Award-Winning Autism Researcher Visits Jülich

Jülich, 10 June 2021 – Forschungszentrum Jülich is very highly regarded by international scientists with a scholarship or an award from the Alexander von Humboldt Foundation. This summer, the Institute of Neuroscience and Medicine (INM) will play host to Dr. Silvia De Rubeis from the Icahn School of Medicine at Mount Sinai in New York, who has received the Friedrich Wilhelm Bessel Research Award from the Alexander von Humboldt Foundation, together with € 45,000 in prize money, for her research into autism spectrum disorders (ASD). She will work together with a number of scientists from INM to implement research projects, including Prof. Dr. Paolo Carloni, who successfully nominated her for the award. The Alexander von Humboldt Foundation presents around 20 Friedrich Wilhelm Bessel Research Awards annually to internationally renowned academics from abroad in recognition of their outstanding accomplishments in research.

ASD is a common neurodevelopmental disorder that affects up to one percent of the population. In the course of her research, Dr. De Rubeis found new genes and associated biological processes that are impaired in individuals affected by ASD.

Dr. Silvia De Rubeis
Dr. Silvia De Rubeis
Icahn School of Medicine at Mount Sinai

Having received the Friedrich Wilhelm Bessel Research Award, she now plans to study how variants of these genes affect communication between neuron synapses and in which area of the brain they do so, together with scientists from INM. Her goal is to identify new approaches to precision medicine, which will improve the lives of children and adults with ASD and other neurodevelopmental disorders. Precision medicine, also known as personalized medicine, aims to give patients more targeted and individualized treatment in future and to better identify the cause of a disorder at a molecular level.

The research project benefits in particular from the many years of reliable partnerships between the Computational Biomedicine subinstitute (INM-9/IAS-5) and scientists from Italy and Germany.

An interview with Dr. Silvia de Rubeis, Icahn School of Medicine at Mount Sinai, New York:

Dr. De Rubeis, what is your field of research?
My research focuses on the genetic and neurobiological bases of neurodevelopmental disorders, including autism and intellectual disability. My laboratory uses cellular and mouse models to understand how genetic mutations lead to the complex developmental and behavioral alterations associated with these conditions. We particularly focus on a gene called DDX3X, which, when mutated, leads to a neurodevelopmental disorder called DDX3X syndrome that primarily affects females.

What will your scientific collaboration with Prof. Carloni look like?
Prof Carloni and I are building an interdisciplinary collaboration that will bring together my skills in human genetics and his expertise in computational biology. Our goal is to leverage this synergy to understand the molecular underpinnings of neurodevelopmental disorders, including autism spectrum disorder. We will specifically examine the impact of genetic mutations associated with adverse neurodevelopmental outcomes on the function and structure of proteins regulating the communication between nerve cells.

What interests you most at Forschungszentrum Jülich?
Forschungszentrum Jülich is the ideal environment for this new line of research because of its extraordinary high-performance computing resources and the deep biophysical expertise in the context of neuroscience established by the Carloni lab. These two elements are necessary to reach the high-throughput scale and the granularity that we need to translate genetic and biophysical analyses into the identification of potential targets for therapeutic intervention. I am also thrilled about the opportunity of working together with other outstanding experts in neurological and psychiatric disorders, like Prof. Kerstin Konrad from the JARA Institute Molecular Neuroscience and Neuroimaging (INM-11), and of learning more about innovative neuroimaging techniques and analytical models that are being developed at Jülich.

Further Information

Institute for Advanced Simulation (IAS), Computational Biomedicine (IAS-5 / INM-9)

Last Modified: 22.05.2022