The First Autism Disease Genes

The autistic disorder, a neurodevelopmental disease first described in 1943, represents a challenge for treatment and a puzzle for research. Alongside Asperger syndrome, a milder form of the disorder, autism is classified in the continuum of various Autism Spectrum Disorders (ASD), all of which are characterized by deficits in language, social interaction, and a strangely restricted and repetitive behaviour (stereotypy). Disease onset occurs during the first three years of life. The earlier the disorder is diagnosed, the sooner the child can be helped through treatment interventions, but unfortunately detection is often delayed. In a vast majority of cases, no disease causes can be identified.

Recent advances in autism research have been fueled by an increased interest in genetics, and the latest developments point to genetic factors playing a prominent role in the causes of ASD.

Professor Marion Leboyer of the Psychiatry Genetic Team INSERM and director of the specialized French research foundation for psychiatric disorders, Fondation FondaMental, Paris, will present the compelling neurobiological story of discovering the first autism genes. Thereby she will highlight new findings on the role of gene mutations, their association with synapse abnormalities, and - surprisingly - a connection between circadian rhythms and autism risk. These insights will nurture applied projects on the development of new therapeutic strategies.



Article adapted from original press release