Jasmin Roohi

4th Year Graduate Student

Department: Pathology

Graduate Program: Genetics

Advisor: Dr. Eli Hatchwell

Abstract:

Title: Identification of Candidate Genes in Autism Spectrum Disorder

As defined by the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition (DSM-IV), Autism spectrum disorder (ASD) is a severe developmental disorder of the central nervous system characterized by impairments in 3 behavioral areas: (1) social interaction; (2) verbal and non-verbal communication; and (3) range of interests, activities and patterns of behavior. ASD affects approximately 4 times as many males than females and is divided into 5 DSM-IV subtypes: autistic disorder, Asperger's disorder, disintegrative disorder, pervasive developmental disorder not otherwise specified (PDD-NOS) and Rett disorder. With the exception of Rett disorder, diagnosis and categorization into each subtype is made only on clinical grounds. It depends on the age of onset as well as the number of endorsed behavior descriptors and their distribution among the triad of impairments characteristic of autism. Although approximately 10% of autism cases are attributable to a broader disorder such as Fragile X, untreated phenylketouria, Angelman syndrome, or Prader-Willi syndrome, the prevalence of the disorder (as high as 1 in 150 American children) underscores the need to develop reliable neurobiological and genetic markers for idiopathic variants. My research focuses on the identification of genetic copy number variations in ASD patients in hopes of finding possible candidate genes involved in pathogenesis. I use BAC arrays to detect submicroscopic chromosomal deletions or duplications in autistic patients, searching for regions of the genome that may serve as targets for further gene identification. To date we have used this approach to analyze the genomes of 80 clinically characterized ASD patients and are pursuing those regions of variation that are of most interest.

Publications:
(MSTP-supported publications indicated with an *)

*Herbert MR, Russo JP, Yang S, Roohi J, Blaxill M, Kahler SG, Cremer L, Hatchwell E. (2006). Autism and environmental genomics. Neurotoxicology. 5:671-84.