EGL Genetics Blog

Latest Findings in Autism Research

Posted by Eleina Cox on Apr 19, 2017 3:00:00 PM

In 2007, the United Nations designated April 2nd as World Autism Awareness Day. Since 2013, all subcatergories of autism ( i.e. Asperger syndrome and pervasive developmental disorder not otherwise specified) have been placed worldautism.jpg
under an umbrella diagnosis of autism spectrum disorder (ASD). With one in 68 children diagnosed with ASD, autism is a well-known medical condition, and awareness of it has permeated everyday life. In the United States, federal laws such as the Autism CARES Act of 2014, a bipartisan effort signed by President Obama, authorized more funding for research, assistance programs and provided protection for those living with ASD. In pop culture, movies such as Rain Man, have showcased leading characters with autistic features. Two weeks ago, Sesame Street, the American children’s television series, debuted Julia, its first muppet with autism, to the cast. As public awareness continues to grow, the importance of further research to better understand the etiology of autism becomes even more vital.

In recent news, the latest scientific discovery of genetic variants that increase the risk of autism was reported. The MSSNG Research Project, a collaboration between Google and Autism Speaks, has identified 18 candidate genes that may contribute to autism susceptibility and were not previously reported in the literature. To date, MSSNG has sequenced a total of 7,000 genomes. In the MSSNG latest study, in which 5,205 genomes were sequenced, 61 genes that affect autism risk were identified. 59% of the 61 genes are associated with known syndromes and/or phenotypes in the Online Mendelian Inheritance in Man (OMIM). Most of these syndromes and/or phenotypes involve intellectual disability. It is also important to note that over 100 genetic disorders can present with autistic features. The discovery of new genes, genetic disease pathways and mechanisms can help researchers understand the heterogeneity of autism. Ultimately, this project aims to sequence over 10,000 families diagnosed with autism spectrum disorder and then make this data available to researchers to identify and better understand its genetic causes and subtypes.

18 New Autism Susceptibility Genes

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Additional research is still warranted for further classification of the candidate genes, as their functions and roles become more defined. Contributing to the database on the genetic etiology of autism, the MSSNG Research Project has fostered another step towards understanding ASD and those who are diagnosed and living with it. To access more information about the MSSNG project, visit their website at or Autism Speaks


Have questions about the genetic testing for autism spectrum disorder at EGL Genetics? Please join us for a live broadcast. Click the image below for details.New Call-to-action


For a list of autism spectrum disorder panels offered at EGL Genetics, please click here.



Topics: Autism, awareness, Autism Spectrum Disorder, whole genome sequencing, research funding



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