Genetic Link Between Autism & Epilepsy

What’s the Big Idea?

When the Human Genome Project was completed in 2003, after more than a decade of research, scientists hoped that mapping our species’ 20,000-25,000 genes would provide a magic key to unlock the mystery of genetic disorders. We collectively imagined individual gene therapies and preventative treatments for those with genetic predispositions to diseases like cystic fibrosis and sickle cell. Eight years later, mapping the human genome has proven to be no simple solution and we are left with more new questions than definitive answers about genetic diseases.

What’s the Most Recent Development?

Researchers at the University of Montreal have discovered a gene that predisposes individuals to autism and epilepsy. Both diseases are neurological in nature and hypotheses have supposed a link between the two before, but it is the first time a specific gene—the synapsin gene (SYN1)—has been identified. A mutation in the gene, which is necessary for the development of the membrane surrounding neurotransmitters, can cause defective communication between neurons, central components of the nervous system.