Gert Matthijs, Ph.D.
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1985
1985-1989
1989
1990-1996
1997
2000
2002
2003
2006
“Prix Madame Vve. Mathys-Bové” 2000 (Université Catholique de
Louvain)
“Körber European Science Award” 2004 with Prof. von Figura, Prof.
Aebi, Prof. Hennet, Prof. Jaeken and Prof. Lehle.
Pharmacist (Apotheker, K.U.Leuven)
Aspirant NFWO (Doctoral grant)
Doctor in the Pharmaceutical Sciences (PhD) (K.U.Leuven)
Postdoctoral grant NFWO
Assistant Professor (Docent)
Associate Professor (Hoofddocent)
Registered as Clinical Molecular Geneticist (The Netherlands)
Professor (Deeltijds hoogleraar)
Professor (Buitengewoon hoogleraar)
Main research fields
 Congenital Disorders of Glycosylation (CDG) (coordinator of the European project
EUROGLYCANET)
 Gene patents and public health
 Cell-free fetal DNA in maternal blood (as a new direction for diagnostics)
 Validation of novel technologies for genetic diagnostics (coordinator resp. core participant of the
European projects EUROGENTEST and TECHGENE)
Research team and collaborations
Gert MATTHIJS (°1963), PhD, is the Head of the Laboratory for Molecular Diagnostics at the Center
for Human Genetics in Leuven, Belgium.
He is a molecular geneticist, involved in the diagnostics of inherited diseases since 1994. The Center
for Human Genetics is the largest genetic department in Belgium, and the laboratory is analysing
more than 10.000 DNA samples per year. The laboratory is offering molecular tests for the more
common genetic diseases like cystic fibrosis, fragile X syndrome, Huntington’s disease, myotonic
dystrophy, spinal muscular atrophy, hemophilia and Duchenne/Becker Muscular Dystrophy, and for a
series of less frequent disorders. The laboratory also offers testing for familial breast- and ovarium
cancer (BRCA1 and BRCA2) and familial colon cancer and other familial cancer syndromes.
He is teaching human genetics at the University of Leuven. He became Assistant Professor in 1997,
Associate Professor in 2000, Professor in 2003 and Full Professor in 2006.
His major research interest is in Congenital Disorders of Glycosylation (CDG), a group of rare inborn
errors of metabolism. He is the coordinator of EUROGLYCANET, a European project focusing on the
identification of novel defects and the generation of mouse models for CDG. For this work on CDG,
he received the “Körber European Science Award” in 2004, together with Prof. von Figura, Prof. Aebi,
Prof. Hennet, Prof. Jaeken and Prof. Lehle.
He is the coordinator of EUROGENTEST, a network of excellence (NoE) for development,
harmonization, validation and standardization of genetic testing in Europe, funded by the European
Commission. He was a Board member and chaired the Patenting and Licensing Committee of the
European Society of Human Genetics (ESHG), and was actively involved in the European opposition
against the BRCA patents. At the national level, he has been a thriving force for a revision of the
reimbursement system for genetic tests.
Contact
Tel. +32-16-346070
Fax +32-16-346060
http://med.kuleuven.be/moleculairediagnostiek/
E-mail gert.matthijs@uzleuven.be
Selected publications (2006 - 2010) (*=equal contrib.; °=corresponding author)
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Foulquier F, Vasile E, Schollen E, Callewaert N, Raemaekers T, Quelhas D, Jaeken J, Mills P,
Winchester B, Krieger M, Annaert W*°, Matthijs G*°. COG1 deficiency: a new type of Congenital
Disorder of Glycosylation type II Proc. Natl. Acad. Sci. (PNAS) 2006, 103: 3764-9.
Reynders E*, Foulquier F*, Leão Teles E, Quelhas D, Morelle W, Rabouille C, Annaert W*°,
Matthijs G*°. Golgi function and dysfunction in the first COG4-deficient CDG type II patient. Hum
Mol Genet. 2009 Sep 1;18(17):3244-56.
Congenital Disorders of Glycosylation (CDG) have been my main research interest since 1995.
We cloned the gene for the first and most frequent type, back in 1996. Since then, we have
contributed to the elucidation of a number of defects. The defects related to intracellular
trafficking are among the most recent and most exciting ones; the identification of these defects
has opened a new direction into the research on defects of glycosylation.
Veiga-da-Cunha M, Vleugels W, Maliekal P, Matthijs G, Van Schaftingen E. Mammalian
phosphomannomutase PMM1 is the brain IMP-sensitive glucose-1,6-bisphosphatase. J Biol
Chem. 2008 Dec 5;283(49):33988-93.
We spent several years to create and analyse KO mice for PMM1 – an orthologue of PMM2, the
phosphomannomutase which is deficient in CDG-Ia patients – in collaboration with the group of
Prof. von Figura and Prof. Körner. It turned out the that the mice were perfectly normal (while the
Pmm2 KO is lethal in the blastocyst stage – which is equally frustrating). Still, the detailed
analysis made it to Mol Cell Biol, thanks to the elaborate description of Pmm1 and Pmm2
expression. It was very rewarding that the function of PMM1 was identified later by our
collaborators in Brussels, and the mice have been instrumental for this work. In brief, PMM1 is
not a phosphomannomutase in vivo, but the long sought after glucose-1,6-bisphosphatase.
Jaeken J, Matthijs G. From glycosylation to glycosylation diseases. Biochim Biophys Acta.
2009 Sep;1792(9):823.
Together with Prof. Jaeken, and upon invitation by BBA, we recently edited a Special Issue on
CDG. This is the introduction, the issue contains 16 contributions (reviews) from experts in the
field, on all currently known types of CDG.
Matthijs, G. The European opposition against the BRCA gene patents. Familial Cancer 2006,
5(1):95-102.
Since 2001, I have spent an awful lot of time on the leading the European opposition against the
granting of patents on BRCA1 and BRCA2. This has been a wonderful experience, and a
personal challenge. The opposition procedure has been successful, given that the 4 BRCA
patents have been severely amended after opposition and appeal. But I have tried to go beyond
the Myriad case, in 2 ways. First, as the chairperson of a Patenting and Licensing Committee for
the European Society of Human Genetics, I have lead a workgroup that prepared recommenddations on behalf of the society; a special issue of Eur J Hum Genet was published in 2008.
Aymé S, Matthijs G, Soini S (ESHG Working Party on Patenting and Licensing). Patenting and
licensing in genetic testing: recommendations of the European Society of Human Genetics. Eur J
Hum Genet. 2008 May;16 Suppl 1:S10-9.
Second, in collaboration with a research team at the Center for Intellectual Rights (CIR, Faculty of
Law, KU Leuven), we have successfully initiated a project on Genes and Patenting, which has
generated high impact papers, mostly thanks to the multidisciplinary nature of the approach:
Van Overwalle G, Van Zimmeren E, Verbeure B, Matthijs G°. Models for facilitating access to
patents on genetic inventions. Nature Reviews Genetics 2006 7:143-54.
Huys I*, Berthels N*, Matthijs G°, Van Overwalle G. Legal uncertainty in the area of genetic
diagnostic testing. Nature Biotechnology 2009 Oct;27(10):903-9.
Mattocks C, Morris M, Matthijs G, Swinnen E, Corveleyn A, Dequeker E, Müller CR, Pratt V,
Wallace A for the EuroGentest Validation Group. A standardized framework for the validation and
verification of clinical molecular genetic tests. Eur J Hum Genet 2010 (in press).
My (translational) research activities also deal with the development and validation of novel
technologies for diagnostic use. This activity is of course directly linked to the diagnostic activities
of our center. Validation of novel methods is a burden for the individual lab, and therefore I took
the initiative, several years ago, to join forces with other expert labs, mostly in the context and
with the financial support of the EuroGentest project. This document is a guideline for diagnostic
laboratories.