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 Disease	Facioscapulohumeral Muscular Dystrophy (FSHD)	Muscle Ageing and Oculopharyngeal Muscular Dystrophy (OPMD)
Duchenne Muscular Dystrophy (DMD)	Functional and molecular neurogenetics of paroxysmal neurological brain disorders	Polyglutamine disorders
Myasthenia gravis and neuromuscular autoimmune diseases

Human Genetics 2 - Genome Instability and Cancer

Chromatin and DNA repair	DNA replication and responses to DNA damage	Tumor Genetics
DNA damage responses and cancer	Genome stability	Regulation and Dynamics of Nucleotide Excision Repair (NER)
DNA recombination and cancer

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

Bioinformatics	Developmental Epigenomics	Population Genetics
BioSemantics	Genetic basis of genome instability

Human Genetics 4 - Functional Genomics of Systemic Disorders

Molecular basis of inherited kidney disorders and tissue regeneration

Genetics and Systems Biology of the Metabolic Syndrome

Kidney Development, Disease and Regenerative Medicine

Technology Platforms and Facilities

Genomics (LGTC)	Bioinformatics	Forensic 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.