The title of my talk: Molecular dissection of human neurodevelopmental disorders
Neurodevelopmental disorders such as autism, intellectual disability and epilepsy affect millions of people, and are often refractory to treatments. Not infrequently autism spectrum disorder phenotypes, intellectual disability and epilepsy are coexisting, suggesting the existence of common molecular mechanisms underlying these syndromes. The causes of epilepsy and autism remain unknown for the majority of cases. Of these, a significant number have a genetic basis and many causative genes remain to be identified. With DNA sequencing being more accessible, the genomes of many patients can be analyzed and more disease-causing genes will be recognized. Even though we predict that each identified gene may represent only a tiny fraction of the total genes involved in these disorders, studying the mechanisms underlying rare inherited forms of neurodevelopmental disorders can be extremely helpful. In my talk I will describe some key discoveries we made in the last few years as well as outline possible future directions.
Bio: As group leader at the Institute of Science and Technology Austria in Klosterneuburg, Austria, Dr Novarino is currently leading a research programme focused on identifying the genetic and molecular basis underlying inherited forms of epilepsy, intellectual disability and autism. Prior to her appointment as Group Leader at the IST Austria, Dr. Novarino, an Italian native, has worked as research fellow in the UCSD, at the Max Delbruck Center for Molecular Medicine as well as in the Center for molecular neurobiology in Hamburg, Germany. Dr. Novarino’s research has been published in very high impact journals including Science, Cell and Neuron. Gaia Novarino won prestigious award including the ERC starting grant and the Boehringer Ingelheim FENS Research Award 2016