Human and Clinical Genetics, LUMC

Student research training

(last modified July 25, 2002)

Contents

• Introduction
• Research subjects

Introduction

In the Center for Human and Clinical Genetics we aim to elucidate the molecular and clinical etiology of hereditary disease, congenital malformations, multifactorial disorders and hereditary cancers, in order to improve diagnostics, assist counseling, develop treatments and further prevention.

Our research covers all aspects from genomics to clinical studies, complemented by animal model studies, ranging from mice to the nematode C.elegans.

• A great variety of technologies/methodologies are being used like: Genome scans, linkage/association analysis, cloning sequencing, mutation detection, fluorescent in situ hybridisation (FISH), Immune histochemistry/ -biochemistry/ -cytology, adenoviral transfection, in vitro differentiation DNA chip and micro-array technology (expression profiling, mutation detection, array CGH), knock-out/knock-in homologous recombination, conditional (cre-lox) transgenics.
• Etiological studies aim at neuromuscular and neurological disorders, polycystic kidney disease, hemoglobinopathies, developmental disorders, (risk) factors in migraine, epilepsy and cardiovascular disease.
• Cancer genetics covers breast, colon, skin cancer.
• Immunogenetics focusses on the role of the family of receptors for IgG, FcyR, in fundamental and pathogeneic processes, in vivo.
• Molecular population genetics focusses on population diversity and stratification and hosts the DNA forensics contra-expertise lab for the Dutch Ministry of Justice .

Research groups

• Research groups
  • Cardiovascular Research
    • genetics of cardiovascular disease
    • generation and analysis of mouse models
    • gene discovery using mouse models
  • Genome Technology and Genetic Disease
    • Duchenne/Becker Muscular Dystrophy  (DMD / BMD)
    • Limb-Girdle Muscular Dystrophy  (LGMD)
    • application of micro-arrays and chips
    • BioInformatics
    • Huntington's disease  (HD)
    • technology development  (LGTC)
    • the Leiden Muscular Dystrophy pages  -  LOVD &mutation databases
    • protein/antibody arrays
  • Genetics of breast cancer and paraganglioma
    • genetic heterogeneity in breast cancer
    • mutation mechanisms in BRCA1 and BRCA2
    • hereditary paraganglioma
  • Facioscapulohumeral muscular dystrophy (FSHD)
  • Headache Research
  • Immunogenetics and Transgenesis
  • Polycystic kidney disease (ADPKD)
  • Rubinstein-Taybi Syndrome (RTS)

Center for Human and Clinical Genetics
Leiden University Medical Center
Einthovenweg 20
2333 ZC LEIDEN
the Netherlands
Tel: +31 - 71 - 526 9400 / Fax: +31 - 71 - 526 8285
E-mail: humgen @ lumc.nl

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