After a Master in plant biology, I obtained my Ph.D in human genetics to study mitochondrial diseases. I studied the fate of mtDNA deletions and identified the first mutations of the Krebs cycle (FH) and of the nuclear genes of the respiratory chain (SDHA) in humans. I obtained a permanent position as Assistant Professor at University Denis Diderot Paris 7 and joined the Institut Pasteur to study the role of the Y chromosome in male infertility.
In 2003, I established a laboratory to study the genetics of autism spectrum disorders (ASD). Our main result is the identification of one synaptic pathway associated with ASD. The causative genes code for cell adhesion molecules (NLGN3, NLGN4, NRXN1) or scaffolding protein (SHANK2 and SHANK3). These proteins are crucial factors for appropriate synaptic function. In parallel, we identified genetic mutations disrupting melatonin synthesis in individuals with ASD. Our current projects aim to understand the role of synaptic and circadian-clock genes in the development of language and social communication in humans.
