neurogenetics

, Volume 12, Issue 3, pp 169–173

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

Authors

  • Andrea Haworth
    • Neurogenetics Unit, Department of Molecular NeurosciencesNational Hospital of Neurology and Neurosurgery
  • Lars Bertram
    • Neuropsychiatric Genetic Vertebrate GenomicsMax-Planck Institute for Molecular Genetics
  • Paola Carrera
    • San Raffaele Scientific Institute, Center for Translational Genomics and Bioinformatics, Unit of Genomics for Human Disease Diagnosis and Laboraf
  • Joanna L. Elson
    • Mitochondrial Research Group, Institute for Ageing and HealthNewcastle University
  • Corey D. Braastad
    • Athena Diagnostics
  • Diane W. Cox
    • Department of Medical GeneticsUniversity of Alberta
  • Marc Cruts
    • Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, University of Antwerp
  • Johann T. den Dunnen
    • Human and Clinical GeneticsLeiden University Medical Center
  • Matthew J. Farrer
    • Centre for Applied Neurogenetics, Brain Research CentreUniversity of British Columbia
  • John K. Fink
    • Department of Neurology and Geriatric Research Education and Clinical Center, Ann Arbor Veterans Affairs Medical CenterUniversity of Michigan
  • Sherifa A. Hamed
    • Department of Neurology and PsychiatryAssiut University Hospital
  • Henry Houlden
    • MRC Centre for Neuromuscular DiseasesUCL Institute of Neurology
  • Dennis R. Johnson
    • Evidence Based Healthcare Consulting, LCC
  • Karen Nuytemans
    • Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, University of Antwerp
  • Francesc Palau
    • Institute of Biomedicine of Valencia, CSIC and Center for Biomedical Network Research on Rare Diseases (CIBERER), Institute of Health Carlos III
  • Dipa L. Raja Rayan
    • MRC Centre for Neuromuscular DiseasesUCL Institute of Neurology
  • Peter N. Robinson
    • Institute for Medical Genetics and Human GeneticsCharité Universitätsmedizin Berlin
  • Antonio Salas
    • Genetics Unit, Department of Pathology and Forensic Sciences, Institute of Legal Medicine, School of MedicineUniversity of Santiago de Compostela
  • Birgitt Schüle
    • The Parkinson’s Institute and Clinical Center
  • Mary G. Sweeney
    • Neurogenetics Unit, Department of Molecular NeurosciencesNational Hospital of Neurology and Neurosurgery
  • Michael O. Woods
    • Discipline of GeneticsMemorial University of Newfoundland
  • Jorge Amigo
    • Genomic Medicine GroupUniversity of Santiago de Compostela, Center for Biomedical Network Research on Rare Diseases (CIBERER), Institute of Health Carlos III
  • Richard G. H. Cotton
    • Genomic Disorders Research Centre and Department of Medicine (St. Vincent’s)University of Melbourne
    • Fundación Pública Galega de Medicina Xenómica
    • Center for Biomedical Network Research on Rare Diseases (CIBERER)Institute of Health Carlos III
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 project Neurogenetics consortium Database Genetic variation Standardisation Phenotype

Copyright information

© Springer-Verlag 2011