Amélie Piton, scientist in genetics and pathophysiology of neurodevelopmental diseases

Recherche |

Neurodevelopmental disorders are diseases that have significant consequences on the individual's autonomy, verbal, motor and social skills. This term covers a large number of pathologies whose origin remains linked to the development of the brain's neural networks and describes very diverse realities whose origins and fundamental mechanisms are still to be explored. Amélie Piton, University Lecturer and Hospital Practitioner at the IGBMC, is studying this issue in an attempt to understand the genetic aspects and mechanisms involved.

Neurodevelopmental disorders: a variety of disorders with common origins

The term neurodevelopmental disorder (NDD) covers a large number of pathologies. In this category of disorders, we find in particular :

  • Intellectual disabilities;
  • Autism spectrum disorders
  • Epilepsy of neurodevelopmental origin.

There is significant co-morbidity between these disorders, involving common underlying processes. For example, a person with an autism spectrum disorder is more likely to be prone to neurodevelopmental seizures. These disorders include a range of rare diseases, many of which are genetic in origin. With more than 1000 genes identified as being involved in these diseases, the current challenge in NDD research is to identify new genes involved and to better understand the clinical and molecular consequences of mutations, in order to improve diagnosis and management as well as to develop possible therapeutic approaches.


Better understanding of the genetic and molecular aspects of NDD and the link with its clinical manifestations

At the IGBMC, Amélie Piton's research focuses on the genetic and molecular mechanisms involved in NDD and on the correlations between genotype and phenotype. Thus, the researcher is working on various aspects:

  • the identification of new genes involved in NDD thanks to new sequencing technologies;
  • understanding the molecular consequences of mutations in these genes
  • characterising the clinical consequences of these mutations and establishing correlations between the genetic mutations and their clinical manifestations.    

Recently, Amélie Piton and her team have highlighted the role of mutations in the NOVA2 gene in NDD. In collaboration with the Genomeast platform and with the help of the IGBMC cell culture service, the scientists used neural stem cells in which they inactivated this gene. In this way, they identified genes whose regulation of splicing, the mechanism by which non-coding DNA sequences are eliminated, is altered in the absence of NOVA2 in humans. These genes are involved in regulating the establishment of brain connections, which is consistent with the abnormalities observed in patients and animal models at the junction between the left and right hemispheres of the brain (agenesis of the corpus callosum).

For more information, see this article.


As another example of Amélie Piton's work, you can read this article on the clinical and molecular characterisation of genetic mutations in the DYRK1A gene, a common genetic form of DSD.


Amélie Piton's background

Amélie Piton graduated with a DEA in multifactorial genetics in 2001 and completed her thesis on liver cancer and protective molecules against this type of cancer until 2005. She did her first post-doctorate at the Centre Hospitalier de l'Université de Montréal, in Guy Rouleau's team, where she worked on the identification of genes involved in autism spectrum disorders on the X chromosome.


In 2011, Amélie Piton joined Jean-Louis Mandel's team at the IGBMC as a post-doctoral fellow to work on the identification of genetic and environmental (testosterone) factors involved in ASD, where she developed a genetic diagnostic test for ASD based on new sequencing approaches. She obtained the title of University Lecturer - Hospital Practitioner in 2014. In 2020, the scientist co-directs the Genetics and Pathophysiology of Neurodevelopmental Diseases team with Hervé Moine.


Currently, Amélie Piton's activity consists of three main components: research, hospital practice and teaching. Thus, she divides her time between the Strasbourg University Hospital, the IGBMC and the various training centres where she works. The researcher teaches in various courses in Strasbourg (Faculty of Medicine, ESBS, Master's degrees) as well as in Master's degrees and university diplomas in Paris, Rennes or Dijon.