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LIST OF ALL FUNDED PROJECTS

Year Acronym Project Coordinator Title
2007 HAE III Cichon Sven Genetics, Pathophysiology, and Therapy of Hereditary Angioedema Type III
2011 TUB-GENCODEV Chelly Jamel Genetics of cortical gyral dysgenesis and pathophysiology of tubulin-related malformations of cortical development
2007 CRANIRARE Wollnik Bernd An integrated clinical and scientific approach for craniofacial malformations
2007 Epinostics Thiesen Hans-Jürgen "Autoimmune liver diseases” Epitope peptide mapping – The entry to novel and innovative diagnostic and therapeutic applications
2007 EUROBFNS Cilio Maria Roberta Benign Familial Neonatal Seizures (BFNS) as disease model for human idiopathic epilepsies: expansion of the genotype-phenotype correlations and insights into novel disease mechanisms
2007 EuroRETT Villard Laurent European Network on Rett Syndrome
2007 EUROSPA Brice Alexis European and Mediterranean network on spastic paraplegias
2007 HSCR Lyonnet Stanislas International Hirschsprung Disease Consortium
2007 Kindlernet Bruckner-Tuderman Leena International Kindler Syndrome Network
2007 MTMPathies Laporte Jocelyn Myotubularinopathies: common molecular mechanism and tissue specificity
2007 OSTEOPETR Ugazio Alberto Giovanni New Genes and Therapeutic Approaches to Osteopetrosis
2007 PodoNet Schaefer Franz PodoNet: Consortium for Clinical, Genetic and Experimental Research into Hereditary Diseases of the Podocyte
2007 RISCA Klockgether Thomas Prospective study of individuals at risk for spinocerebellar ataxia type 1, type 2, type 3 and type 6 (SCA1, SC2, SCA3, SCA6)
2007 WHIMPath Viola Antonella Understanding the WHIM syndrome and search for new therapies: molecular analysis of CXCR4 functions in leukocyte trafficking and activation
2009 CAV-4-MPS Bosch Assumpcio Understanding and treating neurodegeneration caused by mucopolysaccharidoses
2009 Cure-FXS Dierssen Mara Targeting Rho-signalling, a new therapeutic avenue in fragile X syndrome
2009 ELA2-CN Welte Karl H. Congenital neutropenia with ELA-2 mutations (ELA2-CN): Identification of (epi)genetic co-factors and molecular pathways underlying clinical heterogeneity
2009 ERMION Bonneau Dominique European research project on mendelian inherited optic neuropathie
2009 EuPAPNet Luisetti Maurizio European pulmonary alveolar proteinosis network : molecular determinants of causes, variability and outcome
2009 EMINA Danek Adrian European Multidisciplinary Initiative on Neuroacanthocytosis
2009 EURO-CGD Aiuti Alessandro Genetics and pathogenesis of chronic granulomatous disease and development of new gene transfer therapeutic approaches
2009 EuroGeBeta Vaxillaire Martine European network on genetics, pathophysiology and translational research into rare pancreatic beta-cell insufficiency diseases
2009 GETHERTHAL Anagnou Nicholas Improvements of vector technology and safety for the gene therapy of thalassemia
2009 HMA-IRON Beaumont Carole Towards improved diagnosis and treatment of rare inherited microcytic hypochromic anemias related to iron metabolism
2009 MLC-Team Estévez Raul Megalencephalic leukoencephalopathy with subcortical cysts: from molecular basis to search for therapy
2009 NEMMYOP Bendahan David Functional characterization of nemaline myopathy in a murine model with nebulin mutation: moving from basic understanding towards therapeutic interventions
2009 NEUTRO-NET Klein Christoph Inherited inhibition of inborn immunity – an integrated molecular genetic approach to discover novel human gene defects
2009 NsEuroNet Tartaglia Marco European network on noonan syndrome and related disorders
2009 EB Jonkman Marcel Identification of revertant mosaicism in epidermolysis bullosa and subsequently using the revertant keratinocytes in a pre-clinical mouse model suitable to test revertant cell therapy
2009 RHORCOD Audo Isabelle Comprehensive analysis of rod-cone photoreceptor degeneration associated with rhodopsin gene mutations
2011 EDEN Marignier Romain Eugène Devic European Network: establishment and use of an European database and biological bank for research and treatment in acute neuromyelitis optica and related disorders
2011 SkinDev Hennies Hans Christian In vitro and in vivo models of congenital rare skin diseases for molecular characterization and drug screening
2011 MTMPathies2 Bolino Alessandra MTM1 and MTMR2 myotubularins: biochemical activity and the regulation of membrane trafficking in health and disease
2011 WHIM-Thernet Bachelerie Françoise WHIM syndrome: Pathological basis and development of therapeutic molecules
2011 TRANSPOSMART Scherman Daniel An innovating platform using transposon and S/MAR for von Willebrand disease gene therapy
2011 Euro-SCAR Koenig Michel Nosology and molecular diagnosis of the degenerative recessive ataxias
2011 GENOMIT Meitinger Thomas Mitochondrial Disorders – Connecting Biobanks, Empowering Genetic Diagnostics and Exploring Disease Models
2011 HEMO-iPS Barquinero Jorge Use of patient-specific induced pluripotent stem cells to improve diagnosisand treatment of hemophilia A
2011 Rare-G Moeller Marcus The Epidermal Growth Factor System in Rare Glomerular Disease: From Molecular Mechanisms to Therapeutics
2011 EURO-CDG Matthijs Gert A European research network for a systematic approach to CDG and related diseases
2011 IPF-AE Prasse Antje Acute Exacerbation of Idiopathic Pulmonary Fibrosis: Mechanism and Biomarkers
2011 CRANIRARE-2 Wollnik Bernd An integrated clinical and scientific approach for craniofacial malformations
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