Therapy development for rare disorders of the brain

Research Research programs Therapy development for rare disorders of the brain

Our purpose

We aim to develop, test and implement disease-modifying, mechanism-based interventions for a selected set of rare, genetic disorders of the brain in fully aligned preclinical to clinical pipelines. We will prioritize specific movement, neurodevelopmental, and neurometabolic disorders.

Goals

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

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Goals

Establish preclinical model system pipelines to identify and test candidate interventions.
Establish clinical and surrogate markers that serve as sensitive and relevant read-outs in clinical trials.
Perform preclinical and clinical proof-of-concept studies.
Build a public-private ecosystem for rare disease drug development with relevant internal and external stakeholders.

Research groups contributing to this research program

Bioinformatics

Peter-Bram 't Hoen's research group develops computational workflows for the integration of omics and clinical data to predict disease progression and identify drug repurposing candidates in myotonic dystrophy and other neuromuscular disorders.

Cellular bioenergetics

Werner Koopman's research group focuses on understanding cellular energy metabolism in the context of the mitochondrial (dys)function at multiple levels (organisms, tissues, cells, proteins, molecules), with the aim to develop intervention strategies.

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(s) for this research program

Spokesperson

prof. dr. Bart van de Warrenburg

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Spokesperson

prof. dr. Dirk Lefeber

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