Research of Biomarkers in Parkinson Disease
Research of Biomarkers in Parkinson Disease
The main goal of the GENEPARK consortium is to employ innovative haemogenomic approaches to
 determine gene expression profiles specific for genetic and idiopathic Parkinson's disease
 (PD) patients. These gene expression signatures will be utilised clinically as non-invasive
 diagnostic tests for PD. The sensitivity of the newly developed diagnostic test will be
 determined by extensive validations on an independent cohort of PD patients, whereas the
 specificity will be assessed by testing patients with atypical parkinsonisms, including
 multiple system atrophy, progressive supranuclear palsy and diffuse Lewy body disease. In
 order to test the specificity of the diagnostic set in other disorders that affect basal
 ganglia, Huntington's disease and dopa responsive dystonia patients will be analysed. The
 second objective of the proposal is to determine correlations between gene expression
 signatures and different stages of PD and thus provide the basis for early diagnosis and
 monitoring of disease progression. These changes in blood gene expression will be correlated
 with alterations detected by neuroimaging in the brain of PD patients. Such combinations of
 molecular and morphological markers of disease may ultimately facilitate the selection and
 monitoring of neuroprotective therapies for PD. Finally, GENEPARK aims to develop new
 bioinformatic software tools for selection of genomic biomarkers using microarray data. A set
 of established computational tools will be applied and novel methods, some of them based on
 mechanistic modelling of the neurodegenerative diseases, will be developed in order to study
 the advantages and limitations of the different methodologies.

 With special emphasis on the careful clinical selection of patients and sufficient power
 regarding patient numbers, as well as extensive quality control and validation of the data,
 GENEPARK aims to develop a standardised approach to development and validation of
 haemogenomic biomarkers of disease.
Employ innovative haemogenomic approaches to determine gene expression signatures specific
 for idiopathic Parkinson's disease (PD). There is currently no specific clinical or
 laboratory diagnostic test available for PD. In GENEPARK, blood samples from patients with
 genetic PD and idiopathic PD will be analysed by microarrays to identify gene expression
 signatures specific for PD. The specificity of the new biomarkers for PD will be tested by
 the analysis of patients with atypical parkinsonisms, including multiple system atrophy
 (MSA), progressive supranuclear palsy (PSP) and diffuse Lewy body disease (DLBD), as well as
 in patients with other basal ganglia disorders such as Huntington's disease (HD) and dopa
 responsive dystonia (DRD). The validated gene expression signatures will be utilised to
 develop a new test for diagnosis of idiopathic PD. Determine correlation between gene
 expression signatures and different stages of PD.

 Gene expression in presymptomatic and symptomatic patients with genetic forms of PD as well
 as patients in various stages of idiopathic PD will be analysed to identify gene expression
 signatures specific for various stages of the disease. It should be emphasised that since no
 clinical measures are present in presymptomatic genetic PD such molecular markers could serve
 as surrogate markers to monitor therapeutic efficacy of possible preventive treatments in PD.
 Determine correlations between gene expression signatures and morphological evidence of
 neurodegenerative process in PD brain as determined by neuroimaging. Gene expression
 signatures identified in blood samples will be correlated with changes in brain as detected
 by neuroimaging in PD patients. Such correlations of molecular and morphological markers of
 disease will facilitate the selection of blood markers in relation to disease progression.
 Moreover, molecular and morphological markers of disease progression could be utilised in
 combination for monitoring the effects of new neuroprotective therapies for PD. Develop
 standardised approaches to development and validation of haemogenomic biomarkers.

 This objective will be achieved by the special emphasis on careful clinical selection of
 patients, sufficient power regarding patient numbers, as well as extensive quality control
 and validation of the data. Develop new bioinformatic software tools for selection of genomic
 biomarkers using microarray data. The aim of the GENEPARK is to develop the theoretical
 foundations and to build the software tools for sample classification and selection of
 genomic biomarkers using microarray data. The established computational tools and novel
 methods developed within the GENEPARK will be applied to the patient data to study advantages
 and limitations of different methodologies.
Inclusion Criteria:

 -  Diagnosis of Parkinson's disease

 -  Ability to understand the aim of the study

 -  Ability to sign the consent form

 Exclusion Criteria:

 -  Non ability to understand the aim of the study

 -  Non ability to sign the consent form

 -  To be over 18