Jan Veldink

Jan Veldink

Prof. Jan Veldink

  • neuromuscular disorders
  • genetic risks
  • environmental risks
+31 88 75 57939


Jan Veldink obtained his PhD in 2004 on environmental and genetic risk factors of Amyotrophic Lateral Sclerosis (ALS.) He carried out post-doctoral work at UCLA, Los Angeles, developing an algorithm to detect copy number variation in genome-wide SNP data and working on weighted gene co-expression network analysis. Since then he combined clinical work with the supervision of 10 PhD students who finished their thesis (two cum laude).  Since 2008 he has a fixed position as a clinical neurologist in the UMC Utrecht. He was appointed associate professor in 2011 in neurogenetics and professor of neurology and neurogenetics in June 2014. In 2015, he supervises 7 PhD students and three post-docs.

Jan Veldink thinks that the challenges we are faced with in modern day neurogenetics need an integrative approach. The classical approach of linkage and candidate gene studies is clearly insufficient to provide new answers to these many complex genetic disorders. Instead, a unique combination is needed of i) detailed clinical phenotyping, ii) hands-on expertise on biobanking and databasing, iii) state of the art expertise in bioinformatics and analysis of large datasets, and iv) finally the international connection to many consortia.

Jan Veldink has established a research line on ALS genetics, epidemiology and transcriptomics with a proven track record in both array-based and sequencing technology. His expertise in these fields receives international recognition. The combined expertise in clinical neurology with high-performance computing, bioinformatics and epidemiology is unique. He has established national and international collaborations through several granted FP7/ European projects, which greatly facilitates addressing these objectives in large patient cohorts. Also, he managed to establish a US HIPAA compliant international biobanking register and patient database, enabling the querying of ALS pathology material, clinical and life-style questionnaire data in an international context. Since 2014, he is leading the ongoing analyses of the increasing volume of sequencing data in Project MinE (www.projectmine.com). He supervises several teaching courses on neurogenetics within the Master’s and Bachelor’s programs of the Graduate School of Life Sciences of the Utrecht University in the Netherlands.

His work has been published in > 150 publications with several papers in Nature Genetics, New England Journal of Medicine, Lancet Neurology and Human Molecular Genetics.

Research line and group

Research line
Neurogenetics and epidemiology
Number of PhD students
Number of postdocs

Personal fellowships and awards

  • Brainfoundation Personal Fellowship grant “Copy number variation detection in ALS”, 2007
  • FP7 grant: Euro-MOTOR European multidisciplinary ALS network identification to cure motor neuron degeneration. (co-coordinator), 2010
  • Thierry Latran grant: Functional characterization of two novel susceptibility loci in sporadic ALS, 2010
  • International Young Investigator ENCALS award, 2011
  • E-Rare-2 Call "European Research Projects on Rare Diseases driven by Young Investigators": PYRAMID (PhenotYpe Research for ALS ModIfyer Discovery), coordinator, 2012/13

Most recent key publications

  • Van Rheenen W. Diekstra F.P.,……., Veldink JH. Are CDHCD10 mutations indeed associated with familial amyotrophic lateral sclerosis? Brain 2014, accepted for publication. IF = 9.9 In this paper, I show that many genetic claims in ALS cannot be backed up by solid genetic evidence such as true segregation in families, where both affected and unaffected subjects are tested, or genome/exome wide significant associations in well-powered cohorts also including patients from pedigrees with more than one person affected with ALS/FTD
  • Diekstra FP, Van Deerlin VM, ……., Veldink JH. C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: A genome-wide meta-analysis. Ann Neurol 2014. IF = 11.2 This is the first step toward a combined analysis of FTD and ALS, by meta-analyzing ALS data with a relatively small sample of pathology proven TDP-43 FTD patients.
  • Blauw HM, van Rheenen W, ………, van den Berg LH, Veldink JH. NIPA1 polyalanine repeat expansions are associated with amyotrophic lateral sclerosis. Hum Mol Genet. 2012 Jun 1;21(11):2497-502. IF = 7.7 In this paper, I showed, with a specifically desiged fragment length analysis, that NIPA1 repeat expansions have a role in ALS. There is a growing body of evidence that repeat expansions are crucial in ALS (C9orf72, ATXN2).
  • Blauw HM, Al-Chalabi A, ………, Veldink JH. A large genome scan for rare CNVs in amyotrophic lateral sclerosis. Hum Mol Genet. 2010 1;21(17):3776-84. IF = 7.7 This was the first genome-wide copy number analysis of ALS, for which I trained for at UCLA, Los Angeles during my 6 months stay there. This study directed us toward the NIPA1 locus.
  • Veldink JH, Van Es MA, ………, Ophoff RA, van den Berg LH. Genome-wide association study identifies 19p13.3 UNC13A and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis. Nat Genet. 2009 Oct;41(10):1083-7. IF = 35.2