Leiden University Medical Center

Leiden University Medical Center

At the Leiden University Medical Centre (LUMC), we are continually seeking to improve the quality of healthcare. The LUMC aims for excellence in patient care, research, teaching, training and continuing education and has a long history in the field of neuromuscular disorders.

The research in the Center for Human and Clinical Genetics (http://www.humgen.nl) is aimed at the elucidation of molecular mechanisms of genetic diseases with a strong focus on DMD, BMD, LGMD and FSHD. The DNA diagnosis for these diseases in the Netherlands is performed at the Leiden Diagnostic Genome Analysis laboratory (http://www.lgtc.nl), which is part of the Center for Human and Clinical Genetics. The Department of Neurology has multidisciplinary polyclinics for neuromuscular disorder patients and is setting up the Dutch B/DMD patient registry (which feeds into the global TREAT-NMD database, see www.lumc.nl/duchenne for more information).

LUMC is the leader for work package 8.2 (Optimization of systemic delivery and improvement of quality and safety standards for treatment of patients with muscular dystrophies and spinal muscular atrophy). Main objectives of WP8.2 involve genotoxicity and in vivo toxicology studies, optimization of delivery methods, dose and treatment regimens and determination of the delivery efficiency required for therapeutic effect in animal models (improvement of muscle function and endurance).

The work performed by LUMC for this work package, mainly focuses on the development of a systemic delivery method for antisense oligonucleotides (AONs) as tools to induce exon skipping in Duchenne patients. This approach was pioneered by Judith van Deutekom at the Department of Human Genetics (Leiden University Medical Center, the Netherlands), Steve Wilton (University of Western Australia, Australia) and Masafumi Matsuo (Kobe University Graduate School of Medicine, Japan). The strategy aims to restore the disrupted dystrophin open reading frame in Duchenne patients to allow generation of partly functional, Becker-like proteins by hiding an exon from the splicing machinery with an AON (for more information see www.dmd.nl/gt). Proof of concept has been obtained in patient-derived cultured muscle cells and the mdx mouse model. In collaboration with Prosensa Therapeutics (Leiden, the Netherlands) a first clinical trial was performed at the Department of Neurology in 2006, which! showed local dystrophin restoration. Current trials performed by Prosensa and GSK focus on systemic administration and assessment of safety and efficacy in patients.

Albinusdreef 2


Website www.lumc.nl

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Annemieke Aartsma-Rus Annemieke Aartsma-Rus

Dr. Annemieke Aartsma-Rus is associate professor at the Department of Human Genetics and leader of the DMD genetic therapy group. She is currently Chair of the executive committee of the TREAT-NMD alliance and is a member of the Project Ethics Council and TACT Committee.

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Pietro Spitali Pietro Spitali

Pietro Spitali is a postdoc in the DMD Genetic Therapy Group at the Human Genetics Department (LUMC) since September 2010.

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Jan Verschuuren Jan Verschuuren

Jan Verschuuren is a neurologist and professor of Neuromuscular Disease at the LUMC. The main research topics of his group are Duchenne and Becker muscular dystrophy, myasthenia gravis and related disorders and inclusion body myositis. He is the clinical representative for the LUMC in TREAT-NMD, and president of the Dutch Neuromuscular Centre (www.ISNO.nl). Jan is chair of the TREAT-NMD Global Database Oversight Committee (TGDOC).

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Laura van Vliet

Laura van Vliet (BASc) started as a research technician in June 2007 and is involved in the generation of hDMD deletion mouse models. The deletion models would allow testing the therapeutic effect of human AONs in a mouse model.

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Maaike van Putten Maaike van Putten

Maaike van Putten (MSc) started as a PhD student in September 2007. Her project will focus on the assessment of the levels of exon skipping and dystrophin that are required for functional improvement in dystrophic mouse models.

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Gert-Jan van Ommen Gert-Jan van Ommen

Prof. Dr. Gert-Jan van Ommen is head of the Department of Human Genetics at the LUMC. Amongst others, he has supervised research on neuromuscular and neurodegenerative diseases (with a focus on Duchenne Muscular Dystrophy and Huntington Disease).

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Silvère van der Maarel Silvère van der Maarel

Prof. Dr. Silvère van der Maarel is Professor of Medical Epigenetics and head of the Department of Human Genetics of the Leiden University Medical Center. His research focus is on the (epigenetic) disease mechanisms underlying facioscapulohumeral muscular dystrophy (FSHD). Other research themes include oculopharyngeal muscular dystrophy (OPMD) and the limb girdle muscular dystrophies (LGMD). By means of intracellularly expressed antibody domains he aims to uncover disease mechanisms in muscular dystrophy.

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Janneke van den Bergen

Dr Janneke van den Bergen started working at the Department of Neurology in October 2007 as an AGIKO (Dutch term for physician who combines a PhD study with a neurological training).

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Peter-Bram ’t Hoen Peter-Bram ’t Hoen

Dr. Peter A.C. ’t Hoen is assistant professor in LUMC's Department of Human Genetics and leads the bioinformatics research group.

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Truus Overweg-Plandsoen

Dr Truus Overweg-Plandsoen is a child neurologist at the Department of Neurology of the LUMC. Under the umbrella of the ALADIN consortium she aims to standardize patient care in the Netherlands.

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Chiara Straathof

Dr Chiara Straathof is a neurologist/neuromyologist at the Department of Neurology of the LUMC.

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Ieke Ginjaar Ieke Ginjaar

The Laboratory for Diagnostic Genome Analysis (LDGA) Clinical Genetics in Leiden performs mutation analysis for many disorders nationally and internationally.

Dr. Ieke Ginjaar is a staff member at the Department of Clinical genetics. She is responsible for DNA/RNA and protein diagnostics of DMD/BMD and LGMD in the Netherlands.

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Christa de Winter Christa de Winter

Christa de Winter (BASc) has been working as a research technician on antisense-mediated exon skipping since November 2003.

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Johan  Den Dunnen Johan Den Dunnen

Johan den Dunnen (PhD) is professor in Medical Genomics and a staff member at the departments of Human and Clinical Genetics. He has a long-standing interest in research and diagnosis of DMD and introduced several diagnostic techniques, incl. pulsed-field gel-electrophoresis and the Protein Truncation Test.

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Egbert Bakker Egbert Bakker

Prof. Dr Bert Bakker, professor of Molecular genetics at the LUMC, leads the Laboratory for Diagnostic Genome Analysis (LDGA) at the department of Clinical Genetics.

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Hermien Kan

Hermien E. Kan is an associate professor of Radiology, working in the C.J. Gorter Center for high field MRI at the LUMC.

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