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

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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.

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Acknowledgements

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.

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Authors and Affiliations

  1. Neurogenetics Unit, Department of Molecular Neurosciences, National Hospital of Neurology and Neurosurgery, Queen Square, London, UK

    Andrea Haworth & Mary G. Sweeney

  2. Neuropsychiatric Genetic Vertebrate Genomics, Max-Planck Institute for Molecular Genetics, Berlin, Germany

    Lars Bertram

  3. San Raffaele Scientific Institute, Center for Translational Genomics and Bioinformatics, Unit of Genomics for Human Disease Diagnosis and Laboraf, Milan, Italy

    Paola Carrera

  4. Mitochondrial Research Group, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, UK

    Joanna L. Elson

  5. Athena Diagnostics, Worcester, MA, USA

    Corey D. Braastad

  6. Department of Medical Genetics, University of Alberta, Edmonton, AB, Canada

    Diane W. Cox

  7. Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, University of Antwerp, Antwerp, Belgium

    Marc Cruts & Karen Nuytemans

  8. Human and Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands

    Johann T. den Dunnen

  9. Centre for Applied Neurogenetics, Brain Research Centre, University of British Columbia, Vancouver, BC, Canada

    Matthew J. Farrer

  10. Department of Neurology and Geriatric Research Education and Clinical Center, Ann Arbor Veterans Affairs Medical Center, University of Michigan, Ann Arbor, MI, USA

    John K. Fink

  11. Department of Neurology and Psychiatry, Assiut University Hospital, Assiut, Egypt

    Sherifa A. Hamed

  12. MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK

    Henry Houlden & Dipa L. Raja Rayan

  13. Evidence Based Healthcare Consulting, LCC, Cheshire, CT, USA

    Dennis R. Johnson

  14. Institute of Biomedicine of Valencia, CSIC and Center for Biomedical Network Research on Rare Diseases (CIBERER), Institute of Health Carlos III, Valencia, Spain

    Francesc Palau

  15. Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany

    Peter N. Robinson

  16. Genetics Unit, Department of Pathology and Forensic Sciences, Institute of Legal Medicine, School of Medicine, University of Santiago de Compostela, Santiago de Compostela, Galicia, Spain

    Antonio Salas

  17. The Parkinson’s Institute and Clinical Center, Sunnyvale, CA, USA

    Birgitt Schüle

  18. Discipline of Genetics, Memorial University of Newfoundland, St. John’s, NL, Canada

    Michael O. Woods

  19. Genomic Medicine Group, University of Santiago de Compostela, Center for Biomedical Network Research on Rare Diseases (CIBERER), Institute of Health Carlos III, Santiago de Compostela, Spain

    Jorge Amigo

  20. Genomic Disorders Research Centre and Department of Medicine (St. Vincent’s), University of Melbourne, Melbourne, Victoria, Australia

    Richard G. H. Cotton

  21. Fundación Pública Galega de Medicina Xenómica, Travesía da Choupana s/n, 15706, Santiago de Compostela, Spain

    Maria-Jesus Sobrido

  22. Center for Biomedical Network Research on Rare Diseases (CIBERER), Institute of Health Carlos III, Santiago de Compostela, Spain

    Maria-Jesus Sobrido

Authors
  1. Andrea Haworth
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  2. Lars Bertram
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  3. Paola Carrera
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  6. Diane W. Cox
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  7. Marc Cruts
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  8. Johann T. den Dunnen
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  9. Matthew J. Farrer
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  10. John K. Fink
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  11. Sherifa A. Hamed
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  12. Henry Houlden
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  13. Dennis R. Johnson
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  14. Karen Nuytemans
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  15. Francesc Palau
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  16. Dipa L. Raja Rayan
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  17. Peter N. Robinson
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  18. Antonio Salas
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  19. Birgitt Schüle
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  20. Mary G. Sweeney
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  21. Michael O. Woods
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  22. Jorge Amigo
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  23. Richard G. H. Cotton
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  24. Maria-Jesus Sobrido
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Corresponding author

Correspondence to Maria-Jesus Sobrido.

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Haworth, A., Bertram, L., Carrera, P. et al. Call for participation in the neurogenetics consortium within the Human Variome Project. Neurogenetics 12, 169–173 (2011). https://doi.org/10.1007/s10048-011-0287-4

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  • DOI: https://doi.org/10.1007/s10048-011-0287-4

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