WikiRare: a proposed database to chart links between diseases



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tarix01.04.2017
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#13138
WikiRare: a proposed database to chart links between diseases

Christopher Ogden1, Peter McIntosh1, Martin Raff1,2, John Hardy1,3



1WikiRare Working Group, c/o BusinessNext, 16 Laurier Road, London NW5 1SG; 2 MRC Laboratory for Molecular Cell Biology, University College London; 3UCL Institute of Neurology, Queen Square, London

Investigators working in the field of neurodegeneration are well aware that many recognise various commonalities exist in the pathogenesis of different neurodegenerative disorders, including. Frequently encountered themes include, for example: aberrant aggregation of proteins, defective mitochondrial function, impaired axonal transport impairment, autoimmune and axonal damage, free radical production and programmed cell death. No database exists that sets out to comprehensively detects, categorises and charts such mechanistic links between these diseases, even though. it Such a tool would greatly benefit strategic thinking about disease mechanisms. It Such a database would also help to integrate work and knowledge on rare diseases, - which, unlike most of the more common disorders, often have a well-defined and compelling genetic component - with more common disorders, where genetic aspects are generally absentmutation underlying them. We have provisionally entitled the our proposed database WikiRare, since our ambition we suspectis that rare diseases may be the earliesty beneficiaries would be rare diseases. The database would initially cover all classes of neurological neurodegenerative disease but would later be extended to include various non-neurological diseases. It may also include the genetic and pathological characteristics ofdata on animal models of these diseases, allowing mapping to the human diseases in which they have been observed.

We recognise the magnitude of this endeavour, and believe that the best way to implement a viable system capable of sustained growth is byforward is to harnessing the energy and resources of the internet community, using the Wikipedia model. However, although WikiRare will include a forum for open debate of disease characteristics and mechanisms, its core component will comprise consist of highly -structured biomedical data relating to proven genetic, pathological and additionalrelevant to the diseases components, with. Well-considered and robust organisational mechanisms must thus be in place to validate, standardise and categorise the data used for detecting and mapping disease linkages.

We outline one suggested model for such a systemdatabase, without wishing to pre-empt the recommendations of the scientific, medical and patient participants in of a forthcoming workshop on the WikiRare proposal. (We thank the Wellcome Trust for funding this workshop.) We invite comments, suggestions and participation from the scientific, medical and patient communities.



Acknowledgement

We thank the Wellcome Trust for funding a workshop on the WikiRare proposal
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