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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 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.
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TRACK-HD is a major new international study of Huntington’s disease. It aims to be the most comprehensive study of premanifest and early HD, and will define the best combination of assessments to be used in clinical trials of disease-modifying treatments in HD. TRACK-HD began in January 2008 and involves 360 subjects at 4 sites internationally:
- London, UK
- Paris, France
- Leiden, Netherlands
- Vancouver, Canada
TRACK-HD uses the most cutting-edge assessment techniques available, to assess subjects once a year for a total of 4 years - 5 assessments in total. Each assessment is thorough and lasts one full day. Each visit involves the following assessments:
- A medical interview and neurological examination with a neurologist
- A blood sample, which will be used to find biomarkers for Huntington’s disease, and to provide DNA for studies of the genes that alter the way HD behaves
- A range of cognitive (thinking) tasks carried out on paper and on computer, with a psychologist
- Measurement of your eye movements, using a special set of computerised goggles
- An MRI brain scan lasting about 20 minutes, using the very latest “3 Tesla” scanners
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NucleiPark is a project aiming at exploring high field MR imaging (7T and 3T) of the brainstem, the deep nuclei and their connections in the parkinsonian symdromes, in order to develop applications dedicated to the prognosis, the pathophysiology and the improvement of therapeutic strategies. The members of the CENIR unit directly involved in the project are : Stéphane Lehéricy, MD-PhD, director of the CENIR, Eric Bardinet, PhD, technical director of the CENIR, Romain Valabregue, PhD, Cécile Gallea, PhD, Clarisse Longo dos Santos, PhD, Kévin Nigaud, TR.
Nucleipark is led by NeuroSpin.
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