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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.


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Research Research programs Genomics of 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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Research groups contributing to this research program

Blindness genetics and transcriptomics

Susanne Roosing's research group resides in the field of inherited retinal disease gene discovery. Using state of the art short and long reach sequencing approaches her team uncovers new genetic causes underlying retinal disease.

Cancer genomics

Richarda de Voer's research group focuses on the genetic predispositions and mutational processes that underly cancer development, especially in the context of development at an early age in Iife and concerning the development of multiple primary tumors throughout the life of a single individual.

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.

Spokesperson

prof. dr. Lisenka Vissers

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Spokesperson

prof. dr. Alexander Hoischen

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