neurogenetics

, Volume 12, Issue 3, pp 169–173

Call for participation in the neurogenetics consortium within the Human Variome Project

  • Andrea Haworth
  • Lars Bertram
  • Paola Carrera
  • Joanna L. Elson
  • Corey D. Braastad
  • Diane W. Cox
  • Marc Cruts
  • Johann T. den Dunnen
  • Matthew J. Farrer
  • John K. Fink
  • Sherifa A. Hamed
  • Henry Houlden
  • Dennis R. Johnson
  • Karen Nuytemans
  • Francesc Palau
  • Dipa L. Raja Rayan
  • Peter N. Robinson
  • Antonio Salas
  • Birgitt Schüle
  • Mary G. Sweeney
  • Michael O. Woods
  • Jorge Amigo
  • Richard G. H. Cotton
  • Maria-Jesus Sobrido
NEUROGENETICS NEWS

DOI: 10.1007/s10048-011-0287-4

Cite this article as:
Haworth, A., Bertram, L., Carrera, P. et al. Neurogenetics (2011) 12: 169. doi:10.1007/s10048-011-0287-4

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

Human Variome projectNeurogenetics consortiumDatabaseGenetic variationStandardisationPhenotype

Copyright information

© Springer-Verlag 2011

Authors and Affiliations

  • Andrea Haworth
    • 1
  • Lars Bertram
    • 2
  • Paola Carrera
    • 3
  • Joanna L. Elson
    • 4
  • Corey D. Braastad
    • 5
  • Diane W. Cox
    • 6
  • Marc Cruts
    • 7
  • Johann T. den Dunnen
    • 8
  • Matthew J. Farrer
    • 9
  • John K. Fink
    • 10
  • Sherifa A. Hamed
    • 11
  • Henry Houlden
    • 12
  • Dennis R. Johnson
    • 13
  • Karen Nuytemans
    • 7
  • Francesc Palau
    • 14
  • Dipa L. Raja Rayan
    • 12
  • Peter N. Robinson
    • 15
  • Antonio Salas
    • 16
  • Birgitt Schüle
    • 17
  • Mary G. Sweeney
    • 1
  • Michael O. Woods
    • 18
  • Jorge Amigo
    • 19
  • Richard G. H. Cotton
    • 20
  • Maria-Jesus Sobrido
    • 21
    • 22
  1. 1.Neurogenetics Unit, Department of Molecular NeurosciencesNational Hospital of Neurology and NeurosurgeryLondonUK
  2. 2.Neuropsychiatric Genetic Vertebrate GenomicsMax-Planck Institute for Molecular GeneticsBerlinGermany
  3. 3.San Raffaele Scientific Institute, Center for Translational Genomics and Bioinformatics, Unit of Genomics for Human Disease Diagnosis and LaborafMilanItaly
  4. 4.Mitochondrial Research Group, Institute for Ageing and HealthNewcastle UniversityNewcastle upon TyneUK
  5. 5.Athena DiagnosticsWorcesterUSA
  6. 6.Department of Medical GeneticsUniversity of AlbertaEdmontonCanada
  7. 7.Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, University of AntwerpAntwerpBelgium
  8. 8.Human and Clinical GeneticsLeiden University Medical CenterLeidenthe Netherlands
  9. 9.Centre for Applied Neurogenetics, Brain Research CentreUniversity of British ColumbiaVancouverCanada
  10. 10.Department of Neurology and Geriatric Research Education and Clinical Center, Ann Arbor Veterans Affairs Medical CenterUniversity of MichiganAnn ArborUSA
  11. 11.Department of Neurology and PsychiatryAssiut University HospitalAssiutEgypt
  12. 12.MRC Centre for Neuromuscular DiseasesUCL Institute of NeurologyLondonUK
  13. 13.Evidence Based Healthcare Consulting, LCCCheshireUSA
  14. 14.Institute of Biomedicine of Valencia, CSIC and Center for Biomedical Network Research on Rare Diseases (CIBERER), Institute of Health Carlos IIIValenciaSpain
  15. 15.Institute for Medical Genetics and Human GeneticsCharité Universitätsmedizin BerlinBerlinGermany
  16. 16.Genetics Unit, Department of Pathology and Forensic Sciences, Institute of Legal Medicine, School of MedicineUniversity of Santiago de CompostelaSantiago de CompostelaSpain
  17. 17.The Parkinson’s Institute and Clinical CenterSunnyvaleUSA
  18. 18.Discipline of GeneticsMemorial University of NewfoundlandSt. John’sCanada
  19. 19.Genomic Medicine GroupUniversity of Santiago de Compostela, Center for Biomedical Network Research on Rare Diseases (CIBERER), Institute of Health Carlos IIISantiago de CompostelaSpain
  20. 20.Genomic Disorders Research Centre and Department of Medicine (St. Vincent’s)University of MelbourneMelbourneAustralia
  21. 21.Fundación Pública Galega de Medicina XenómicaSantiago de CompostelaSpain
  22. 22.Center for Biomedical Network Research on Rare Diseases (CIBERER)Institute of Health Carlos IIISantiago de CompostelaSpain