Introduction
Research Department of Clinical Genetics
Chairman: Prof.dr. Robert Hofstra
The Department of Clinical Genetics is embedded in the Medical Genetics Cluster 15 of the Erasmus MC. The research of the Department of Clinical Genetics is focused on the identification and characterization of disease genes. In particular, our research aims to understand the molecular and biochemical basis of neurological diseases, including fragile X syndrome, FXTAS and Parkinson’s Disease. Other research lines include: genetic research in isolated populations, Glycogen storage disease type II, Tuberous Sclerosis, epigenetics and molecular cytogenetics.
Secretarial office
Jeannette Lokker
j.lokker@erasmusmc.nl
Room Ee 971
Erasmus MC Faculty building
Dr. Molewaterplein 50
3015 GE Rotterdam
T: +31-10-7043382
F: +31-10-7044736
Aanvraagformulier opsturen bloed voor research.
Research projects
Aida Bertoli-Avella
Our endeavor is the identification and characterization of genes involved in the monogenic forms of congenital heart diseases (CHD) and in familiar aortic aneurysms (AA) aiming at the elucidation of the disease mechanisms.[more]
Vincenzo Bonifati
We are searching for genes involved in Parkinson’s disease (PD) as the starting point for molecular and cell biology studies aimed at illuminating the disease mechanisms, with the ultimate goal of providing novel targets for the development of therapies to stop and prevent this disease [more]
Andre Hoogeveen
In Fragile X syndrome a triplet repeat expansion in the 5’ UTR of the FMR1 gene usually coincides with hypermethylation and transcriptional silencing. We are interested in the epigenetic mechanism that results in the silencing of this gene. Further we study the function(s) of the FMR1 gene product (FMRP) and a family of fragile X related proteins (FXR1P and FXR2P). [more]
The Myeloid Translocation Gene products (MTG8(ETO), MTGR1 and MTG16) are a family of transcriptional co-repressors. We are interested in the epigenetic regulation of these proteins and the role they play in leukaemia and breast cancer [more].
Annelies de Klein
The focus of our molecular(cyto)genetic research is the identification of new (cryptic) abnormalities in children born with multiple congenital anomalies as Esophageal Atresia , Diaphragmatic Hernia and or Congenital Heart Defects. [more]
Uveal melanoma (UM) is the most frequently occurring primary tumour in the eye and over 50% of all patients will die of metastasis. Several prognostic genetic changes on chromosomes 3 or 8 or expression patterns have been linked to metastatic death [more]
Mark Nellist
We are interested in investigating the effects of specific TSC1 and TSC2 mutations on the function of the TSC1-TSC2 complex, and in relating the biochemical effects of these mutations to the pathogenesis of Tuberous Sclerosis Complex [more]
Ben Oostra
Fragile X syndrome, the most common form of inherited mental retardation in man, is caused by the lack of the fragile X mental retardation protein (FMRP). We have developed mouse models for the fragile X syndrome to unravel the molecular mechanisms underlying the disease. [more]
Genetic factors play an important role in the etiology of various complex genetic disorders. We established a program in a genetically isolated population in The Netherlands to study several complex genetic disorders [more]
Arnold Reuser
Lysosomal storage diseases are caused by inherited genetic defects that impair essential functions of the human body and typically manifest as chronic, progressive, illnesses with -long term- fatal outcome. Our research activities are aimed to diagnose and understand the clinical presentations of these diseases starting from the genetic lesions to the deficit of lysosomal proteins and ensuing tissue pathology, with the ultimate goal to intervene therapeutically. Our line of research in Pompe disease is a traditional example of described activities. The transfer of knowledge to students and society is seen as a rewarding duty. [more]
Rob Willemsen
Both the Fragile X syndrome and FXTAS (Fragile X-associated tremor/ataxia syndrome) are linked to the FMR1 gene. FXTAS represents a severe form of neurodegenerative disorder associated with the fragile X premutation, including tremor and/or ataxia, neuropathy, autonomic dysfunction and memory and executive function deficits. [more]
To identify fragile X patients we have developed a FMRP protein test [more]