CV Science

Amélie Piton Genetics of neurodevelopmental disorders

Course and current status

Professional experience and training:

 2014 - : Maitre de Conférence des Universités - Praticien Hospitalier (Human Genetics) - Strasbourg Faculty of Medicine/ Laboratoire de Diagnostic Génétique des Hôpitaux Universitaires de Strasbourg/ Department of Translational Medicine and Neurogenetics, IGBMC, Illkirch.

2011-2014: Postdoc (Human genetics), Institute of Genetics and Molecular and Cellular Biology (IGBMC) Department of Translational Medicine and Neurogenetics, team of Prof. Jean-Louis Mandel. Genetic basis of intellectual disability and autism

2006-2010: Postdoc (Human Genetics), Research Center of the University of Montreal Hospital, in the Brain Diseases Laboratory, directed by Dr. Guy Rouleau. Identification of genes involved in common neurodevelopmental diseases, autism and schizophrenia

2001-2005: PhD/ University thesis (Molecular Biology) under the supervision of Dr Fabrice Morel.

2000-2001: Master/DEA in Multifactorial Genetics (Human Genetics), Pierre-et-Marie-Curie University (Paris) & Institut Pasteur

Scientific summary

- Identification of mutations in novel genes involved in neurodevelopmental disorders in Intellectual Disability (ID) and Autism Spectrum Disorders (ASD), molecular and clinical consequences

- Characterization of the pathophysiological mechanisms involved in some common monogenic forms of ID/ASD using cellular and transcriptomic models

- Development and transfer to hospital of efficient genetic and functional tools to improve molecular diagnosis of ID/ASD

- Understanding the excess of males affected by ASD/ID by studying the role of androgens in neuronal precursors