@article{6eba7beabbf349b99d6c79e4911ea4ad,
title = "Call for participation in the neurogenetics consortium within the Human Variome Project",
abstract = "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.",
keywords = "Database, Genetic variation, Human Variome Project, Neurogenetics consortium, Phenotype, Standardisation",
author = "Andrea Haworth and Lars Bertram and Paola Carrera and Elson, {Joanna L.} and Braastad, {Corey D.} and Cox, {Diane W.} and Marc Cruts and {Den Dunnen}, {Johann T.} and Farrer, {Matthew J.} and Fink, {John K.} and Hamed, {Sherifa A.} and Henry Houlden and Johnson, {Dennis R.} and Karen Nuytemans and Francesc Palau and Rayan, {Dipa L.Raja} and Robinson, {Peter N.} and Antonio Salas and Birgitt Sch{\"u}le and Sweeney, {Mary G.} and Woods, {Michael O.} and Jorge Amigo and Cotton, {Richard G.H.} and Sobrido, {Maria Jesus}",
note = "Funding Information: 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 Conseller{\'i}a de Educaci{\'o}n, 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), Fundaci{\'o} Marat{\'o} 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{\textquoteright}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.",
year = "2011",
month = aug,
doi = "10.1007/s10048-011-0287-4",
language = "English (US)",
volume = "12",
pages = "169--173",
journal = "Neurogenetics",
issn = "1364-6745",
publisher = "Springer Verlag",
number = "3",
}