Dr Agnies Van Eeghen

Agnies van Eeghen, MD, PhD, works as an intellectual disability physician, a novel medical specialty in the Netherlands. She is specialised in the neurobehavioral phenotypes of genetic syndromes such as Tuberous Sclerosis Complex (TSC) and Fragile X Syndrome (FXS).

After obtaining her medical degree, she followed the Intellectual Disability specialisation at the Erasmus Medical Center in Rotterdam. Subsequently, she worked as a research fellow at Massachusetts General Hospital in Boston, resulting in a PhD on the neuropsychiatric phenotype of Tuberous Sclerosis Complex. After moving back to the Netherlands, she rejoined the Erasmus Medical Center as co-ordinator of the adult expertise center of TSC. Additionally, she set up a multidisciplinary TAND clinic near Amsterdam. Next to TSC-related work, she works at the Amsterdam UMC and ID care organisation ‘s Heeren Loo, where she provides general care for children and adults with ID; also she takes part in national expertise centers for Fragile X Syndrome and Smith Magenis syndrome.

In addition to clinical work, Agnies supervises PhDs and postdocs, focusing on manifestations and treatment of neuropsychiatric phenotypes in genetic neurodevelopmental disorders including TSC, focusing on small trial designs, outcome measures, cognitive ageing, and guideline methodology. She is chair of the guideline steering committee of the European Reference Network ITHACA and of the guideline committee of the Dutch association for intellectual disability physicians.