Ype Elgersma, PhD
Professor of Molecular Neuroscience
Chair Research and Education, Dept. of Clinical Genetics
Scientific director ENCORE Expertise Centre for Neurodevelopmental Disorders
Erasmus MC, Rotterdam, The Netherlands
Ype Elgersma is a Professor of Molecular Neuroscience, Chair Research and Education, Dept. of Clinical Genetics and Scientific director ENCORE Expertise Centre for Neurodevelopmental Disorders
At Erasmus MC, Rotterdam, The Netherlands. His research is focused on the molecular and cellular mechanisms underlying neurodevelopmental disorders, and to translate these findings into potential therapies. The Elgersma lab has a been investigating Angelman Syndrome for over 20 years and developed multiple AS mouse models, mimicking all genetic causes of AS. Ype Elgersma was the recipient of the 2017 Dr. Claudia Benton Award for Scientific Research on Angelman Syndrome.
His research into neurodevelopmental disorders is divided into three research lines:
Improving diagnosis: To improve genetic diagnosis, we have developed a functional genomics screen (called PRiSM) to rapidly determine if a genetic variant is pathogenic (see www.functionalgenomics.nl). This screen is not only important for providing a diagnosis, but also allows us to get more insight in the genes underlying neurodevelopment.
Understanding the mechanisms underlying neurodevelopmental disorders and development of treatments: To get more insight in the pathophysiology of neurodevelopmental disorders, we typically make use of iPSC cells and genetically engineered mouse models as a tool to dissect the underlying mechanisms. Mouse models are analyzed at the biochemical, cellular (electrophysiological) and behavioral level. By analyzing the mice at all these levels, we hope to understand the specific function of these genes and proteins in brain development and learning and memory. Subsequently we use our cellular and animal models to test drugs to ameliorate the deficits. Current focus is on using genetic therapies such as antisense oligonucleotides (ASOs) for which we participate in the Dutch Center for RNA Therapeutics (DCRT; www.rnatherapy.nl). Ype is also leading the TAILORED consortium for developing personalized ASOs.
Translational research: To translate our findings to the patients, I founded the ENCORE expertise center for neurodevelopmental disorders, for which I’m the scientific director (www.encore-expertisecentrum.nl). ENCORE encompasses 15 nationally recognised expertise enters and participates in 2 European Reference Networks (ERNs). It includes (amongst others) the national referral center for TSC, Angelman Syndrome, Neurofibromatosis, Fragile X, Cortical migration disorders, Synaptopathies, and Genetic forms of Autism (UNIQUE).