Jan Veldink

Jan Veldink is a Full Professor at UMC Utrecht, leading groundbreaking research in Neurogenetics focused on understanding the genetic and environmental causes of amyotrophic lateral sclerosis (ALS) and related motor neuron diseases (MND). His work emphasizes the development of tools for rare genetic variation detection and international collaboration through Project MinE, aiming to whole-genome sequence 15,000 ALS cases and 7,500 controls.

• Key Contributions:
  • Created a custom reference panel for rare variant analysis (Van Rheenen et al., Nat Genet 2016)
  • Developed a near-perfect tool for detecting C9orf72 repeat expansions in whole-genome sequencing (WGS) data

Research Trends: His recent publications highlight interdisciplinary approaches combining genetics, clinical neuroscience, and bioinformatics to address ALS heterogeneity, epigenetic biomarkers, and real-world treatment outcomes.

Scientific Awards:

• Brainfoundation Personal Fellowship (2007)
• FP7 Euro-MOTOR grant (co-coordinator, 2010)
• Thierry Latran grant (2010)
• International Young Investigator ENCALS award (2011)
• E-Rare-2 Call funding