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21 projets européens trouvés

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 TERMINÉ 

RD-CONNECT: An integrated platform connecting registries, biobanks and clinical bioinformatics for rare disease research (RD-CONNECT)

Date du début: 1 nov. 2012, Date de fin: 31 oct. 2018,

Despite examples of excellent practice, rare disease (RD) research is still mainly fragmented by data and disease types. Individual efforts have little interoperability and almost no systematic connection between detailed clinical and genetic information, biomaterial availability or research/trial datasets. By developing robust mechanisms and standards for linking and exploiting these data, RD-Con ...
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 30

 TERMINÉ 

Identification of molecular targets for the treatment of the skeletal phenotype in Lysosomal Storage Disorders (.BLASTED2)

Date du début: 1 janv. 2014, Date de fin: 31 déc. 2017,

"Lysosomal storage disorders (LSDs) are inherited diseases characterized by progressive intracellular accumulation of undigested macromolecules due to lysosomal dysfunction. This results in a complex phenotype with broad pathological manifestations. Most LSDs are characterized by defective skeletogenesis. Despite this, the mechanisms by which lysosomal storage affects skeletal development and func ...
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 1

 TERMINÉ 

Biological Foundation for the Safety Classification of Engineered Nanomaterials (ENM): Systems Biology Approaches to Understand Interactions of ENM with Living Organisms and the Environment (NANOSOLUTIONS)

Date du début: 1 avr. 2013, Date de fin: 31 mars 2017,

The main objective of this research proposal is to identify and elaborate those characteristics of ENM that determine their biological hazard potential. This potential includes the ability of ENM to induce damage at the cellular, tissue, or organism levels by interacting with cellular structures leading to impairment of key cellular functions. These adverse effects may be mediated by ENM-induced a ...
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 40

 TERMINÉ 

Beyond the Genome; training the next generation of ophthalmic researchers (EyeTN)

Date du début: 1 nov. 2012, Date de fin: 31 oct. 2016,

Eye research has often blazed a trail for other disciplines to follow, giving a lead in neuroscience, genetics, the development of gene- and stem-cell therapies and other important areas of medical research. In recent years, geneticists have made many remarkable discoveries of relevance both to normal human vision and the development of inherited retinal pathology. However the genes and mutations ...
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 7

 TERMINÉ 

Systems biology of liver cancer: an integrative genomic-epigenomic approach (MODHEP)

Date du début: 1 janv. 2011, Date de fin: 30 juin 2016,

"Cancer is a complex disease involving multiple genetic and epigenetic events occurring, and influencing each other, over a long period of time. Understanding cancer, and ultimately developing effective targeted therapies, will therefore require that mutations and epigenetic alterations be systematically investigated during the multiple stages of disease development, from identifiable pre-neoplast ...
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 18

 TERMINÉ 

Search for novel molecules cross-talking between muscle and cancer with therapeutic potential against cachexia and cancer (muscleandcancer)

Date du début: 1 juin 2012, Date de fin: 31 mai 2016,

Cancer cachexia is a life-threatening syndrome characterized by severe body weight loss, due to depletion of adipose tissue and skeletal muscle, and affects up to 80% of patients with advanced cancers. The rapid loss of muscle mass is the main cause of function impairment, fatigue and respiratory complications, leading to death in 20-48% of cases. To date, no effective treatment is available. By u ...
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 2

 TERMINÉ 

Wnt/beta-Catenin Signalling Pathway Controls Reprogramming: The Basis Of Regeneration In Higher Vertebrates (RERE)

Date du début: 1 janv. 2010, Date de fin: 31 déc. 2015,

Differentiation from zygotes in all cells of the body has been considered a unidirectional route. Recently, however, it has become clear that the inverse path is possible, as the reprogramming of somatic nuclei, i.e. the de-differentiation of somatic cells in pluripotent stem-like cells. To date, reprogramming has been induced in vitro by transferring somatic nuclei into enucleated oocytes, by fus ...
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 3

 TERMINÉ 

Rapid development and distribution of statistical tools for high-throughput sequencing data (RADIANT)

Date du début: 1 déc. 2012, Date de fin: 30 nov. 2015,

"High-throughput sequencing (HTS) is a powerful and rapidly evolving family of technologies with a multitude of applications. They include genetics of rare and common diseases, understanding of disease mechanism and progression through transcriptome and epigenome profiling, cancer stratification, personalised medicine and molecular systems biology of gene regulation. The genome, epigenome, transcr ...
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 10

 TERMINÉ 

Targeting glucocorticoid resistance in T-ALL: a Systems Biology approach (TiGRe)

Date du début: 1 déc. 2010, Date de fin: 31 août 2015,

T-cell acute lymphoblastic leukemia (T-ALL) is an aggressive hematologic cancer that accounts for 10% to 15% of pediatric and 25% of adult ALL cases. Glucocorticoids play a central role in the treatment of T-ALL due to their capacity to induce growth arrest and apoptosis in lymphoid progenitor cells. The development of glucocortioid resistance in leukemia patients is an important clinical problem ...
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 1

 TERMINÉ 

A systems biology approach to dissect cilia function and its disruption in human genetic disease (SYSCILIA)

Date du début: 1 juin 2010, Date de fin: 31 mai 2015,

AIM: To identify the molecular mechanisms characterizing cilium function, and the discrete perturbations associated with dysfunction caused by mutations in inherited ciliopathies, applying a systems biology approach. BACKGROUND: Cilia are microtubule-based, centriole-derived projections from the cell surface. They transduce extracellular signals and regulate key processes in which signals of the e ...
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 17

 TERMINÉ 

From Data to Models: New Bioinformatics Methods and Tools for Data-Driven Predictive Dynamic Modelling in Biotechnological Applications (BIOPREDYN)

Date du début: 1 oct. 2011, Date de fin: 31 mars 2015,

Currently, biologists are collecting enormous amounts of ‘omics’ data in a vast number of different databases. Predictive, data-driven computational models are needed to understand the complex, multi-scale biological networks underlying these high-throughput datasets. Such models are non-linear and contain many parameters, which are difficult (or impossible) to measure directly. Instead, parameter ...
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 12

 TERMINÉ 

Modulating cellular clearance to cure human disease (CLEAR)

Date du début: 1 mars 2010, Date de fin: 28 févr. 2015,

Cellular clearance is a fundamental process required by all cells in all species. Important physiological processes, such as aging, and pathological mechanisms, such as neurodegeneration, are strictly dependent on cellular clearance. In eukaryotes, most of the cellular clearing processes occur in a specialized organelle, the lysosome. This project is based on a recent discovery, made in our labora ...
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 1

 TERMINÉ 

Activation of vasculature associated stem cells and muscle stem cells for the repair and maintenance of muscle tissue (Endostem)

Date du début: 1 janv. 2010, Date de fin: 31 déc. 2014,

We propose to develop new strategies to mobilize skeletal muscle tissue-associated stem cells as a tool for efficient tissue repair. This will be combined with exploring novel approaches that limit tissue damage, and will focus on agents that modify muscle and muscle vasculature progenitor cells. These molecules include nitric oxide associated with non-steroidal anti-inflammatory drugs, HMGB1, Cri ...
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 22

 TERMINÉ 

Fighting blindness of Usher syndrome: diagnosis, pathogenesis and retinal treatment (TreatRetUsher) (TREATRUSH)

Date du début: 1 févr. 2010, Date de fin: 31 janv. 2014,

Usher syndrome (USH) is the most frequent hereditary cause of deafness associated to blindness. It is a rare disease, affecting 1 in every 10.000 individuals, with an autosomal recessive monogenic inheritance. Deafness is congenital while the retinitis pigmentosa is not detected before the age of 8 to 10. These patients suffer from a dreadful disability as their two major senses are impaired. Impo ...
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 13

 TERMINÉ 

“The International Data Coordination Centre” (I-DCC)

Date du début: 1 janv. 2009, Date de fin: 30 sept. 2013,

"The I-DCC coordination and support project responds to the topic defined by HEALTH-2007-2.1.2-6 “International activities in large-scale data gathering and systems biology”. I-DCC integrates European skills, efforts, resources, and infrastructure in an international collaborative programme to establish a European Data Coordination Centre for mouse genetic resources. Large-scale mouse mutagenesis ...
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 10

 TERMINÉ 

Definition of a genetic network involved in congenital heart disease (CardioGeNet)

Date du début: 1 mars 2009, Date de fin: 28 févr. 2013,

This application focuses on transcriptional networks that govern the development of a heart region commonly affected by congenital heart disease (CHD). The major goal is to provide the clinical and basic science research communities with a validated list of interconnected genes required for normal heart development. To achieve this goal, we have recruited 6 European groups of scientists strongly ...
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 8

 TERMINÉ 

Study of the functional role of microRNAs in the eye (EYE MICRORNAS)

Date du début: 1 oct. 2008, Date de fin: 29 févr. 2012,

"The eye is a highly specialized organ whose development and function requires a precise coordination and timing of morphogenetic and cell differentiation events. However, in spite of the recent significant advances in the field, also facilitated by the human and the mouse genomic sequencing efforts, the transcriptional control of this complex network of events is still poorly understood. This pro ...
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 1

 TERMINÉ 

High throughput molecular diagnostics in individual patients for genetic diseases with heterogeneous clinical presentation (TECHGENE)

Date du début: 1 févr. 2009, Date de fin: 31 janv. 2012,

"Since the sequencing of the human genome has been completed the demand for genetic analysis in the human health care system is drastically increasing, and the extension of molecular genetic diagnostics is urgently needed. However, the majority of genetic diseases is molecularly and clinically highly heterogeneous, and until recently the available techniques lacked the required capacity to analyze ...
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 12

 TERMINÉ 

GENE THERAPY FOR INHERITED SEVERE PHOTORECEPTOR DISEASES (AAVEYE)

Date du début: 1 nov. 2008, Date de fin: 31 oct. 2011,

"The retina represents the visual sensory receptor of the nervous system (CNS). Inherited diseases like Retintitis Pigmentosa (RP) and Leber Congenital Amaurosis (LCA), for which no therapies are available, are due to mutations in genes preferentially expressed in the photoreceptor cells of the retina. Vectors derived from the adeno-associated virus (AAV) efficiently transduce the retina of anima ...
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 4

 TERMINÉ 

A European Consortium for Lysosomal Disorders (EUCLYD)

Date du début: 1 mai 2008, Date de fin: 30 avr. 2011,

"The EUCLYD consortium aims at developing a scientific network among outstanding communities of basic and clinical investigators in five European countries (Italy, Netherlands, UK, Sweden and Germany) to study various aspects of lysosomal storage diseases (LSD). LSDs are rare disorders (overall prevalence of 1/5000 to 1/8000), each due to a specific lysosomal enzyme deficiency, leading to intracel ...
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 6

 TERMINÉ 

"Pathophysiology of rare diseases due to ciliary dysfunction: nephronophthisis, Oral-facial-digital type 1 and Bardet-Biedl syndromes" (EUCILIA)

Date du début: 1 févr. 2008, Date de fin: 31 janv. 2011,

"Primary cilia have been recognized on nearly all-mammalian cells. Emerging data suggest that they act as cellular antennae with diverse motility and sensory functions, detecting a wide variety of signals. As such, defects in cilia formation or function have profound effects on the development of body pattern and the physiology of multiple organ systems. Ciliary defects underlie a wide range of hu ...
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 4