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Autism was once considered a rare condition. Not that long ago, just 1 in 2,500 children were diagnosed with autism. The rate of autism has increased dramatically since the 1990s. In 2018, the Centers for Disease Control (CDC) estimated that 1 in 59 children are diagnosed with Autism Spectrum Disorder (ASD). Once irreversible, thanks to autism research, a range of therapies and interventions now exist to help improve the lives of children and adults with ASD.
The Greenwood Genetic Center started the South Carolina Autism Project in 1995. The project was supported by a three-year grant from the South Carolina Department of Disabilities and Special Needs. When it began, 187 families with a child with autism enrolled in the study. That work has evolved into the GGC’s current autism research program and continues today. GGC remains grateful to those original 187 families as they created the core of our important autism research program.
Since our work began, GGC’s research has identified alterations in Neurexin 1a and Neurexin 1b and NLGN4 as being associated with Autism Spectrum Disorder (ASD). The SLC9A6 and PTCHD1 genes have also found to be responsible for X-linked syndromes in which autism plays a major role. Autism is also prevalent in patients with Phelan-McDermid syndrome, caused by a deletion at chromosome 22q13, which was discovered at GGC.
Research conducted through the SC Autism Project identified several cytogenetic and single gene associations with ASD. These genetic associations explain the features of ASD in some patients; however, an etiology or cause remains unknown in approximately 80% of patients with an ASD.
All conducted research must be extensive because the diagnosis of autism represents a broad spectrum of disorders. Current diagnostic testing for ASD includes molecular methods such as GGC’s 83-gene Autism Panel, cytogenetic assays including chromosome analysis and microarray, and metabolic screening and testing.
GGC’s current autism research program is focusing on two major goals:
GGC also works closely with Project HOPE Foundation through the Helix & Hope collaborative to advance autism research and services.
Want to get involved? GGC is currently seeking families with a child under 18 months of age for a prospective study on childhood development to assist with the development of a screening test for autism. Contact Heather Davis, RN, for more information.