Improving care. Changing lives.

Child Mental Health Forum - Catalina Betancur, M.D., Ph.D.

Wednesday, December 5, 2018 - 10:00am to 11:15am
Catalina Betancur

Genetics of Autism Spectrum Disorder

Catalina Betancur, M.D., Ph.D.
Director of Research, INSERM, 
Sorbonne University, Paris, France

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. The pace of gene discovery has greatly accelerated in recent years, fuelled by advances in genetic analysis technologies using microarrays and next-generation sequencing. 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, but can sometimes be inherited, with the latter often exhibiting variable expressivity and/or incomplete penetrance. Many of the genetic variants identified in ASD confer risk for a broad range of neurodevelopmental and neuropsychiatric disorders, including intellectual disability, epilepsy and schizophrenia. Despite the extreme genetic heterogeneity, many genes converge in functional pathways, giving insights into the underlying pathophysiology and providing therapeutic targets. In particular, a large number of genes implicated in ASD and other neurodevelopmental disorders are involved in synaptic function and chromatin modification. In my talk, I will review our current understanding of the genetic and genomic architecture of ASD, focusing on large-scale CNV analysis and exome sequencing studies.

Target Audience: Physicians (psychiatrists, pediatricians, child neurologists), psychologists, social workers, other mental health clinicians and researchers, and students and trainees.

Upon completion of this activity, participants will be able to:

  1. Gain knowledge about the genetic defects underlying ASD and their overlap with other neurodevelopmental conditions
  2. Become familiar with recent advances in genetic analysis technologies and their applications in clinical practice
  3. Gain appreciation of how genetic findings in ASD offer a window into functional pathways involved in the neurobiology of the disorder and can lead to novel therapeutic approaches

 

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