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Department

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).
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Lead Researchers

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

Brosens Lab - Brosens Kilic Lab

We study tumor (predisposition) genomics and eye cancer, focusing on biomarkers, minimally invasive diagnostics and data-driven care for (hereditary) cancer.

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

Optimizing detection and prevention of hereditary gastrointestinal tumors.

Molecular Mechanisms of Movement Disorders

We focus on finding genes involved in Parkinson’s disease (PD) and related neurodegenerative disorders (PD-dementia, Dementia with Lewy bodies), as well as other movement disorders (dystonia, neurodegeneration with brain metal accumulations), with the overarching aim to illuminate the disease mechanisms and identify novel targets for disease-modifying therapies.

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.

Oncogenetic research group

We study tumor (predisposition) genomics focusing on prevention, biomarkers, minimally invasive diagnostics and data-driven care for (hereditary) cancer.

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.

Prenatal Genomics

A multidisciplinary research team based in Rotterdam, specializing in clinical genetics and prenatal diagnostics. The team is recognized for its pioneering work in implementing advanced genomic technologies - such as SNP arrays, non-invasive prenatal testing (NIPT), and whole exome sequencing (WES) - into routine prenatal care.

Targeted treatments for rare genetic neurodevelopmental disorders

Our research is focused on: (1) diagnosing, (2) unraveling the molecular mechanisms, and (3) developing targeted treatments for rare genetic neurodevelopmental disorders

Translational and functional genomics

We optimize genomic medicine for patients by developing, validating and translating novel tools and innovative genetic technologies.

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.

Projects

C9orf72 dna streng

Amyotrophic lateral sclerosis (ALS) and frontaltemporal dementia (FTD)

Both ALS and FTD can result from a GGGGCC repeat expansion in the C9orf72 gene. While normally the repeat is present 2-8X, in ALS/FTD patients it can be expanded 100x to 4000x.

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Bicuspid Aortic Valve (BAV) study

This study is a clinical and genetic study to unravel biomarker and imaging predictors of adverse outcome and to explore the pathogenetic basis of bicuspid aortic valves.

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Data management Program KGEN

Driving innovation in clinical genetics with FAIR data management, AI, and collaboration for better patient care and research excellence.

Effects and health economic aspects of enzyme therapy with Pompe disease

Our aim is to investigate the long-term effects of enzyme-replacement therapy in children and adults with Pompe disease, and to define predictive factors for a favorable outcome.

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EVICT Precision Oncology for Peri- Ocular Cancers

Our team uses advanced molecular profiling and model systems to improve diagnosis, risk assessment, and treatment of rare (peri-) ocular cancers.

FragileX

Fragile X syndrome

Fragile X syndrome is the leading monogenic cause of intellectual disability and autism.

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INSPIRE

INSPIRE: Advancing hereditary cancer care through genomics, cellular modeling and risk stratification.

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Minimally Invasive Uveal Melanoma Risk Stratification and Monitoring

Improving Uveal Melanoma patient care with minimally invasive blood biomarkers and imaging for early detection, prognosis, and personalized treatment.

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NESTOR and ERN-GENTURIS registries

Hereditary cancer registries combine clinical and genetic data to boosting research, better treatment, and prevention in the Netherlands and Europe.

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Tracheoesophageal and Rare Anomalies Cancer Evolution and Risk

Our team studies how esophageal birth defects form and if they result in a predisposition to develop cancer in adulthood.

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Understanding intestinal smooth muscle contraction

Smooth muscle contraction is important for the functioning of the gastrointestinal tract, but is impaired in several congenital intestinal disorders.

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