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Séminaire - Catalina Betancur Genetic architecture of autism: from gene discovery to functional dissection of rare mutations

Abstract :

The genetic architecture of autism spectrum disorder (ASD) is highly heterogeneous and involves hundreds of loci, each contributing to a very small fraction of cases. To date, a genetic etiology is identified in ~20% of the patients, including chromosomal rearrangements, copy number variants (CNV) and sequence variants. All these abnormalities are rare, and often occur de novo. Despite this heterogeneity, many genes converge in functional pathways, providing therapeutic targets. In particular, a large number of genes implicated in ASD are involved in synaptic function. Many of the genetic variants identified in ASD confer risk for a broad range of neurodevelopmental and neuropsychiatric disorders, including intellectual disability and epilepsy. In my talk, I will discuss what we have learned about the causes of autism and the questions that remain unanswered.

Selected publications

Pinto D, Pagnamenta AT, Klei L [...] Scherer SW, Sutcliffe JS, Betancur C (2010) Functional impact of global rare copy number variation in autism spectrum disorders. Nature 466, 368-372

Pinto D, Delaby E, Merico D [...]  Betancur C*, Scherer SW* (2014) Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. Am J Hum Genet 94, 677–694  (*co-senior authors)

Betancur C (2011) Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting. Brain Res 1380, 42-77

Pilorge M, Fassier C, [...]  Legendre P, Betancur C (2016) Genetic and functional analyses demonstrate a role for abnormal glycinergic signaling in autism. Mol Psychiatry 21, 936-945

Scientific focus :

Catalina Betancur received her medical degree from the Universidad CES in Medellin, Colombia. She then obtained a PhD in neuroscience from the University of Bordeaux, France. She is Director of Research at the INSERM.

Dr. Betancur's work is focused on the elucidation of the genetic basis of autism spectrum disorders. She is a lead investigator of the international consortia Autism Genome Project and Autism Sequencing Consortium, Associate Editor of Molecular Autism, and member of the Scientific Advisory Board of the Phelan-McDermid Syndrome Foundation.