Call for participation in the neurogenetics consortium within the Human Variome Project
- 103 Downloads
The rate of DNA variation discovery has accelerated the need to collate, store and interpret the data in a standardised coherent way and is becoming a critical step in maximising the impact of discovery on the understanding and treatment of human disease. This particularly applies to the field of neurology as neurological function is impaired in many human disorders. Furthermore, the field of neurogenetics has been proven to show remarkably complex genotype-to-phenotype relationships. To facilitate the collection of DNA sequence variation pertaining to neurogenetic disorders, we have initiated the “Neurogenetics Consortium” under the umbrella of the Human Variome Project. The Consortium’s founding group consisted of basic researchers, clinicians, informaticians and database creators. This report outlines the strategic aims established at the preliminary meetings of the Neurogenetics Consortium and calls for the involvement of the wider neurogenetic community in enabling the development of this important resource.
KeywordsHuman Variome project Neurogenetics consortium Database Genetic variation Standardisation Phenotype
The authors are grateful to Rania Horaitis, Heather Howard and Lauren Martin for their assistance with the meeting organisation. Both meetings were supported by funds from the network REGENPSI from the Consellería de Educación, Xunta de Galicia (2009/019). Further support for the meeting came from the National Health and Medical Research Council, Australia. MJS received funding support from the Institute of Health Carlos III and from the European Funds for Regional Development (FEDER). The AlzGene database is supported by a grant from the Cure Alzheimer Fund (to L.B.). JKF is supported by the NIH (R01NS069700) and the Department of Veterans Affairs (Merit Review Award). FP is supported by the Spanish Ministry of Science and Innovation (SAF2009-07653), the European Comission, DG Research (7th Framework Programme, HEALTH-2009-2.4.4-1/242193), the Generalitat Valenciana (Prometeo 2009/051), Fundació Marató TV3 and the CIBERER, Instituto de Salud Carlos III. AH, HH, DLRR and MGS work was undertaken at UCLH/UCL who received a proportion of funding from the Department of Health’s NIHR Biomedical Research Centres funding scheme. HH has grant support from MRC UK. DRR is supported by an MRC Clinical Research Training Fellowship (G1000347) and by The Consortium for Clinical Investigation of Neurologic Channelopathies (CINCH) funded by the National Institute of Health. MC and KN were in part supported by the Special Research Fund of the University of Antwerp, The Research Foundation–Flanders (FWO); the Foundation for Alzheimer Research (SAO-FRMA); and the Interuniversity Attraction Poles (IAP) programme P6/43 of the Belgian Federal Science Policy Office, Belgium. MJF is supported by a Canada Excellence Research Chair.
- 1.Cotton RG, Appelbe W, Auerbach AD, Becker K, Bodmer W, Boone DJ, Boulyjenkov V, Brahmachari S, Brody L, Brookes A, Brown AF, Byers P, Cantu JM, Cassiman JJ, Claustres M, Concannon P, Cotton RG, den Dunnen JT, Flicek P, Gibbs R, Hall J, Hasler J, Katz M, Kwok PY, Laradi S, Lindblom A, Maglott D, Marsh S, Masimirembwa CM, Minoshima S, de Ramirez HZ, Scriver CR, Sherry S, Shimizu N, Shimizu N, Stein L, Tadmouri GO, Taylor G, Watson M (2007) Recommendations of the 2006 Human Variome Project Meeting. Nat Genet 39:433–436PubMedCrossRefGoogle Scholar
- 2.Kaput J, Cotton RG, Hardman L, Watson M, Al Aqeel AI, Al-Aama JY, Al-Mulla F, Alonso S, Aretz S, Auerbach AD, Bapat B, Bernstein IT, Bhak J, Bleoo SL, Blöcker H, Brenner SE, Burn J, Bustamante M, Calzone R, Cambon-Thomsen A, Cargill M, Carrera P, Cavedon L, Cho YS, Chung YJ, Claustres M, Cutting G, Dalgleish R, den Dunnen JT, Díaz C, Dobrowolski S, dos Santos MR, Ekong R, Flanagan SB, Flicek P, Furukawa Y, Genuardi M, Ghang H, Golubenko MV, Greenblatt MS, Hamosh A, Hancock JM, Hardison R, Harrison TM, Hoffmann R, Horaitis R, Howard HJ, Barash CI, Izagirre N, Jung J, Kojima T, Laradi S, Lee YS, Lee JY, Gil-da-Silva-Lopes VL, Macrae FA, Maglott D, Marafie MJ, Marsh SG, Matsubara Y, Messiaen LM, Möslein G, Netea MG, Norton ML, Oefner PJ, Oetting WS, O’Leary JC, de Ramirez AM, Paalman MH, Parboosingh J, Patrinos GP, Perozzi G, Phillips IR, Povey S, Prasad S, Qi M, Quin DJ, Ramesar RS, Richards CS, Savige J, Scheible DG, Scott RJ, Seminara D, Shephard EA, Sijmons RH, Smith TD, Sobrido MJ, Tanaka T, Tavtigian SV, Taylor GR, Teague J, Töpel T, Ullman-Cullere M, Utsunomiya J, van Kranen HJ, Vihinen M, Webb E, Weber TK, Yeager M, Yeom YI, Yim SH, Yoo HS, Contributors to the Human Variome Project Planning Meeting (2009) Planning the Human Variome Project: the Spain Report. Hum Mutat 30:496–510PubMedCrossRefGoogle Scholar
- 3.Cotton RG, Al Aqeel AI, Al-Mulla F, Carrera P, Claustres M, Ekong R, Hyland VJ, Macrae FA, Marafie MJ, Paalman MH, Patrinos GP, Qi M, Ramesar RS, Scott RJ, Sijmons RH, Sobrido MJ, Vihinen M, members of the Human Variome Project (2010) Data Collection from Clinics, Data Collection from Laboratories and Publication, Credit and Incentives Working Groups. Capturing all disease causing mutations for clinical and research use: towards an effortless system for the Human Variome Project. Genet Med 11:843–849CrossRefGoogle Scholar
- 4.Cotton RG, Auerbach AD, Axton M, Barash CI, Berkovic SF, Brookes AJ, Burn J, Cutting G, den Dunnen JT, Flicek P, Freimer N, Greenblatt MS, Howard HJ, Katz M, Macrae FA, Maglott D, Möslein G, Povey S, Ramesar RS, Richards CS, Seminara D, Smith TD, Sobrido MJ, Solbakk JH, Tanzi RE, Tavtigian SV, Taylor GR, Utsunomiya J, Watson M (2008) GENETICS. The Human Variome Project. Science 322:861–862PubMedCrossRefGoogle Scholar
- 7.Lill CM, McQueen MB, Roehr JT, Schjeide BMM, Zauft U, Bagade S, Zipp F, Bertram L. Schjeide BMM, McQueen MB, Bertram L (2010) The MSGene Database Systematic Meta-Analyses and Field Synopsis of Genetic Association Studies in Multiple Sclerosis Slide presentation at the 62nd Annual Meeting of the American Academy of Neurology, Toronto, Canada [S30.003]Google Scholar
- 8.Tuffery-Giraud S, Béroud C, Leturcq F, Yaou RB, Hamroun D, Michel-Calemard L, Moizard MP, Bernard R, Cossée M, Boisseau P, Blayau M, Creveaux I, Guiochon-Mantel A, de Martinville B, Philippe C, Monnier N, Bieth E, Khau Van Kien P, Desmet FO, Humbertclaude V, Kaplan JC, Chelly J, Claustres M (2009) Genotype–phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase. Hum Mutat 30:934–945PubMedCrossRefGoogle Scholar