Department

Clinical genetics

Driving genetic science forward, from research and clinical practice to therapies and public engagement.

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Clinical genetics

About our Department

Our research

About us
The Department of Clinical Genetics at Erasmus MC is a leading center for research, diagnostics, education and innovation in genetic disorders. Scientific excellence and clinical expertise are combined to advance genomic medicine and improve patient outcomes.

Research focus areas
Our work spans a broad spectrum of genetic research, with four core lines:

> Genomics and Mechanism of Brain Disorders
> Genomics and Mechanism of Rare Systemic Disorders
> Translational & Functional Genomics
> Prevention and (Genetic) Therapies

We focus on rare diseases, which collectively affect up to 10% of the population. Our research addresses neurodevelopmental and metabolic disorders, congenital anomalies, neurological and cardiological conditions, and rare and inherited cancer. Using genome analysis, deep phenotyping, and functional assays in cellular and in vivo models, we uncover the molecular and cellular mechanisms underlying these conditions. This knowledge drives the development of targeted therapies, including gene therapy, cell therapy, and antisense oligonucleotide (ASO) approaches.

Technologies
Our department has implemented the integration of whole-exome sequencing, RNA sequencing, and both short- and long-read whole-genome sequencing into routine diagnostics. Our translational methodologies include a diverse array of ‘omic’ technologies, including metabolomics, transcriptomics, methylomics and proteomics. These approaches are instrumental in diagnosing genetic diseases, biomarker discovery, and elucidating disease mechanisms. Analytical and interpretative processes are supported by advanced computational biology approaches, including deep-learning and other AI-driven approaches.

Education and public engagement
We are also strongly committed to education and public engagement. Our research master’s program Genomics in Society, explores the societal dimensions of genetics, and we collaborate with industry to promote equitable access to advanced therapy medicinal products through the ‘Academic Pharma’ model.

Our team
Our team is multidisciplinary, diverse, and driven. We bring together clinicians, researchers, and educators—many of whom are young leaders in their field—to work collaboratively across disciplines. Guided by Rotterdam’s direct and determined mindset, we focus on turning scientific insights into practical clinical solutions for our patients.

Our ambition
Our ambition is clear: consolidating our position as a world-leading genomic medical center and integrating cutting-edge research and compassionate care for individuals with genetic diseases.

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.

Advancing 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.

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

Cardiogenetics

Our research focuses on the clinical and genetic aspects of cardiovascular diseases - specifically cardiomyopathies and aortic aneurysms - to improve diagnostics and treatment.

Functional Genetics Unit

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

Gastrointestinal (GI) Genetics group

The GI Genetics Group studies genetic and molecular drivers of congenital intestinal diseases to advance diagnosis and develop better treatments.

Genomics in Society

The Genomics in Society research group explores the societal, ethical, and communicative dimensions of genetics. We focus on public dialogue, patient perspectives, and the responsible use of genetic knowledge.

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.

Ophthalmogenetics

We study the genetic basis, natural history, and clinical management of heritable eye diseases, specifically myopia and inherited retinal diseases to improve patient outcomes.

(peri-) ocular cancer & cancer predisposition

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

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.