Pascual, V

Journal of Translational Medicine

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V Pascual

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INVITED LECTURE PRESENTATION Open AccessA genomic approach to biomarker discovery inhuman autoimmune diseasesV PascualFrom 5th European Workshop on Immune-Mediated Inflammatory DiseasesSitges-Barcelona, Spain. 1-3 December 2010An integrative evaluation of the complex network ofalterations underlying the pathogenesis of autoimmunediseases was until recently difficult to conceive. Technolo-gical advances in the past 10 years, however, now permitus to analyze DNA, RNA or protein in patient samples ona genome-wide scale. These techniques are changing theface of clinical research and opening the path for novelapproaches to patient care.The analysis of patient blood transcriptional profilesoffers a means to investigate immunological mechanismsrelevant to human diseases on a genome-wide scale.In addition, such studies provide a basis for the discov-ery of clinically-relevant biomarker signatures. We havedesigned a strategy for microarray analysis that is basedon the identification of transcriptional modules formedby genes coordinately expressed in multiple diseasedatasets. Mapping changes in gene expression at themodule-level generates disease-specific transcriptionalfingerprints and provides a stable framework for thevisualization and functional interpretation of the data.We have applied this approach to study patients withrheumatic diseases such as Systemic Lupus Erythemato-sus and Juvenile Arthritis. These studies have providedimportant insight regarding the pathogenesis of these dis-eases and have led to the identification of therapeutic tar-gets. This approach is currently being used to identifybiomarkers of diagnosis, disease activity and response totreatment. More quantitative and sensitive high through-put RNA profiling methods are starting to be availableand will soon permit transcriptome analyses to becomeroutine tests in the clinical setting.Published: 25 November 2010doi:10.1186/1479-5876-8-S1-I2Cite this article as: Pascual: A genomic approach to biomarkerdiscovery in human autoimmune diseases. Journal of TranslationalMedicine 2010 8(Suppl 1):I2.Submit your next manuscript to BioMed Centraland take full advantage of: • Convenient online submission• Thorough peer review• No space constraints or color figure charges• Immediate publication on acceptance• Inclusion in PubMed, CAS, Scopus and Google Scholar• Research which is freely available for redistributionSubmit your manuscript at www.biomedcentral.com/submitBaylor Institute for Immunology Research, Dallas, TX, USAPascual Journal of Translational Medicine 2010, 8(Suppl 1):I2http://www.translational-medicine.com/content/8/S1/I2© 2010 Pascual; licensee BioMed Central Ltd.

A genomic approach to biomarker discovery in human autoimmune diseases

Springer - Publisher Connector

INVITED LECTURE PRESENTATION Open Access
A genomic approach to biomarker discovery in
human autoimmune diseases
V Pascual
From 5th European Workshop on Immune-Mediated Inflammatory Diseases
Sitges-Barcelona, Spain. 1-3 December 2010
An integrative evaluation of the complex network of
alterations underlying the pathogenesis of autoimmune
diseases was until recently difficult to conceive. Technolo-
gical advances in the past 10 years, however, now permit
us to analyze DNA, RNA or protein in patient samples on
a genome-wide scale. These techniques are changing the
face of clinical research and opening the path for novel
approaches to patient care.
The analysis of patient blood transcriptional profiles
offers a means to investigate immunological mechanisms
relevant to human diseases on a genome-wide scale.
In addition, such studies provide a basis for the discov-
ery of clinically-relevant biomarker signatures. We have
designed a strategy for microarray analysis that is based
on the identification of transcriptional modules formed
by genes coordinately expressed in multiple disease
datasets. Mapping changes in gene expression at the
module-level generates disease-specific transcriptional
fingerprints and provides a stable framework for the
visualization and functional interpretation of the data.
We have applied this approach to study patients with
rheumatic diseases such as Systemic Lupus Erythemato-
sus and Juvenile Arthritis. These studies have provided
important insight regarding the pathogenesis of these dis-
eases and have led to the identification of therapeutic tar-
gets. This approach is currently being used to identify
biomarkers of diagnosis, disease activity and response to
treatment. More quantitative and sensitive high through-
put RNA profiling methods are starting to be available
and will soon permit transcriptome analyses to become
routine tests in the clinical setting.
Published: 25 November 2010
doi:10.1186/1479-5876-8-S1-I2
Cite this article as: Pascual: A genomic approach to biomarker
discovery in human autoimmune diseases. Journal of Translational
Medicine 2010 8(Suppl 1):I2.
Submit your next manuscript to BioMed Central
and take full advantage of: 
• Convenient online submission
• Thorough peer review
• No space constraints or color figure charges
• Immediate publication on acceptance
• Inclusion in PubMed, CAS, Scopus and Google Scholar
• Research which is freely available for redistribution
Submit your manuscript at 
www.biomedcentral.com/submitBaylor Institute for Immunology Research, Dallas, TX, USA
Pascual Journal of Translational Medicine 2010, 8(Suppl 1):I2
http://www.translational-medicine.com/content/8/S1/I2
© 2010 Pascual; licensee BioMed Central Ltd.


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A genomic approach to biomarker discovery in human autoimmune diseases

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