Scientists Discover Genetic Mutations that May Lead to Autism

Recent research has allowed scientists to determine which genetic mutations may cause Autism, which will allow them to predict Autism in children at earlier ages. Scientists at the Hospital for Sick Children’s Centre for Applied Genomics have created a formula which will determine which mutations may lead to Autism development.

Researchers have been studying the possible causes of Autism for many years, but no direct cause has ever been identified. However, genome research has been incredibly valuable in dissolving some of the mysteries of Autism, allowing scientists to identify over a hundred altered genes that are associated with Autism Spectrum Disorders (ASD). Although this research has been beneficial, there have still been difficulties in discovering a direct link. Dr. Stephen Scherer, who led the study, stated, “There are no common patterns”, meaning that one person with ASD will carry mutations totally different from the next.

Recently, scientists studied a different part of the genome than they had studied previously, creating a formula for determining which mutations are likely to lead to Autism, and which are not. In this process, they also identified over 1,600 genes that were previously not linked to Autism that may now hold clues for discovering what may cause the disorder.

Dr. Scherer and his team examined exons, small segments of DNA that are protein-coding. The team discovered that when they compared mutations in exons of those that have ASD with those who do not, rather than comparing the whole genome, they came up with a more advanced way of predicting ASD. The formula found 3,995 exons within 1,744 genes. Dr. Scherer stated, “What we think we’ve found in these 1,744 genes that have these characteristics is a set of genes involved with human cognition.” This advance will help researchers narrow their focus as they search for more genetic causes of the disorder.

Kathryn Roeder, statistical geneticist at Carnegie Mellon University called the research “a tremendous step forward”, and that it will “erase a lot of noise”. The formula will allow clinicians to help diagnose ASD much earlier, which will allow the child to receive the best treatment and care as soon as possible. The research collected also backs up the theory that Autism begins to develop while the child is still in the womb. Although the formula cannot predict if an unborn baby has Autism, it could certainly help clinicians identify Autism at a much earlier age, allowing for early intervention.

The ICare4Autism International Conference will be discussing further medical advances and research studies on July 1st in NYC. Speakers include Dr. Celine Saulnier, Clinical Director for Research, Marcus Autism Center, and Assistant Professor at Emory University School of Medicine. Dr. Saulnier will be discussing biomarkers for ASD, as well as detecting the risks for ASD in a child’s first year of life. To hear Dr. Saulnier speak, please select tickets here. Early Bird ticket specials are still available, so now is the best time to register! This is an Autism conference you will not want to miss!

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