CHICAGO, Feb. 28, 2017 /PRNewswire/ -- Today is National Rare Disease Day and researchers at Rush University Medical Center are working to unlock the mysteries of a condition called Phelan-McDermid Syndrome, a rare chromosomal disorder often associated with the deletion or mutation of the Shank3 gene and autism spectrum disorder. Shank3 is a critical gene involved in coding how brain cells connect and communicate. It plays a critical role in neurological functioning.
Shank3 deficiency, which leads to Phelan-McDermid Syndrome, has been identified in approximately one percent of individuals with autism spectrum disorder (ASD) and approximately 1,300 cases have been identified worldwide. Most patients are characterized by a low IQ, motor skills deficits and delayed or absent speech.
Rush researchers are studying this condition as part of the National Institutes of Health funded Rare Diseases Clinical Research Network's Developmental Synaptopathies Consortium which is composed of a group of 11 medical centers studying three rare genetic syndromes that often cause autism spectrum disorder and intellectual disability. The study's purpose is to characterize and track Phelan-McDermid Syndrome and identify genetic factors which contribute to the syndrome and related conditions such as autism spectrum disorder.
"Our objective is to fully define Phelan-McDermid Syndrome using standardized medical, cognitive, and behavioral measures. Additionally, we are looking at how it develops and progresses over time, as well as identifying genetic factors which contribute to the many different symptoms that individuals with this condition experience," explains Latha Soorya, PhD, Rush University Medical Center.
"Once we establish the characteristics and path of Phelan-McDermid syndrome, we can better understand changes that might occur in patients during trials of new medications targeted to the brain, which is affected by the disease," she said.
In addition to Rush, this study is taking place at the National Institutes of Health, Boston Children's Hospital, Cincinnati Children's Hospital Medical Center, Cleveland Clinic, Icahn School of Medicine at Mount Sinai Hospital in New York, Stanford University in Palo Alto, California, University of Alabama at Birmingham, University of California at Los Angeles, University of Texas at Heath Science Center at Houston and University of Texas Southwestern Medical Center.
Soorya, a clinical psychologist at the Autism Assessment Research Treatment Services (AARTS) center at Rush, is an investigator for this five-year study with Dr. Elizabeth Berry-Kravis, MD, PhD, pediatric neurologist and Professor of Pediatrics, Neurological Sciences and Biochemistry at Rush.
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SOURCE Autism Program at Rush University Medical Center