Diagnosis of autism spectrum disorders associated with novel gene mutations
Inventors: Christopher Walsh, Ganeshwaren Mochida, Timothy Yu, Maria Chahrour
Invention Types: Diagnostic/Prognostic
Research Areas: Genetic Disease, Neurology/Neuroscience
Keywords: Autism, GenomicsFor More Information Contact: Yen, Alan
Autism is a spectrum of neurodevelopmental disorders (referred to as autism spectrum disorder, ASD) affecting around 1 in 88 individuals. Studies have suggested that autism spectrum disorders are significantly heritable, yet elucidating the genetic basis of ASDs remains a challenge.
Researchers in the lab of Christopher Walsh have used whole-exome sequencing (WES) to identify mutations in a cohort of consanguineous and/or multiplex families with ASD. They show that many of the discovered mutations represent partial loss of function in genes where null mutations cause distinctive Mendelian disorders.
By focusing on families and samples enriched for recessive inheritance, the researchers identified several genes (AMT, PEX7, and VPS13B/COH1, SYNE1, PAH, HIST3H3, POMGNT1) that are likely to cause autism when mutated. These included several genes known to be associated with syndromic medical conditions, but which had not been previously associated with autism. Based on this research, Dr. Walsh's lab is developing a screening test based on mutations found in this study.
• Whole Genome Sequencing platform to identify specific genetic causes underlying ASDs.
• Screening tests for the novel mutations that cause some autism spectrum disorders and/or intellectual disability.
• Novel treatment consisting of histone modulating agent for the individual with a mutation in the HIST3H3 gene.
• Screening for various mutations discovered in this study will allow accelerated diagnosis of children with intellectual disability or autism spectrum disorder, and enable early intervention and treatment.
• Such diagnosis could lead to clinical treatment options (such as chromatin modifying agents) that are already in use or in clinical trials.
Non-exclusive License or Sponsored Research Opportunity
Key Publications: Neuron 77, 259â€“273, January 23, 2013
IPStatus: Pat. Pend.