Annette Schenck is Professor and head of the Translational genomics of Neurodevelopmental Disorder group at Nijmegen’s Human Genetics Department, Radboud University Medical Centre, the Netherlands. Annette studied Biotechnology at Berlin’s University of Technology. In 2003, she obtained her PhD and an award for the best thesis of the year from the University Louis Pasteur, Strasbourg, France, for her work on the molecular basis of Fragile X Syndrome. Her postdoctoral research at the Max Planck Institute for Cell Biology & Genetics in Dresden, Germany, unravelled the function of a novel endocytic organelle. In 2007 she established her research group in Nijmegen. Schenck’s work has pioneered the application of Drosophila as a model to understand the molecular basis of Intellectual Disability and Autism spectrum disorders (ID/ASD). Her group performed the first large-scale phenotyping approaches to these disorders, unravelled numerous disease mechanisms and molecular modules and demonstrated that cognitive deficits in ID/ASD models can be reversed in adulthood. Her current excitement are pharmacological, behavioural and dietary intervention projects using translational, patient-relevant readouts. Annette also applies Drosophila to improve diagnostics, which has contributed to the identification of >two dozen ID/ASD genes and provided evidence that Drosophila can contribute to clinical decision making.
Translational studies into Autism and Intellectual Disability disorders – of mechanisms and treatment strategies
Intellectual Disability and co-occurring Autism spectrum disorders are, due to their high frequency and lifetime long expenses, the biggest unmet challenge in clinical genetics and among the largest cost factors of health care in Western countries. They are largely monogenic, and disease gene identification over the past decade has been highly successful. More than 1500 causative genes have been reported, providing exciting stepping stones into the molecular basis of cognition. However, the role of most ID genes, particularly in the nervous system, is poorly understood, and so are the pathogenic consequences of deleterious mutations and their potential reversibility later in development. A highly efficient model organism is needed to make use of the available genetic information to advance our knowledge and patient care in this field.
I will point out some bottlenecks in the field and highlight the unique advantages of the fruit fly Drosophila as a model for ID/ASD disorders that allow to efficiently address these bottlenecks. I will provide examples of our work into the molecular mechanisms, cellular substrates, and critical time windows of ID/ASD-associated phenotypes and discuss the diagnostic and therapeutic strategies that we are exploring.