; Copy number variation; Neuroscience; Synaptic biology
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.