... / ... / ... / Principal Investigators / Renate Hukema, PhD

Renate Hukema, PhD

Dr. Renate K. HukemaAfbeelding
Assistant Professor

Department of Clinical Genetics
Erasmus MC
Faculty Building, Ee942
Dr.Molewaterplein 40,
3015 GD Rotterdam 

The Netherlands

Email: r.hukema@erasmusmc.nl
Tel: +31 (0) 10 7030684





Renate Hukema received her PhD from the Erasmus University Rotterdam in 2006, where she studied gustatory plasticity in the nematode C. elegans at the departments of Cell Biology and Genetics. After a short postdoc at the department of pathology of UMC Utrecht, she returned to Erasmus MC to work as a postdoc at the department of Clinical Genetics. Her work at this department was funded by E-Rare for which she received a transnational grant as project coordinator of a European consortium and by a prestigious fellowship from the Netherlands Brain Foundation. In 2014 she was selected for the exclusive Female Career Development training program at Erasmus MC for talented women with the potential to become associate professor.

Current research at the department of Clinical Genetics of the Erasmus MC is focused on expanded repeats in neurological disorders. An important goal is to understand the underlying molecular mechanisms involved in order to develop therapeutic interventions. Research is focused at the gain-of-function mechanisms involved in disease progression and tries to target the roles of expanded repeat RNA and the polypeptides translated from these repeats through a mechanism called RAN (repeat associated non-AUG ) translation. Main focus of research is the FMR1 premutation and its related neurodegenerative disorder Fragile X-associated Tremor/Ataxia Syndrome (FXTAS ). Her work includes the generation and characterization of several (transgenic, inducible, and knock-in) mouse models and their derived cellular models. Goal of her research is to use the gained insights about the molecular mechanisms to develop target therapeutic interventions. She has a  broad international network of collaborators with whom she studies RAN translation and its contribution to disease pathogenesis.

Main focus of research is the FMR1 premutation and its related neurodegenerative disorder Fragile X-associated Tremor/Ataxia Syndrome (FXTAS ). Renate designed and generated a new inducible mouse model for this disorder. This investment has payed off in recent publications in Cell Cycle (2014) and Human Molecular Genetics (2015) in which she was the first to show proof-of-principle for reversibility of the disease. Her group studied the inclusions characteristic for FXTAS, both using mouse models and human samples, with a publication in Acta Neuropathologica (2011) which was her  first as last author, but also in Acta Neuropathologica Communications (2014) about the phenomenon of RAN translation involved in FXTAS; this is a hot topic in the field of repeat expansions and neurodegenerative diseases. A recent success was the publication in Human Reproduction (2016) about the finding of FMRpolyG-positive inclusions in FXPOI, another FMR1 premutation related disorder.



Microscopic recording of brain material
of a deceased patient with FXTAS. The
inclusions (brown precipitate) in the core of the
nerve cells are clearly visible.
Picture: Lies-Anne Severijnen, Erasmus MC


Address for couriers:
Renate Hukema
Department of Clinical Genetics,
Erasmus MC, Room Ee918b
Westzeedijk 353
3015 AA Rotterdam
The Netherlands