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Re: [ontolog-forum] Genetic discovery using ontology mapping of observat

To: "[ontolog-forum]" <ontolog-forum@xxxxxxxxxxxxxxxx>
From: Barry Smith <phismith@xxxxxxxxxxx>
Date: Sat, 11 May 2013 16:47:58 -0400
Message-id: <CAN_82SSzeWj-8am98aMMkB7mBZExS5kRPdNEg5f9patk755L7g@xxxxxxxxxxxxxx>
Rich
If there is one example of a success story in the ontology field it is
the Gene Ontology, and the various ontologies created to work in
tandem therewith in the study of disease. See    (01)

http://geneontology.org
http://www.obofoundry.org/    (02)

Barry    (03)

On Sat, May 11, 2013 at 4:47 AM, Rich Cooper
<rich@xxxxxxxxxxxxxxxxxxxxxx> wrote:
> There is a genetic relationship with many diseases
> which is unknown just yet.  However, new
> relationships are popping up all the time.  For
> example, there is a relationship newly discovered
> between Fibromyalgia and a specific gene region :
>
> http://medicalxpress.com/news/2013-05-strong-genet
> ic-component-fibromyalgia.html
>
> Quoting from that article:
>
>         A genome-wide linkage scan has identified
> the chromosome 17p11.2-q11.2 region as the
> susceptibility locus for fibromyalgia, according
> to research published in the April issue of
> Arthritis & Rheumatism.
>
>
> Likewise, neurological diseases such as Alzheimers
> and Amyotropic Lateral Sclerosis (ALS, i.e. Lou
> Gehrig's Disease, aka Motor Neurone Disease) are
> on the rise in highly developed countries like the
> US and the UK. ALS is believed to be caused by
> reaction to a specific virus, which must have some
> genetic embedding.  Alzheimers has a tangling of
> neurons which could (or not) be genetically
> related:
>
> http://medicalxpress.com/news/2013-05-brain-diseas
> es-affecting-people-earlier.html
>
> Quoting from that article:
>
>         There is no one factor rather the likely
> interaction between all these environmental
> triggers, reflecting changes in other conditions.
> For example, whilst cancer deaths are down
> substantially, cancer incidence continues to rise;
> levels of asthma are un-precedented; the fall in
> male sperm counts - the rise of auto-immune
> diseases - all point to life-style and
> environmental influences.
>
> Could a genetic ontology be useful for mapping the
> disease biochemistry and environmental exposures
> to genetic profiles?  Perhaps such an ontology
> could be constructed automatically, step by step,
> through identifying subjects with known genetic
> spectrum and known environmental exposures versus
> diagnosed conditions.
>
> Forgetting about the NL relationship, the names of
> genes and proteins they code for might be more
> construable than more linguistically based
> ontologies.  We have had a lot of difficulty on
> this list when trying to map linguistic
> relationships to ontologies.
>
> In both these articles, there are directly
> measurable protein levels and genetic codes which
> are NOT linguistic, and which might make better
> fodder for evidence based ontological discovery
> for that very reason.
>
> Comments?
>
> -Rich
>
> Sincerely,
> Rich Cooper
> EnglishLogicKernel.com
> Rich AT EnglishLogicKernel DOT com
> 9 4 9 \ 5 2 5 - 5 7 1 2
>
>
>
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