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 Johan T Den Dunnen, PhD
Center for Human Clinical Genetics,
Leiden University Medical Center,
Einthovenweg 20, 2333ZC LEIDEN, Nederland.
Tel: +31-71-526 9501
Fax: +31-71-526
Email: ddunnen@HumGen.nl
JT den Dunnen is a molecular biologist that received his PhD at the
Katholieke Universiteit Nijmegen (Nederland). He is currently employed as Ass. Professor in the Center for Human and
Clinical Genetics, Leiden University Medical Center, Leiden,
Nederland. He heads the "Leiden Genome Technology Center" (LGTC)
as well as the research group "Genome
Technology & Genetic Disease", focusing on research and diagnosis
of genetic disease, in particular of Duchenne/Becker and Limb-Girdle muscular
dystrophy.
A common theme in his work is
continuous improvement of diagnostic possibilities (more sensitive, faster,
cheaper) as well as disseminating the knowledge gained. Focusing on mutation
detection technologies and DNA diagnosis, Johan has been involved in the
development and implementation of several different technologies, amongst which
Pulsed-Field Gel Electrophoresis (PFGE),
the Protein Truncation Test (PTT),
exon-trapping,
Denaturing-Gradient Gel Electrophoresis (DGGE),
and most recently high-resolution Melting Curve Analysis (hrMCA) and
technologies to detect copy number variation (deletions and duplications) in
particular using Multiplex-Amplifiable Probe Hybridisation (MAPH),
Multiplex Ligation-dependent Probe Amplification (MLPA)
and whole-genome array-based quantitative SNP-typing. Recently his group
sequenced a complete female human genome, that of clinical geneticist Marjolein
Kriek. Applied to neuromuscular
disorders his group has a track record in sharing their (diagnostic) experiences
using the internet. Through the "Leiden
Muscular Dystrophy pages", initiated in 1995, all relevant information
in relation to the disease genes studied is displayed publicly. This information
includes e.g. gene-specific information, laboratory protocols for diagnosis and
>40 gene-specifc mutation databases.
Through this latter work Johan became involved in issues related to
the unequivocal description of sequence changes (mutation
nomenclature), guidelines for database content and software for web-based
curation and display of mutation databases (LSDBs). His group released
a freely available and open source software tool for this purpose, i.e. an LSDB-in-a-Box
package called LOVD.
Johan became actively involved in the HUGO
Mutation Database Initiative and from this the Human Genome Variation Society (HGVS).
He is particularly active on the subject of establishing world-wide accepted
rules for mutation nomenclature as well as mutation database standards (see HGVS-site). He is co-organiser of international mutation
detection courses and workshops with HUGO, as well as national workshops in SNP
& mutation detection and array technology.
Recent publications research group
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