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Leiden, Netherlands

Agency: Cordis | Branch: FP7 | Program: MC-ITN | Phase: FP7-PEOPLE-2013-ITN | Award Amount: 2.79M | Year: 2013

iMODE-CKD integrates multi-disciplinary expertise in proteomics, metabolomics, transcriptomics, bioinformatics, pathology, and clinical science from leading academic and industrial investigators, establishing a unique training platform on biomarker research and Systems Biology. Special emphasis is placed on the application of a wide range of omics and bioinformatics techniques to clinical research. This educational scope is placed in the context of a significant research objective: to improve quality of life of patients with chronic kidney disease (CKD) and diminish the severe health and economic burden imposed by this disease, by providing better diagnostic and prognostic means. Established CKD has been selected based on the accumulation of existing molecular data, and complementarity to active European programs focusing on early stage CKD in the context of diabetes and hypertension, in which participants of the consortium are actively involved. The main objectives of iMODE-CKD are: - Training young scientists to become the next generation of true translational multidisciplinary researchers exploiting multiple -omics technologies to their full extent. - Training young scientists in Systems Biology approaches to decipher molecular pathology and understanding clinical phenotypes. - Identifying and validating molecules involved in progression of renal complications trough clinical omics in established CKD. - Understanding the molecular determinants of established CKD through integrative Systems Biology. iMODE-CKD provides the opportunity to train young researchers not only in the different fields of -omics research, but also in -omics data evaluation, combining of datasets from different -omics traits, and exploiting both, data and literature, to enable the generation of in silico models of the molecular pathology of specific diseases. Such approaches will also enable development of new and specific drugs; and pave the road towards stratified/personalized medicine.

Agency: Cordis | Branch: FP7 | Program: CP-FP | Phase: HEALTH.2013.2.4.2-1 | Award Amount: 8.33M | Year: 2014

Asymptomatic vascular damage accumulates for years before patients are identified and subjected to therapeutic measures. The limited knowledge on early vascular disease pathophysiology is reflected in the lack of therapeutic options. SysVasc aims to overcome this limitation by mounting a comprehensive systems medicine approach to elucidate pathological mechanisms, which will yield molecular targets for therapeutic intervention. The consortium is based on established multidisciplinary European research networks, including specialists in pre-clinical and clinical research, omics technologies, and systems biology from research intensive SMEs and academia; partners synergistically provide access to an extensive number of selected population-based cohorts and associated datasets, cutting edge modeling and simulation methods, and established cardiovascular disease (CVD) animal models and patient cohorts. The coordinated application of these tools and know-how will identify pathophysiological mechanisms and key molecules responsible for onset and progression of CVD and validate their potential to serve as molecular targets for therapeutic intervention. To this end, the consortium will also use unique resources to evaluate molecular homology between the available model systems and human disease, which will yield reliable essential preclinical research tools to explore proof of concepts for therapeutic intervention studies and ultimately translate relevant results into novel therapeutic approaches. Collectively, SysVasc will identify and validate novel biology-driven key molecular targets for CVD treatment. Major scientific, societal and economic impact is expected including, but not limited to, providing a valuable resource to further CVD research, and enhance competitiveness of participating SMEs and European health industry in general by translating knowledge into innovative services in therapeutic target and drug research.

Agency: Cordis | Branch: FP7 | Program: CSA-SA | Phase: HEALTH.2013.4.1-4 | Award Amount: 553.89K | Year: 2013

The landscape of genetic testing is rapidly changing. Soon, whole genome sequence analysis (3Gb-testing) will be an effective and financially viable alternative to targeted gene analysis. New technologies that allow efficient sequencing of a whole human genome in a diagnostic setting will have an enormous impact on diagnostic centres replacing many existing molecular and cytogenetic tests. Patients deserve to benefit from our vastly growing knowledge on functional genomics. 3Gb-testing is the ideal method to bring these benefits to the public. However, it is critical to avoid mistakes with respect to ethics, quality, over or mis-interpretation of data. It is essential that our society is prepared for the change once it is implemented. Hence, current gaps in our knowledge have to be identified and research has to be initiated to bridge these gaps. The 3Gb-TEST project will bring stakeholders together and ensure they are informed with respect to the desirable and undesirable developments. The clinical utility and cost effectiveness of whole genome sequencing needs to be determined as part of a robust health technology assessment process (HTA). Interpretation of sequence data in terms of clinical relevance will pose a challenge to both laboratory and clinical geneticists. Substantial investments may be required and the logistic restructuring of genetic services will need to be addressed. This project aims to prepare Europe for innovations in molecular testing. Quality assessment schemes, HTA and guidelines have to be in place. Healthcare professionals must be aware of the impending change and potential impact on practice. The Consortium will inform the healthcare community and make recommendations to the European Commission, the European Society of Human Genetics, and national organizations relevant to this field. A key output will be a validated roadmap for the implementation of diagnostic genome sequencing in Europe.

Agency: Cordis | Branch: FP7 | Program: MC-ITN | Phase: FP7-PEOPLE-2012-ITN | Award Amount: 2.76M | Year: 2012

Autosomal Dominant Polycystic Kidney Disease (ADPKD) is an inherited kidney disorder with a prevalence of more than 1:1000, characterized by the development of renal cysts, slowly progressing towards end-stage renal disease. ADPKD is often associated with extra-renal complications, which can be devastating. Current therapy is directed towards limiting the morbidity and mortality from these complications, whereas effective specific treatments targeting the renal cystic disease are missing. Translational research using innovative approaches from molecular genetics, basic sciences to clinical applications are necessary to unravel the disease mechanism and to develop interventions, monitoring of cystic renal disease progression and to slow down renal cystic disease. In this context, the aim of TranCYST is to offer a multidisciplinary research training program to young researchers for the identification, characterization, and development of novel treatments in ADPKD, to prepare them to become leading scientists who are able to translate fundamental research questions to the clinic and vice versa,

Agency: Cordis | Branch: FP7 | Program: CP-IP | Phase: HEALTH.2013.2.2.1-4 | Award Amount: 13.02M | Year: 2013

Despite a great progress in the management of epilepsy, still one third of patients is refractory to available medications. The incidence of epilepsy is highest in infancy and 50% of children experience epilepsy-related comorbidities, such as developmental delay and autism. The development of epilepsy (epileptogenesis), extensively studied in animals, is barely studied in humans, as patients usually present AFTER the seizure onset. EPISTOP is the first prospective study of epileptogenesis in humans, beginning BEFORE seizures and continuing through age 2\ years, permitting detailed analysis of the onset, drug-resistance, and comorbidities of epilepsy. To maximize information derived from the study we have chosen homogenous group of patients with prenatal or early infantile diagnosis of Tuberous Sclerosis Complex (TSC). A clinical randomized study of pre-seizure treatment in TSC infants is a part of the project. The aim of EPISTOP is to examine the risk factors and biomarkers of epilepsy and to identify possible new therapeutic targets to block or otherwise modify epileptogenesis in humans. Biomarker analysis will be performed by a multidisciplinary, systematic approach in three clinical settings: 1/ prospective study of epilepsy development in infants with TSC, including analysis of clinical, neuroimaging, and molecular, blood-derived biomarkers at predefined time points: before the onset of seizures, at the onset of epileptiform discharges on EEG, at seizure onset and at the age of 24 months 2/ prospective study of blood-based biomarkers in infants with TSC treated with antiepileptic drugs prior to seizure onset in comparison to children treated only after clinical seizures appearance. 3/ analysis of biomarkers of epileptogenesis and drug-resistant epilepsy in brain specimens obtained from TSC patients who have had epilepsy surgery and TSC autopsy cases. EPISTOP will be carried out by a consortium of 14 partners from 9 countries, including 2 SMEs.

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