I am professor of Bioinformatics at Radboud university medical center, department of Medical BioSciences. As creative bioinformatician with training in molecular biology and pharmaceutical sciences, I excel in the translation of biomedical problems into statistical and computational solutions. I have a strong track record in methodology and technology development, both in the laboratory and at the computer. My group develops statistical and knowledge-driven data integration approaches to discover sets of diagnostic and prognostic biomarkers to be used in personalised medicine, with a strong emphasis on myotonic dystrophy (DM1) research and innovation.

I led the eRARE-funded ReCognitION EU consortium focussing on the identification of drug repurposing candidates for DM1. Under my leadership, the Horizon Europe-funded SIMPATHIC project has started in July 2023, with an ambition to accelerate the drug repurposing pathway for neurological, neurometabolic and neuromuscular disorders (including DM1). I am the coordinator of a ZON-MW-funded project investigating the molecular, cellular and clinical heterogeneity in DM1.

From their conception, I am dedicated to operationalizing the FAIR data and open science principles, as they facilitate the interpretation of in-house data (such as those from patient samples) in the context of external data sources. I am actively contributing to national (HealthRI and X-omics) and international (e.g. European Rare Disease Research Alliance (ERDERA) and EATRIS) health data infrastructures and neuromuscular patient registries (e.g. MYODRAFT, EURO-NMD registry)

Research Line 1: Development of prediction models for disease progression

Summary: DM is a slowly progressive, heterogeneous disorder. Our goal is to develop a prediction model for disease progression in individual patients. This would help patients planning their future, but also advance clinical trial design. For example, through refining inclusion criteria or modeling of personalised baselines. The prediction model will be based on the longitudinal collection of clinical and molecular biomarker data in natural history studies and clinical trials.

Research Center: Radboudumc, MUMC+

Diseases: Myotonic dystrophy type 1 and 2

Experts involved: Daniël van As (PhD student), Sylvia Nieuwenhuis (PhD student), Leandre la Fontaine (PhD student, MUMC+), Karlien Mul (neurologist), Karin Faber (neurologist, MUMC+)

Research line 2: Understanding disease heterogeneity and testing individual responses to drugs

Summary: We are evaluating whether induced pluripotent stem cell-derived disease models reflect the clinical heterogeneity seen in patients. We are investigating the contribution of somatic repeat instability to the observed heterogeneity and the roles of other disease modifiers. Through molecular omics profiling, we identify druggable pathways, drug repurposing candidates and biomarkers that reflect the activity of those pathways. The ultimate goal is to find drugs that can treat the symptoms that are most debilitating for individual patients.

Research Center: Radboudumc, MUMC+, University of Glasgow

Diseases: Myotonic dystrophy type 1 and 2

Experts involved: Thomas Hoekman (PhD student), Lotte Put (PhD student, MUMC+), Vedrana Stefanic (PhD student), Siqi Wei (PhD student), Rick Wansink (cell biologist), cHans van Bokhoven (geneticist), Nael Nadif Kasri (neuroscientist), Karlien Mul (neurologist), Karin Faber (neurologist, MUMC+), Darren Monckton (geneticist, University of Glasgow)