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Kick-Off Meeting, Brussels, May 23-24, 2008

Kick-Off Meeting, Brussels, May 23-24, 2008. Call HEALTH-2007-2.4.4-1: Natural course and pathophysiology of rare diseases principally affecting the genitourinary tract. FP7 Health : Policy context. Content of the call. Call HEALTH-2007-2.4.4-1 : Key Words.

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Kick-Off Meeting, Brussels, May 23-24, 2008

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  1. Kick-Off Meeting, Brussels, May 23-24, 2008

  2. Call HEALTH-2007-2.4.4-1: Natural course and pathophysiology of rare diseases principally affecting the genitourinary tract.

  3. FP7 Health : Policy context

  4. Content of the call

  5. Call HEALTH-2007-2.4.4-1 : Key Words • Mobilising a critical mass: European-wide studies • Shed light on the course and/or mechanisms of rare diseases • Development of adequate models • Test diagnostic, preventive and/or therapeutic approaches • To alleviate the negative impact of disease on patients and families • Health prevention : children – ageing • Health policy making

  6. 1 - UCL Brussels 2 - INSERM Paris 3 - AU Aarhus 4 - RUNMC Nijmegen 5 - CHARITE Berlin 6 - UZH Zurich 7 - HSR Milan 8 - GOSH London Medium-scale Focused Research Project Total Budget, EU-funded: 3 millions euros

  7. EUNEFRON will investigate rare inherited diseases affecting five critical structures of the kidney: • Podocytes (Topic 1) • Proximal tubule (Topic 2) • Thick ascending limb (Topic 3) • Distal convoluted tubule (Topic 4) • Collecting duct (Topic 5)

  8. 16 rare inherited diseases - 20 genes - wide range of functions (transport, enzyme, structure, transcription, …)

  9. Topic 1 : Disorders of the podocyte • Feto-Maternal Allo-Immune Glomerulopathies (FMAIG) • Fabry Disease • Mechanisms of proteinuria and disease progression • in genetic diseases of the podocyte We will investigate the natural course and pathophysiology of rare diseases affecting the podocyte, based on a complementarity expertise, and taking advantage of cell and animal models. These rare diseases provide a unique opportunity to analyze “pure” podocyte pathobiology, irrespective of confounding factors. We will also investigate the pathogenesis of proteinuria and interstitial fibrosis in congenital nephrotic syndrome and therapeutic modalities (FMAIG, Fabry).

  10. Topic 2 : Disorders of the proximal tubule • Cystinosis • Imerslund Gräsbeck disease • Maturity Onset Diabetes of the Young (MODY 3) • Hereditary Angiopathy with Nephropathy, Aneurism and Cramps • (HANAC) We will investigate the natural course and pathogenesis of rare diseases affecting renal PT, based on a complementary expertise in clinical studies, epithelial physiology (ion transport), and cell biology (endocytosis and trafficking), and taking advantage of cell and mouse models. These studies will yield knowledge on PT protein handling, damage and adaptive mechanisms induced by oxidative stress and renal disease progression.

  11. Topic 3 : Disorders of the thick ascending limb • Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis • (FHHNC) • Familial Juvenile Hyperuricemic Nephropathy (FJHN) We will develop novel mouse models and cell culture systems to provide insights into the pathophysiology of several human TAL disorders. We will take advantage of the network to investigate the natural course of these disorders, their phenotype variability, and the response to interventions. Several results obtained in animal models, e.g. inhibition of nephrocalcinosis in ClC-5 and CLDN-16 KO mice, could be transferred directly to patient oriented research.

  12. Topic 4 : Disorders of the distal convoluted tubule • Gitelman syndrome (GS) • Pseudohypoaldosteronism type II (PHA2) or Gordon syndrome We will investigate the natural course and pathophysiology of GS and PHA2, based on mouse models, cellular studies, and patients cohorts. We will focus on the molecular bases for the phenotypic heterogeneity and investigate possible causes for the failure to detect the second mutation in GS. These investigations will yield new disease models and insights into regulation of blood pressure, response to diuretics, and transport mechanisms in nephron segments.

  13. Topic 5 : Disorders of the collecting duct • Genetic renal disorders of systemic pH homeostasis • Genetic renal disorders of systemic water homeostasis We will investigate the genotype-phenotype correlations and the molecular basis underlying dRTA with AE1 mutants, and study the role of newly-identified anion transporters, pendrin and AE1 interacting proteins. The role of pendrin as a potential target in hypertension and the role of ClC-5 in H+-ATPase-mediated urine acidification will be determined. NDI patients will be analyzed and we will test whether V2R (ant)agonists are able to rescue their encoded V2R mutants. A novel method for fast in vivo screening to evaluate the role of proteins in CD physiology and diseases will be developed.

  14. The informations generated in Topics 1 to 5 will be complemented by the creation of • a European Registry and • a Network of Genetic Laboratories (Topic 6). • Management and dissemination (Topic 7) will • support all activities within the consortium.

  15. Topic 6 : Registry and network • Creation of a European Registry of Rare Nephropathies • Creation of a European Network of Genetic Laboratories The creation of a European Registry of Rare Nephropathies is central to the overall proposal. It will be a critical tool to improve our knowledge on these rare diseases from clinical presentation & natural course to pathophysiology; to facilitate the dissemination of information; to promote basic and clinical investigations; and to improve follow up of the patients at the European level. We also aim to create a European Network of Genetic Laboratories in order to standardize and improve the procedures for genetic diagnosis; facilitate access to genotyping; and search for new genes.

  16. EUNEFRON: Interactive Design

  17. Expected Deliverables of EUNEFRON • Pathophysiology of rare inherited tubulopathies • Genotype-phenotype correlations • Cohorts for clinical studies - Natural history : EU level • New biomarkers • New models : rodents - cells - organisms • Therapeutic interventions • Building networks : Registry – Genetics labs for mutation detection • Dissemination to patients - organisations/Orphanet - research groups • Children diseases, ageing • Insights into common diseases : HTA, fibrosis, … Europe-wide - dissemination - Training

  18. Symposia, Courses, Fellowships Symposia “Two public symposia on rare inherited nephropathies” Courses “Training courses covering strategic technologies will be developed by individual institutions. Courses will cover one week of training for 3 to 5 scientists in guest labs.” Budget: 4 courses, 2000 € each Fellowships “Short-term (max 1 month) fellowships for scientists to visit collaborating institutions and to carry out studies in guest labs.” Budget: 10 fellowships, 2500 € each (including lodging and travel and minor benchfee) Mentoring and training “Communications on intellectual property rights, gender issues in research, ethics and social issues in rare diseases”

  19. Marjolaine Bos, Jean-Michel Debry, Anne Graftiaux, Jean-Pierre Grünfeld, Lisa Guay-Woodford, Alastair Kent, Mark Knepper, Friedrich C. Luft, Heini Murer, Samantha Parker, Merel Ritskes-Hoitinga, Karl-Heinz Wilbers EU Commission Advisory Board General Assembly Project coordinator Steering Committee Olivier Devuyst P. Ronco E. Christensen D. Müller X. Jeunemaitre P. Deen E. Levtchenko O. Devuyst Topic 1 Podocyte Topic 3 TAL Topic 4 DCT Topic 5 CD Topic 6 Registry Topic 7 M & D Topic 2 PT Project management office Panel Ethics/Society  Panel Training  Panel Exploitation/Innovation  Structure of the Consortium UCL Brussels HEGP Paris Tenon Paris Necker Paris Aarhus Nijmegen Charité Berlin Zurich Milan GOSH, London

  20. European Network for the Study of Orphan Nephropathies EUNEFRON Coordinator: Prof. Olivier Devuyst Olivier.Devuyst@uclouvain.be Tel : +32 2 764 5453 (5450) Fax : +32 2 764 5455 Project Manager: Dr. Iwan Meij i.meij@mdc-berlin.de Tel: +49 30 9406 4205 Fax: +49 30 9406 3382 www.EUNEFRON.org

  21. FP7 Health : Policy context Keywords : • Improving health – increasing competitivity and innovation • Translational research • Development and validation : therapies and diagnostic tools • Health prevention : children – ageing • Health policy making • Europe-wide networks

  22. Marjolaine Bos, Jean-Michel Debry, Anne Graftiaux, Jean-Pierre Grünfeld, Lisa Guay-Woodford, Alastair Kent, Mark Knepper, Friedrich C. Luft, Heini Murer, Samantha Parker, Merel Ritskes-Hoitinga, Karl-Heinz Wilbers EU Commission Advisory Board General Assembly Steering Committee P. Ronco E.I. Christensen D. Müller X. Jeunemaitre P. Deen E. Levtchenko O. Devuyst Topic 1 Podocyte Topic 3 TAL Topic 4 DCT Topic 5 CD Topic 6 Registry Topic 7 M & D Topic 2 PT UCL Brussels HEGP Paris Tenon Paris Necker Paris Aarhus Nijmegen Charité Berlin Zurich Milan GOSH, London Project coordinator Olivier Devuyst Project management office Panel « Ethics/Society » Panel « Training » Panel « Exploitation/Innovation »

  23. Structure of the Consortium

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