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Principal Investigators

Robert Hofstra, PhD (Chairman Dept.) Afbeelding
My group aims at identifying and characterizing genes and mutations in genes contributing to inherited diseases and cancer and to understand how these mutant genes contribute to disease development. Most of the work in my group is focussed on Hirschsprung disease and congenital short bowel syndrome. [

Rob Willemsen, PhD (Chair of research) Afbeelding
The research of my
group is focused on the cellular function of FMRP and the pathogenesis of the fragile X syndrome, using both in vitro studies (primary neurons) and animal models (mouse and zebrafish). Recently, research has focused on the molecular mechanisms and development of translational endpoints facilitating novel therapies for fragile X syndrome (e.g. mGluR5, GABA pathways). [more]

Vincenzo Bonifati, MD, PhD Vincenzo Bonifati
We are searching for genes involved in Parkinson’s disease and other movement disorders, to provide clues for understanding of the disease mechanisms, and to identify novel targets for the development of therapies to stop and prevent these diseases. [more]

Alan Burns, PhD Afbeelding
The overall aim of the research is to better understand, and establish novel treatments for, disorders/diseases resulting from abnormal development of the neuromuscular components of the gastrointestinal tract. [
more ]

Annelies de Klein, PhD Afbeelding
Current research projects are the role of chromosomal aberrations in congenital
nomalies such as congenital diaphragmatic hernia and esophageal atresia and uveal melanoma. [more]

Grazia Mancini, MD, PhD Grazia Mancini
The aim of my group is to better understand the development of the brain. Within this complex process we focus on developmental disorders of the brain, classified on radiological (MRI) pattern, such as lissencephaly, nodular heterotopia, polymicrogyria, microcephaly, megalencephaly, schizencephaly and porencephaly. All of these are very rare diseases and the knowledge about the disease mechanism is very limited. [more]

Tjakko van Ham, PhD  Afbeelding
We are interested in the role of immune cells in the brain and in neurological disease. To identify molecular mechanisms important to understand and control processes in brain diseases such as Alzheimer’s disease we use zebrafish in combination with advanced microscopic imaging, genetics and chemical biology approaches. [more]

Renate K Hukema, PhD Afbeelding
The research of my group is focused on studying the FMR1 premutation and its related neurodegenerative disorder FXTAS. We have several cellular and mouse models available to unravel the underlying molecular mechanisms of this neurodegenerative disease. These models are used to develop a targeted therapeutic intervention for FXTAS. [more]

Pim Pijnappel, PhD pim-pijnappel-100x133
Our aim is to understand the molecular mechanisms of Lysosomal Storage Diseases and to develop novel treatment options based on regenerative medicine and gene therapy. [more]

Stefan Barakat, PhD  Stefan Barakat
My group is interested in deciphering the role of non-coding genome alterations in the pathogenesis of genetic disorders, with a particular focus on disorders of brain development. Using functional genomics approaches we are characterizing those non-coding regions that have a measurable function and are studying those in patient derived induced pluripotent stem cells and organoids. [more]

Sam Riedijk, PhD  Sam Riedijk
As a counselor, I am familiar with the challenges and expectations of patients opting for genetic counseling. My aim is to conduct clinically based psychological research enabling us offer adequate psychological support in the rapidly advancing field of clinical genetics. [more]


Virginie Verhoeven, MD, PhD Afbeelding
Myopia (nearsightedness) is a growing public health issue due to its rapidly rising prevalence all over the world. [more]




Anja Wagner, MD, PhD Anja Wagner
Hereditary gastrointestinal tumors remained the main topic of research for Dr. Anja Wagner. She built a successful collaboration with colleagues. [more]

Ingrid van de Laar, MD, PhD
Fundamental and translational research. Our basic aneurysm research is focused on discovering the causes of aneurysm formation and growth.  [more]