Understanding Neuromuscular Disorders

Wet Lab

Biomarkers

We work on the identification of biomarkers in patients and animal models. We study how molecular signatures in body fluids can predict clinically meaningful milestones. This work includes development of quantitative lab methods, statistical modeling and omics data integration.

This work is done in collaboration with the teams of Dr. Erik Niks and Dr. Hermien Kan.

Spatial Biology

We investigate how omic signatures relate to histological observations in skeletal muscle and brain. This allows us to link biomarkers signatures to changes in tissue morphology (e.g. muscle fibrosis) and understand which cell types are involved by integrating single cell and spatial data.

This work is done in collaboration with the team of Dr. Ahmed Mahfouz.

RNA Biology

We aim to understand the regulation of neuromuscular genes. By studying transcriptional dynamics and RNA binding proteins we aim to better understand how neuromuscular genes are regulated and improve RNA targeting therapies.

This work is done in collaboration the team of Prof. Annemieke Aartsma-Rus.

Dry Lab

Mapping dystrophin in brain

We use omic data to map dystrophin in brain and to understand the link with behavioural and structural phenotypes observed in dystrophinopathies.

This work is done in collaboration with Dr. Maaike van Putten, and Dr. Aurelie Goyenvalle.

Knowledge Graphs

We use knowledge graphs such as structured reviews to harvest previous knowledge from databases. We put our wet lab data in perspective by integrating new data with previous knowledge across different disciplines such as omic, clinical and behavioural data.

This work is done in collaboration with the BioSematincs group of Dr. Marco Roos.

Methods for Statistical Analysis

We develop new statistical tools matching our clinical and biological questions. We focus especially on modeling of biomarkers and clinical data in longitudinal studies with the aim to identify association and predict relevant disease milestones.

This work is done in collaboration with the team of Dr. Roula Tsonaka.

Latest Research

Biomarkers

van de Velde et al, Neurology, 2023

Spatial Biology

Heezen et al, Nat. Commun. 2023

RNA Biology

Bizot et al, Mol Ther Nucl Acids, 2022

Funding