Genomics of rare disease

Research Research programs Genomics of rare disease

Our mission

We aim to enhance understanding and diagnostics through comprehensive data sharing, the use of advanced genomic technologies and the functional interpretation of genetic variation.

Goals

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

Listen

Goals

To gain access to cohorts with comprehensive genetic and phenotypic datasets.
To develop new and improved genetic technologies.
To gain understanding of genetic variation and mechanisms of disease.
To translate discoveries to patients’ life and clinical practice.

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

contact form

Spokesperson

prof. dr. Alexander Hoischen

contact form