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Clinical genetics

Distinguishes fundamental research to understand the mechanisms which cause hereditary diseases, translational research for a translation of knowledge and renewing technology.

About our Department

Our research

Background information

We use state of the art methods for studying hereditary monogenic and polygenic disorders. Next Generation Sequencing and functional studies play an important role in the unraveling of the diseases. For the functional genetics in vitro as well as in vivo models are used. We follow the most recent developments like the use of induced pluripotent stem cells (so-called iPS-cells) from isolated skin cells of patients. Widely applied animal models for the functional research are genetically modified mice and zebrafish. The functional work is performed in close cooperation with the Functional Unit of the Diagnostic section.

Overall aim

The overall aim is to understand the function of our genome and to identify causes of metabolic diseases, cancer, neurodevelopmental disorders, cardiovascular disorders and congenital malformations.

Research focus areas

The department Clinical Genetics performs innovative and high quality scientific research with a focus on three cornerstones:

  1. Neurogenetics.
  2. Genetics of congenital anomalies.
  3. Genetics of cardiovascular disorders.

Additional research lines include:

  • Human cancers (uveal melanoma).
  • Lynch Syndrome.
  • Breast cancer.
  • Psychological aspects of prenatal genetic testing.
  • Non Invasive Prenatal Testing (NIPT).

Principal Investigators

Research lines

Adult Congenital Heart Disease

Research on adults with congenital heart disease, aortic pathology, pulmonary hypertension and pregnancy in women with cardiac disease.

Barakat lab: Non-Coding Genome in Clinical Genetics

Our team focusses on deciphering the role of the non-coding genome in neurodevelopmental disorders and human embryonic stem cells

Functional Genetics Unit

We generate new diagnostically validated assays and use these to assist in improving diagnosing of a wide range of genetic disorders.

GI-Genetics Hirschsprung disease (HSCR)

Which genetic factors determine the development of the gastrointestinal (GI) tract, and how do these genetic factors contribute to disease development?

Hereditary Gastrointestinal Tumors

Our group has a long-standing interest in the diagnostics and clinical management of hereditary gastrointestinal tumors

Macrophages in the healthy and diseased brain

Mutations in genes important for microglia, the brain’s macrophages, can predispose to brain diseases such as Alzheimer’s. The underlying mechanisms are largely unknown.

Molecular Mechanisms of Movement Disorders

We focus on finding genes involved in Parkinson’s disease and other movement disorders, as a key to understand the molecular mechanisms of these diseases.

Molecular stem cell biology of lysosomal storage diseases

Lysosomal storage diseases are rare genetic disorders caused by a deficiency of metabolic enzymes. This results in accumulation of metabolic products throughout the body, affecting multiple organs and tissues.

Myopia (nearsightedness)

Our research groups investigates how a complex interplay between genetic and environmental factors leads to high myopia and how this can be prevented.

Polycystic Ovary Syndrome (PCOS)

Polycystic ovary syndrome (PCOS) is a common endocrine disorder that affects 8-13% of women in their reproductive years. Our research group is addressing many different aspects of this disorder, such as ageing, cardiovascular health, sexual dysfunction, gene interaction, lifestyle and depression.

Van Ham Lab - Glial mechanisms in genetic brain disease

Our aim is to improve the understanding of cellular mechanisms underlying genetic brain diseases, primarily the role of glia cells, to improve diagnosis and ultimately treatment options.


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