Genomics of undiagnosed rare disease

Research Research programs Genomics of undiagnosed rare disease

Our purpose

We aim to increase accessibility to unsolved rare disease cohorts with comprehensive genetic and phenotypic data for systematic reanalysis of existing data, and generation of new data.

Goals

See some of the most important goals for this research program.

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Goals

Aim 1: Accessibility to unsolved RD cohorts with comprehensive genetic and phenotypic data for systematic reanalysis of existing data, and generation of new data.
Aim 2: New and improved genetic technologies for the assessing the DNA of unsolved RD patients.
Aim 3: Improving our understanding of genetic variation in RD patients.
Aim 4: Translate discoveries to patients’ life and clinical practice.

Research groups contributing to this research program

Clinical genetics of intellectual disability

Bert de Vries's research group focuses on the identification of novel genes involved in neurodevelopmental disorders such as intellectual disability and autism spectrum disorder, and the clinical characterization of those novel genetic syndromes.

Genetic diversity

Hieab Adams's research group studies how this complex puzzle of genetic and non-genetic factors is linked to health.

Genomic technologies for immune-mediated and infectious diseases

Alexander Hoischen's research group focuses on the application of the latest genomic technologies to understand human disease. A particular emphasis is put on the understanding of genetic defects that explain rare disease specifically immune diseases, such as inborn errors of immunity (IEIs).

Spokesperson

prof. dr. Lisenka Vissers

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Spokesperson

prof. dr. Alexander Hoischen

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