Researchers discover common genetics in autism and epilepsy

by Jessica K. Smith | 0

Below is a story that was originally produced for the Journal of Human Molecular Genetics (May 2011). The research is so groundbreaking that the story has already been picked up by Science Daily, The Toronto Sun, The Ottowa Sun, A Health Blog, BioQuick News, PhysOrg and is spreading across the globe swiftly.

What’s the story?
Led by the neurologist Dr. Patrick Cossette, the research team at Département de Médecine, Université de Montréal, CHUM-Hôpital Notre-Dame found a severe mutation of the synapsin gene (SYN1) in each member of a large French-Canadian family suffering from epilepsy, including individuals also suffering from autism. This study also included an analysis of two cohorts of individuals from Quebec, which made it possible to identify other mutations in the SYN1 gene among 1% and 3.5% of those suffering respectively from autism and epilepsy, while several carriers of the SYN1 mutation displayed symptoms of both disorders.

“The results show for the first time the role of the SYN1 gene in autism, in addition to epilepsy, and strengthen the hypothesis that a deregulation of the function of synapse because of this mutation is the cause of both diseases,” notes Cossette. He adds that “until now, no other genetic study of humans has made this demonstration.”

The Whole Deal
To read the full study go to the source at the Journal of Human Molecular Genetics.

I can’t wait to hear your thoughts on this story.

Jessica K. Smith Founder and CEO; Executive Director

Jessica Keenan Smith is a patient advocate and epilepsy community leader with more than 15 years of experience. As Founder and CEO of Living Well With Epilepsy and Executive Director of ASENT she bridges the gap between the scientific and patient communities, with a particular focus on the needs of the epilepsies. Jessica Keenan Smith is Founder and CEO of Living Well With Epilepsy, an award winning online resource for people affected by epilepsy to share stories and access in-depth information on the disease. Since 2009, Living Well With Epilepsy (https://livingwellwithepilepsy.com) has been featured in Forbes, Wired, NBC, NPR and the cover story of Epilepsy Advocate Magazine and has partnered with companies such as UCB, Lundbeck, Sunovion, Eisai, and more. Ms. Smith is also the Executive Director of the American Society for Experimental Neurotherapeutics (ASENT) (https://asent.org), an organization that brings together leaders from industry, academia, government and advocacy who are engaged in bringing drugs and devices to market across all neurologic disease states. In this role she is responsible for leading a successful scientific journal and annual scientific conference with speakers from all over the world.

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