Scientist investigates how two gene mutations contribute to autism

April 24, 2019

Dr. Pierre MattarDr. Pierre Mattar received $300,000 from the Simons Foundation to investigate how mutations of two genes contribute to autism. While certain mutations have been linked with autism, exactly how they affect brain development is unknown. Dr. Mattar’s team previously found that the Adnp and Chd4 genes play an important role in producing different types of neurons. These genes are frequent targets of autism-associated mutations. The team will investigate how the proteins expressed by these genes interact with each other and impact brain development. They will also look at how the mutated form of the Adnp gene affects the formation of new neurons. They hope to determine the mechanisms and molecular pathways by which these two mutations contribute to autism. This research will pave the way for future work exploring the impact of Adnp mutations on behavior and how the body works.

“We hope to better understand how these gene mutations affect brain development in people with autism,” said Dr. Mattar, scientist at The Ottawa Hospital and assistant professor at the University of Ottawa.

Research at The Ottawa Hospital is possible through generous donations to The Ottawa Hospital Foundation.

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Disease and research area tags: Autism, Brain and neuromuscular disease, Vision, Genetics

Scientific Program tags: Regenerative Medicine Program