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个人简介
As a research professional my aim is to understand the exact genetic contribution in every patient with ALS. I have a past performance with innovations both in the development of a custom reference panel that allowed the interrogation of rare genetic variation in a large sample of genotyped cases and controls (Van Rheenen et al., Nat Genet 2016), and the development of a tool that is near perfectly able to detect the C9orf72 repeat expansion in WGS data (Dolzhenko et al. Genome Res 2017). We have also just released an open access publication detailing the largest ALS GWAS as of 2021 (Van Rheenen et al., Nat Genet 2021, doi.org/10.1038/s41588-021-00973-1). This shows specific genetic overlap but also differences between neurodegenerative diseases, a prime role for glutamatergic neurons in the initiation of ALS, opposed to a role for immune cells in other diseases like Alzheimer's disease and a causal role for cholesterol. We also show that GWAS hits in ALS can indicate various underlying genetic pathology (i.e. rare repeat expansions, rare single nucleotide variations, or independent common genetic variation in or near rare variant ALS genes).
I am leading a large-scale international collaboration (Project MinE, www.projectmine.com). The project is in the process of whole-genome sequencing 15,000 ALS cases and 7,500 population-matched controls (with > 12,000 genomes completed by December 2017). This has already led to the identification of four new "ALS genes": TUBA4A, TBK1, C21orf2 and NEK1 (Kenna et al. Nat Genet 2016, Al-Chalabi et al. Nat Rev Neurology 2016). Upon completion, the project will have standardized phenotype information, whole- genome sequence data, SNP-array data, and methylation data for every sample. Also, the webbased database (https://progeny.umcutrecht.nl) I set up already contains detailed core clinical data and data on environmental exposures and lifestyle factors on thousands of international (Irish, Italian, Belgian, German, Dutch, Swiss, and British) samples that are part of Project MinE.
In 2018 he was awarded an ERC Consolidator grant from the EU.
研究兴趣
论文共 408 篇作者统计合作学者相似作者
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Gizem Taş, Timo Westerdijk,Eric Postma, Project MinE ALS GWAS Consortium
,Jan H Veldink,Alexander Schönhuth,Marleen Balvert
Maria M Zwartkruis,Martin G Elferink, Demi Gommers, Ilaria Signoria,Laura Blasco-Perez,Mar Costa-Roger, Joyce van der Sel,Ivo J Renkens, Jared W Green, Joris V Kortooms, Carlo Vermeulen, Roy Straver,
medrxiv(2024)
Ross P. Byrne,Wouter van Rheenen, Tomás DS Gomes,Ciarán M Kelly, Emrah Kaçar, Project MinE ALS GWAS Consortium, International ALS/FTD Genomics Consortium,Ahmad Al Khleifat,Alfredo Iacoangeli,Ammar Al-Chalabi,Jan H Veldink,Russell L McLaughlin
medrxiv(2024)
Calum Harvey, Marcel Weinreich, James A. K. Lee,Allan C. Shaw,Laura Ferraiuolo,Heather Mortiboys,Sai Zhang,Paul J. Hop,Ramona A. J. Zwamborn,Kristel van Eijk,Thomas H. Julian,Tobias Moll,
HELIYONno. 3 (2024): e24975-e24975
AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATIONno. 1-2 (2024): 188-196
Heather Marriott,Thomas P Spargo, Ahmad Al Khleifat,Peter M Andersen,Nazli A Başak,Johnathan Cooper-Knock, Philippe Corcia,Philippe Couratier,Mamede de Carvalho,Vivian Drory, Marc Gotkine,John E Landers,
Annals of clinical and translational neurologyno. 7 (2024): 1775-1786
crossref(2024)
Cerebral Circulation - Cognition and Behavior (2024): 100049
Nature geneticsno. 7 (2024): 1371-1376
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