Autism is a condition with increasing prevalence and multiple potential causes. In 1995, supported by a three-year grant from the South Carolina Department of Disabilities and Special Needs, the Greenwood Genetic Center initiated the SC Autism Project. At that time we enrolled into the study 187 families who have a child with autism. These families created the core of the Center's autism research, and GGC is grateful for their support and participation.
GGC's autism work has identified alterations in NLGN4, Neurexin 1a and Neurexin 1b as being associated with ASD, as well as SLC9A6 and PTCHD1 as being responsible for X-linked syndromes in which autism is a major component. The Center's researchers and clinicians also have a strong interest in Phelan-McDermid syndrome, caused by a deletion at chromosome 22q13, which includes autism as a primary feature. Through our research protocols, we have identified many cytogenetic and single gene associations which may help to explain the diagnosis in some patients. The Diagnostic Laboratory also offers a next generation sequencing panel for syndromic autism.
Current autism research through GGC's JC Self Research Institute is focused on identifying potential causes of autism spectrum disorders (ASDs) with the hope and expectation of better understanding the genetic and biochemical mechanisms involved. Ultimately, the goal of this understanding is to identify an early diagnostic test and effective therapies to prevent or treat the features of ASDs. Our current project involves a thorough approach for study participants including standard genetic testing (chromosome analysis, selected single gene testing, biochemical studies and microarray) along with newer approaches of whole exome sequencing, methylation array and tryptophan metabolism studies.
Utilizing a metabolic platform developed by Biolog Inc. (Hayward, CA) we discovered that that cells from patients with ASDs fail to utilize tryptophan as efficiently as controls. This work led to metabolomics work which has shown promise in being able to distinguish individuals with autism from typically developing children via a blood sample at an early age. Studies are ongoing to validate this screening test as well as to better characterize how defects in tryptophan and other metabolic pathways influence the occurrence of ASDs.
GGC's autism work is supported through grants and philanthropic gifts from:
Believe in Me Foundation
Bill and Connie Timmons Foundation
Blue Cross Blue Shield Foundation of SC
SC Department of Disabilites and Special Needs
Self Family Foundation
Self Regional Healthcare
Other anonymous donors
Autism Program Update - October 2015
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