Autism Speaks Partners in Supporting Research on Austin’s Genetic Ties

Kenneth DeRoche is an industrial service manager who supervises a team of technicians and conducts project management while ensuring proper quality control. With a community focus, Kenneth DeRoche supports groups that enable health-care research, such as Autism Speaks.

One current collaboration of the nonprofit, in partnership with the University of Toronto, The Hospital for Sick Children, DNAstack, and Verily, fosters exploration into the genetics behind autism. Utilizing data from families living with autism, whole genome sequencing is employed in creating an autism database that includes deep phenotyping. Dubbed MSSNG, the project focuses on enabling better identification of subtypes of autism to improve diagnostics and facilitate personalized treatments.

According to The Hospital for Sick Children’s chief researcher, preliminary findings suggest that 90 percent of the causations for autism relate to genetic factors. One participant profiled, living with repeat sub-clinical seizures, has a rare genetic mutation that affects about 20 percent of those in MSSNG’s database. The project has collected data from over 12,000 families as of 2022.

For families with a child with autism, identifying genetic variations can help them anticipate outcomes and future needs. Once diagnosed with a genetic condition listed in the database, participating families connect with a genetic counselor for assistance with predicting behavioral trajectory and appropriate accommodations or interventions.

Through connections discerned by the program, medical scientists can study these genetic influencers and how different variations affect the brain. Their findings can subsequently guide research on targeted therapies and drug repurposing for treating severe debilitations, such as seizures.

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