Abha Gupta, MD, PhD

Assistant Professor of Pediatrics (General Pediatrics)

Research Departments & Organizations

Pediatrics: General Pediatrics

Child Study Center

Yale Stem Cell Center

Research Interests

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

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.

Clinical Trials

Conditions Study Title
Diseases of the Cardiovascular System Genomic Basis of Neurodevelopmental and Brain Outcomes in Congenital Heart Disease (CHD Brain and Genes)
Child Development & Autism A Study to Investigate the Efficacy and Safety of RO5285119 in Participants With Autism Spectrum Disorder (ASD)
Diseases of the Cardiovascular System, Genetics - Adult, Genetics - Pediatric Congenital Heart Disease GEnetic NEtwork Study (CHD GENES)

Activities

  • The Genetics of Autism Spectrum Disorders United States (2014 - 2014)

Selected Publications

  • Rare deleterious mutations of the gene EFR3A in autism spectrum disorders.

    Gupta AR, Pirruccello M, Cheng F, Kang HJ, Fernandez TV, Baskin JM, Choi M, Liu L, Ercan-Sencicek AG, Murdoch JD, Klei L, Neale BM, Franjic D, Daly MJ, Lifton RP, De Camilli P, Zhao H, Sestan N, State MW. Rare deleterious mutations of the gene EFR3A in autism spectrum disorders. Molecular Autism 2014, 5:31. 2014

  • 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.

  • Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy.

    Novarino G, El-Fishawy P, Kayserili H, Meguid NA, Scott EM, Schroth J, Silhavy JL, Kara M, Khalil RO, Ben-Omran T, Ercan-Sencicek AG, Hashish AF, Sanders SJ, Gupta AR, Hashem HS, Matern D, Gabriel S, Sweetman L, Rahimi Y, Harris RA, State MW, Gleeson JG. Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy. Science (New York, N.Y.) 2012, 338:394-7. 2012

  • Medical issues associated with ASD

    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. 2008

  • Recent advances in the genetics of autism.

    Gupta AR, State MW. Recent advances in the genetics of autism. Biological Psychiatry 2007, 61:429-37. 2007

  • [Autism: genetics].

    Gupta AR, State MW. [Autism: genetics]. Revista Brasileira De Psiquiatria (São Paulo, Brazil : 1999) 2006, 28 Suppl 1:S29-38. 2006

  • Neurogenetic analysis of childhood disintegrative disorder.

    Gupta AR, Westphal A, Yang DYJ, Sullivan CAW, Eilbott J, Zaidi S, Voos A, Vander Wyk BC, Ventola P, Waqar Z, Fernandez TV, Ercan-Sencicek AG, Walker MF, Choi M, Schneider A, Hedderly T, Baird G, Friedman H, Cordeaux C, Ristow A, Shic F, Volkmar FR, Pelphrey KA. Neurogenetic analysis of childhood disintegrative disorder. Molecular Autism 2017, 8:19. 2017

See list of PubMed publications

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