Rosa Rademakers Lab

Research focus

Research in our group is focused on the discovery and functional characterization of novel disease genes implicated in frontotemporal lobar degeneration (FTLD) and related disorders. FTLD represents 10-20% of all dementias and is clinically important because of its early onset and its dramatic impact on core human qualities, including personality, insight and verbal communication. While significant progress has been made in recent years to improve our understanding of the genetics of FTLD and the pathologies underlying this collection of neurodegenerative diseases, the etiology of the disease remains unknown in more than half of the patients. 

Our group leads world-wide
consortia to identify causal genes and genetic risk factors for two important pathological subtypes of FTLD: FTLD with TDP-43 pathology (FTLD-TDP) and FTLD with FUS pathology (FTLD-FUS). We combine genomic, transcriptomic, epigenomic and proteomic analyses on unique collections of FTLD-TDP and FTLD-FUS brain tissues to identify genes and pathways implicated in disease. We also lead consortia focused on genetic disease modifiers in FTLD patients which are known to carry mutations in GRN and C9orf72 with the goal to identify factors that could explain the large variability in symptom onset, clinical phenotype and disease penetrance in patients with these mutations. Additional studies are focused on collaborative efforts to combine rich collections of human data to study the similarities and differences among neurodegenerative diseases.

Our group also leverages our genetic findings to further the understanding of FTLD and related disorders through the generation of cell and mouse models. Most recently, we are focusing on TMEM106B, a lysosomal protein with relatively unknown function which we found to be the major modifier of disease in patients with GRN mutations. We have generated several Tmem106b mouse models, including Tmem106b CRISPR/Cas9 knock-in mice with possible protective and risk variants. Careful assessments of these mice on wild-type and Grn knock-out backgrounds is ongoing to increase our understanding of TMEM10B and its potential as a therapeutic target.

Through the discovery of novel FTLD disease genes and factors that modify the expression of known disease genes such as GRN and C9orf72, our research provides important new insight into the pathomechanisms underlying FTLD. As such we contribute to a more accurate and earlier diagnosis of FTLD patients, to the development of biomarkers associated with disease phenotype and/or progression and to the identification new targets for neurodegenerative disease therapies. 

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News

18 of the world’s most influential researchers at VIB

20/11/2019 - Each year, Clarivate analytics identifies the world’s most influential researchers who have been cited most frequently by their peers over the last decade. No less than 18 VIB researchers are part of this highly acclaimed group of influential scientists.

Meet Rosa Rademakers: new director of the VIB-UAntwerp Center for Molecular Neurology

24/06/2019 - Since Christine Van Broeckhoven will be retiring as director of the VIB-UAntwerp Center for Molecular Neurology, we needed someone to replace her. VIB managed to attract Rosa Rademakers, an alumnus of the center and former student of Christine.

Rosa Rademakers

Rosa Rademakers

Research area(s)

Model organism(s)

Bio

PhD: University of Antwerp, Belgium, 2004
Postdoc: University of Antwerp, Belgium 2004-2005
Postdoc: Mayo Clinic, Jacksonville, Florida, USA 2005-2007
Professor and Group Leader: Mayo Clinic, Jacksonville, Florida USA 2007-2019
Professor: University of Antwerp, Belgium since 2019
Group Leader VIB since 2019
VIB science Director since 2019

Contact Info

VIB-UAntwerp Center for Molecular NeurologyGebouw VCampus Drie EikenUniversiteitsplein 1 2610 ANTWERPENRoute description