Research

The department of Human Genetics is a broadly oriented research department with focus on the (epi)genomic contribution to inherited and acquired diseases. The department is led by prof.dr. Silvère van der Maarel.

Research Programmes

Research performed in the department is clustered in four LUMC research programmes:

Human Genetics 1 - Functional Genomics of Muscle, Nerve and Brain Disorders

Alzheimer's DiseaseFacioscapulohumeral Muscular Dystrophy (FSHD)Muscle Ageing and Oculopharyngeal Muscular Dystrophy (OPMD)
Duchenne Muscular Dystrophy (DMD)Functional and molecular neurogenetics of paroxysmal neurological brain disordersPolyglutamine disorders
   

Human Genetics 2 - Genome Instability and Cancer

Chromatin and DNA repairDNA replication and responses to DNA damageTumor Genetics
DNA damage responses and cancerGenome stabilityRegulation and Dynamics of Nucleotide Excision Repair (NER)

Human Genetics 3 - Molecular Technology and Informatics for Personalised Medicine and Health

BioinformaticsDevelopmental EpigenomicsPopulation Genetics
BioSemanticsGenetic basis of genome instability 

Human Genetics 4 - Functional Genomics of Systemic Disorders

Developmental GeneticsGenetics and Systems Biology of the Metabolic SyndromeKidney Development, Disease and Regenerative Medicine

Technology Platforms and Facilities

Genomics (LGTC)BioinformaticsForensic Laboratory for DNA Research (FLDO)
Genetically Modified Mouse Technology Platform  

The department actively participates in the LUMC Medical Research Profiles :

  • Biomedical Research Profiles:Translational Neurosciences, Cancer Pathogenesis and Therapy, Vascular and Regenerative medicine
  • Generic Research Profiles: Ageing, Innovation in Health Strategy and Quality of Care, Biomedical Imaging

The department has longstanding and intense collaborations worldwide. Principle investigators of Human Genetics are involved as coordinator of or participant in several national and international initiatives.