NEUROGENETICS NEWS

neurogenetics

, Volume 12, Issue 3, pp 169-173

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

  • Andrea HaworthAffiliated withNeurogenetics Unit, Department of Molecular Neurosciences, National Hospital of Neurology and Neurosurgery
  • , Lars BertramAffiliated withNeuropsychiatric Genetic Vertebrate Genomics, Max-Planck Institute for Molecular Genetics
  • , Paola CarreraAffiliated withSan Raffaele Scientific Institute, Center for Translational Genomics and Bioinformatics, Unit of Genomics for Human Disease Diagnosis and Laboraf
  • , Joanna L. ElsonAffiliated withMitochondrial Research Group, Institute for Ageing and Health, Newcastle University
  • , Corey D. BraastadAffiliated withAthena Diagnostics
  • , Diane W. CoxAffiliated withDepartment of Medical Genetics, University of Alberta
  • , Marc CrutsAffiliated withNeurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, University of Antwerp
  • , Johann T. den DunnenAffiliated withHuman and Clinical Genetics, Leiden University Medical Center
  • , Matthew J. FarrerAffiliated withCentre for Applied Neurogenetics, Brain Research Centre, University of British Columbia
    • , John K. FinkAffiliated withNeurogenetics Unit, Department of Molecular Neurosciences, National Hospital of Neurology and NeurosurgeryDepartment of Neurology and Geriatric Research Education and Clinical Center, Ann Arbor Veterans Affairs Medical Center, University of Michigan
    • , Sherifa A. HamedAffiliated withNeurogenetics Unit, Department of Molecular Neurosciences, National Hospital of Neurology and NeurosurgeryDepartment of Neurology and Psychiatry, Assiut University Hospital
    • , Henry HouldenAffiliated withNeurogenetics Unit, Department of Molecular Neurosciences, National Hospital of Neurology and NeurosurgeryMRC Centre for Neuromuscular Diseases, UCL Institute of Neurology
    • , Dennis R. JohnsonAffiliated withNeurogenetics Unit, Department of Molecular Neurosciences, National Hospital of Neurology and NeurosurgeryEvidence Based Healthcare Consulting, LCC
    • , Karen NuytemansAffiliated withNeurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, University of Antwerp
    • , Francesc PalauAffiliated withNeurogenetics Unit, Department of Molecular Neurosciences, National Hospital of Neurology and NeurosurgeryInstitute of Biomedicine of Valencia, CSIC and Center for Biomedical Network Research on Rare Diseases (CIBERER), Institute of Health Carlos III
    • , Dipa L. Raja RayanAffiliated withNeurogenetics Unit, Department of Molecular Neurosciences, National Hospital of Neurology and NeurosurgeryMRC Centre for Neuromuscular Diseases, UCL Institute of Neurology
    • , Peter N. RobinsonAffiliated withNeurogenetics Unit, Department of Molecular Neurosciences, National Hospital of Neurology and NeurosurgeryInstitute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin
    • , Antonio SalasAffiliated withNeurogenetics Unit, Department of Molecular Neurosciences, National Hospital of Neurology and NeurosurgeryGenetics Unit, Department of Pathology and Forensic Sciences, Institute of Legal Medicine, School of Medicine, University of Santiago de Compostela
    • , Birgitt SchüleAffiliated withNeurogenetics Unit, Department of Molecular Neurosciences, National Hospital of Neurology and NeurosurgeryThe Parkinson’s Institute and Clinical Center
    • , Mary G. SweeneyAffiliated withNeurogenetics Unit, Department of Molecular Neurosciences, National Hospital of Neurology and Neurosurgery
    • , Michael O. WoodsAffiliated withNeurogenetics Unit, Department of Molecular Neurosciences, National Hospital of Neurology and NeurosurgeryDiscipline of Genetics, Memorial University of Newfoundland
    • , Jorge AmigoAffiliated withNeurogenetics Unit, Department of Molecular Neurosciences, National Hospital of Neurology and NeurosurgeryGenomic Medicine Group, University of Santiago de Compostela, Center for Biomedical Network Research on Rare Diseases (CIBERER), Institute of Health Carlos III
    • , Richard G. H. CottonAffiliated withNeuropsychiatric Genetic Vertebrate Genomics, Max-Planck Institute for Molecular GeneticsGenomic Disorders Research Centre and Department of Medicine (St. Vincent’s), University of Melbourne
    • , Maria-Jesus SobridoAffiliated withNeuropsychiatric Genetic Vertebrate Genomics, Max-Planck Institute for Molecular GeneticsFundación Pública Galega de Medicina XenómicaCenter for Biomedical Network Research on Rare Diseases (CIBERER), Institute of Health Carlos III Email author 

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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