Department

Human Genetics

The department of Human Genetics is a broadly oriented research department which focusses on the (epi)genomic contribution to inherited and acquired diseases. The department has a translational focus in which basic scientific findings are translated into clinical relevance. It has longstanding and intense collaborations worldwide.
Education
Research

The Human Genetics department is a broadly oriented research department, zooming in on the (epi)genetic aspects of monogenous, multifactorial, and acquired diseases. Translating basic scientific findings into clinical relevance is pivotal to the department’s translational focus.

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

Research programmes

The department’s organizational structure is based on biological themes, interconnected by common technological and biological approaches.

The main areas of interest are:

  • Neuromuscular and neurological genetics (muscle dystrophies, neurodegenerative diseases, migraine);
  • Oncogenetics (breast and bowel cancer, paragangliomas);
  • Genomic instability, toxicogenomics, DNA-damage and mutagenesis;
  • Immunogenetics; epigenetics (repeats, primary immunodeficiencies, cancer);
  • Population genetics (including forensic genetics and archaeogenetics);
  • Metabolic genetics;
  • Developmental genetics, especially renal diseases.

The department’s organizational structure is based on biological themes, interconnected by common technological and biological approaches.

The main areas of interest are:

  • Neuromuscular and neurological genetics (muscle dystrophies, neurodegenerative diseases, migraine);
  • Oncogenetics (breast and bowel cancer, paragangliomas);
  • Genomic instability, toxicogenomics, DNA-damage and mutagenesis;
  • Immunogenetics; epigenetics (repeats, primary immunodeficiencies, cancer);
  • Population genetics (including forensic genetics and archaeogenetics);
  • Metabolic genetics;
  • Developmental genetics, especially renal diseases.

The connecting technologies are:

  • Genome technology (genomics and transcriptomics);
  • Bioinformatics and biosemantics;
  • Genetic therapy;
  • Animal models;
  • Biobanking.

Research performed in the department is clustered in four LUMC research programmes and is host to several Technology Platforms and Facilities. Click on the links below for more information about the research programmes, the individual research groups and the Technology Platforms and Facilities.

The department is host to many PhD students from all around the world. The staff members provides education within the fields of Medicine  and Biomedical Sciences and contribute to postgraduate and extra-curricular education both within and outside the LUMC.

Patient care is not carried out directly by the department. Patient-related tasks, often of a diagnostic nature, are largely carried out through close collaboration with Clinical Genetics and other departments within the LUMC.

About the department

Contact

Address

LUMC – Human Genetics
Postzone S-4-P
Postbus 9600
2300 RC Leiden

Visiting address

Einthovenweg 20
2333 ZC Leiden

Secretariat

E-mail: humgen@lumc.nl
Phone: 071 526 94 00
Location: S-4-P

Team

Head of department: Prof.dr.ir. Silvère M. van der Maarel

Mrs. Majella E. Bak, management assistant
Assistant for the head of department, Prof.dr.ir. Silvère M. van der Maarel
Phone: 071 526 94 19
E-mail: M.E.Bak@lumc.nl

Mrs. Ingrid Braxhoven, management assistant
Phone: +31 (0)71 5269601
E-mail: I.Braxhoven@lumc.nl

Mrs. Anita W. Remmelzwaal, secretary
Phone: 071 526 94 51
E-mail: A.W.Remmelzwaal@lumc.nl

Mrs. Els M. Natzijl-Visser, secretary
Phone: 071 526 94 06
E-mail: E.M.Natzijl-Visser@lumc.nl

Mrs. Jane S. Pleging-Veale, assistant
Phone: 071 526 94 03
E-mail: J.S.Pleging-Veale@lumc.nl

Education coordination
Mrs. Dr. Madeleine J.M. Nivard
Phone: 071 526 96 05
E-mail: M.J.M.Nivard@lumc.nl
Office: T-4-34

Advisor Human Genetics 
Mrs. Ing. Sophie Greve
Phone: 071 526 95 51
E-mail: S.Greve@lumc.nl
Office: S-4-44

Science committee Human Genetics 
Mrs. Dr. Lucia Clemens-Daxinger
E-mail: L.Clemens-Daxinger@lumc.nl