Institute of Science and Technology Austria (ISTA), Austria
Studying cortical development through the lens of human disorders
Autism Spectrum Disorders (ASD), are a range of neurodevelopmental disorders characterized by social communication and interaction deficits, as well as repetitive, restrictive behaviors, interests or activities. Several studies showed that in many instances the great number of genes implicated in neurological disorders converges on a much smaller number of biological pathways. Yet the link between genotype and phenotype is complex and how point mutations, insertions or deletions of specific genes affect the behavior and why the same mutations give rise to a spectrum of deficits are still open questions. In the last years, we had discovered and studied a number of ASD-risk genes. In my talk I will present examples of how generating and analyzing mouse models for ASD-associated mutation can lead to a better understanding of this group of neuropsychiatric disorders and the development of the mammalian cortex.
Her main interest is to identify and study genetic causes of neurodevelopmental disorders such as epileptic encephalopathies, autism and intellectual disability. In particular, her laboratory, consisting of six postdoctoral fellows, four Ph.D. students, two student intern and two technical assistants, is focused on the study of genetic mutations, cellular and molecular mechanisms underlying to these disorders. Moreover, employing a number of different approaches, they are interested in identifying strategies to reverse or treat core symptoms of ASD. In the last few years, her group got consolidated, and they significantly contributed to this field of research.