Name:
Jan H Veldink
Department of Neurology and Neurosurgery
Setction Neuromuscular diseases
Function:
staff member
E-mail:
j.h.veldink@umcutrecht.nl Tel: +31 88 7555555
Pager: 1611
Research group:
Experimental Neurology, prof. L.H. van den Berg
Title research line:
Genetic and environmental determinants of hereditary and sporadic motor neuron diseases
Summary research:
The main topic of my research is focussed on genetic and environmental factors that modify the clinical expression of ALS/Motor Neuron Disease. I have set up a population-based ALS study (PAN) in the Netherlands, that is still ongoing. This study uses a capture-recapture methodology, and addresses several possible environmental risk factors, including nutrition, smoking, exposure to toxins, and physical activity.
During the past three years I have increasingly developed my skills regarding bioinformatics geared at genome-wide expression and genotyping studies. I worked at the department of Human Genetics and Department of
Biostatistics with Drs. Steve Horvath and Chiara Sabatti. With dr. Horvath I worked on weighted gene co-expression network analysis (WGCNA) and with dr. Chiara Sabatti on the development of a Hidden Markov algorithm to analyse copy number variation using genome-wide SNP data. This algorithm is now publicly available as a stand-alone C++ application. In addition, I am responsible for the analysis of a large genome-wide study in ALS including detection and correction for population-stratification, quality control, single SNP-based analysis, and haplotype-based analysis and copy number variation analysis. Since 2008, I work one day a week at the GBIC (Groningen Bioinformatics Centre), headed by prof. dr. Ritsert C. Jansen,in order to combine genome-wide expression and genotyping studies. Besides my work as neurologist at the department of Neurology, I advise other members of our department regarding the statistical and epidemiological analysis of their scientific work.
Publications:
Veldink JH, Blauw HM, van Es MA, et al. Copy-number variation in sporadic amyotrophic lateral sclerosis: A genome-wide screen. Lancet Neurol 2008;7:319-326.
Piepers S, Veldink JH, De Jong SW, et al. A randomised sequential trial of valproic acid in amyotrophic lateral sclerosis. Ann Neurol 2008; in press.
Van Es MA, Van Vught PW, Blauw HM, et al. Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis. Nat Genet 2008;40:29-31.
Wang H, Veldink JH, Ophoff RA, Sabatti C. Markov models for inferring copy number variation from genotype data on illumina platforms. Human Heredity 2008; in press.
Van Es MA, van Vught PW, Blauw HM, et al. ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: A genome-wide association study. Lancet Neurol 2007;6:869-877.