Agence National de la Recherche (ANR)

2015

  • DBA-MULTIGENES: identification and characterization of candidate genes to gain new mechanistic insight into Diamond-Blackfan anemia pathophysiology. (website)
  • Genetic susceptibility and biomarkers in listeriosis
  • Genetics and Pathophysiology of Primary Macronodular Hyperplasia Adrenocortical Hyperplasia (website)
  • Heterogeneity and quiescence of muscle stem cells
  • HUMAn Neuromuscular Integrative System for drug discovery (website)
  • Identifying The Drivers Of Lung Resident Vascular Progenitors Recruitment Contributing To Pulmonary Arterial Hypertension Development (website)
  • IntraCranial ANeurysms: From familial forms to pathophysiological mechanisms (website)
  • KI mouse models and pathophysiology of cortical development malformations associated with dysfunction of tubulin and microtubule-interacting proteins
  • Mechanisms of LOCal control of ALDOsterone production in the adrenal gland and their relevance for the pathogenesis of primary aldosteronism (website)
  • Molecular and pathophysiological bases of congenital glycosylation diseases
  • PAR2 signaling and associated therapeutic targets in inflammatory skin pathologies (website)
  • Pathophysiological Implication of Sumoylation in Intellectual Disability (website)
  • Pathophysiology Of The Costello Syndrome: Study In Mice And Cell Models (website)
  • Resistance to thyroid hormone due to TRa1 mutation: an emerging genetic disease  (website)
  • Study of genetic abnormalities unexplained erythrocytosis
  • The regulation of central respiratory drive by progestins alone or in combination with serotoninergic and orexinergic drugs, a therapeutic perspective for the treatment of central hypoventilations? (website)
  • Therapeutic innovations for liver diseases caused by defects in the biliary transporter ABCB4/MDR3 (website)
  • Treatment of Pompe disease by modulating splicing
  • Tricho-hepato-enteric syndrome : from abnormal RNA decay to disease (website)
  • Understanding the mechanisms of deafness by using intersectional genetics and functional analysis in the mouse (website)

2014

  • A genetic survey on sudden cardiac death (website)
  • A role for endocytic proteins in muscle mechanotransduction (website)
  • An innovative therapeutic strategy to treat residual sleepiness in narcolepsy (website)
  • Autoimmune mechanisms involved in narcolepsy with cataplexy (website)
  • Childhood invasive pneumococcal disease: toward the identification of novel primary immunodeficiencies (website)
  • Deciphering tuberculosis pathogenesis by identifying single-gene inborn errors of immunity in severe childhood forms of the disease (website)
  • Development, Microenvironment and genetic alterations in adrenal and bone lesions of Carney complex (website)
  • Dystrophins In The Nervous System: From Neurophysiology to Molecular Therapy (website)
  • Early epileptic encephalopathies caused by KCNQ2 mutations : from cellular physiology to therapeutic approaches (website)
  • FLY-SMALS: Common RNA-dependent pathways for motor-neuron degeneration in spinocerebellar muscular atrophy and amyotrophic lateral sclerosis (website)
  • From knowledge base of the pathogenic astrocyte-motoneuron communication in amyotrophic lateral sclerosis to therapeutic approaches (website)
  • Homeotic transformation of the jaw and central respiratory disorders in Auriculo-Condylar syndrome (website)
  • Huntingtin and the control of long distance transport of synaptic / extrasynaptic signals in health and disease (website)
  • In vivo proof of concept of molecules against hemolytic uremic syndrome (website)
  • Inborn errors of immunity to HSV-1 underlying childhood herpes simplex encephalitis: an exception or a rule? (website)
  • Mechanisms of auto-immune encephalitis (website)
  • Mechanistic and biological determinants of chronic vasculopathy in sickle cell disease (website)
  • Modeling Monogenic Diabetes (website)
  • Molecular bases for the role of IFT172 in ciliogenesis and in ciliopathy (website)
  • NETCALS (Network of Cohort Assessment in ALS) (website)
  • NMDA receptors, Unexpected TargetS in pulmonary arterial hypertension (website)
  • Non-Atheromatous Aortopathies : From Genetics To New Pathophysiological And Therapeutic Concepts (website)
  • Postnatal development of the brain oxytocin system and Prader-Willi syndrome (website)
  • Predict to prevent frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS) (website)
  • Primary immunodeficiencies associated with susceptibility to Epstein Barr virus infection : studies from natural mutants to gene functions (website)
  • Protease-activated Receptor-2 and its agonist serine proteases in idiopathic pulmonary fibrosis (website)
  • RADiosensitizing nanoparticules for therapy against CHONDrosarcoma. A preclinical proof of concept. (website)
  • Role and mechanism of alpha-synuclein and ataxin-3 spreading in Parkinson and Machado-Joseph diseases (website)
  • Role of dynamin 2 in muscle under normal and pathological conditions (website)
  • Role of the striatal cholinergic system in the pathophysiology of dystonia : a translational study (website)
  • Study of the association of microRNA and mitochondria and their role in regulation of neuronal cell death in Fragile X Tremor Ataxia Syndrome (FXTAS) (website)
  • Systemic injection in the Golden Retriever Muscular Dystrophy dog of a recombinant adeno-associated virus encoding for the canine µdystrophin: Determination of the therapeutic dose that improves skeletal muscle function and cardiac performances (website)
  • Validation and optimization of new therapeutic compounds against Chagas disease (website)
  • Validation of molecular neuroimaging biomarkers in Huntington’s disease in view of therapeutic trials targeting the Krebs cycle (website)

2013

  • Consequences of DNA repair and telomere defects on the function of the Immune System: application to CVID and immune deficiencies with dysmorphic syndromes (website)
  • Cytotoxic Lymphocytes In Cutaneous Drug Allergy. Identification of severity biomarkers to improve prediction, prevention and therapy (website)
  • Epileptogenic Developmental Disorders: Integrated approach to improve diagnosis and understanding of pathophysiological mechanisms (website)
  • Genetic Investigation of Fibromuscular Dysplasia (website)
  • Identification of new causative genes in spinocerebellar degenerations by combination of whole genome scan, next-generation sequencing and biological validation in vitro and in vivo (website)
  • Impact of malaria in early pregnancy on fetal growth in Benin (website)
  • K8/F508del-CFTR, a new target for corrector therapy in cystic fibrosis (website)
  • Molecular characterization of apparently balanced chromosomal rearrangements by next-generation sequencing in 55 patients with intellectual disability and/or multiple congenital anomalies (website)
  • Molecular mechanisms of Facio-Scapulo-Humeral Dystrophy: from the contribution of genomics to the mecanisitic exploration of new regulatory pathways for the 4q35 locus (website)
  • Neoglycoenzyme for lysosomal disease therapy (website)
  • Novel function of ATXN7 in cilia and impact on the SCA7 pathogenesis (website)
  • Role of Cyp46 in cholesterol metabolism and neuroprotection in Huntington’s Disease (website)
  • Role of HSP70 in normal and pathological erythropoiesis (website)
  • Shear stress-regulated interactions between von Willebrand factor and lipoprotein-receptor LRP1: basic aspects and pathophysiological consequences  (website)
  • Study of familial myeloproliferative neoplasms : search for genetic abnormalities and their functions (website)
  • Therapeutic potential of AMPK activators for correction of mitochondrial fatty acid ß-oxidation disorders (website)
  • Toward immune Biomarkers for Tolerance and GvHD in Humans (website)
  • Validation of PRIMA-1MET and TALEN as a therapeutic tools for visual deficient EEC syndrome (website)

2012

  • Achondroplasia: Therapeutical approach with irreversible FGFR3-tyrosine kinase inhibitor (website)
  • Characterization of a New pathway of Blood Pressure regulation through Kidney Ion Transport (website)
  • Cochlear hair cell endoplasmic reticulum homeostasis and deafness (website)
  • Deciphering Critical Switches for Glomerular Demolition (website)
  • Drug repurposing for nonsense-mediated Cystic Fibrosis and Hemophilia (website)
  • Dysregulation of lipid metabolism on photoreceptor function and viability : The role of FATP genes in Drosophila and mice models (website)
  • Elucidation of function and role in retina pathophysiology of the G protein-coupled receptor GPR179 (website)
  • Fighting Friedreich’s Ataxia: combining multi-organisms screening and chemical optimization to generate new therapeutic molecules for FA (website)
  • Genetic components of podocyte differentiation and disease (website)
  • Identification and investigation of a gene involved in monogenic forms of Goldenhar syndrome (website)
  • Molecular bases and pathophysiology of hemophagocytic syndromes (website)
  • Molecular dissection of membranous nephropathy: Moves toward personalized therapy and monitoring (website)
  • New therapeutic strategy for Huntington’s disease (website)
  • Role of SPOCK2 in susceptibility of premature infants to bronchopulmonary dysplasia (website)
  • Role of very long chain fatty acids in muscle pathophysiology (website)
  • Understanding and treating neuronal trafficking defects in Mecp2-pathies (website)

 

2011

  • Copper chelators targeted at the liver: a innovative treatment of hepatic copper overload (website)
  • Epidemiology and physiopathology of delayed hemolytic transfusion reaction in sickle cell disease patients (website)
  • Establishment of innovative and proprietary methods for the manufacturing and quality control testing of a clinical grade gene therapy vector for the treatment of patients affected with a pigmented retinopathy secondary to a mutation in the pde6ß gene (website)
  • First study in France seraching a link between Amyotrophic Lateral Sclerosis and BMAA’s cyanotoxin (website)
  • Generation of mice with targeted mutation of the mitochondrial DNA (website)
  • Genetic basis of intellectual disability and other cognitive disorders (website)
  • Glycogen storage disease type 1a: from physiopathology to liver gene therapy (website)
  • Mechanisms of acquired and familial thrombocytosis (website)
  • Mesothelial cells and idiopathic pulmonary fibrosis (website)
  • Molecular basis of immune tolerance after gene transfer (website)
  • Molecular Deciphering Of Malignancy in Pheochromocytoma and Paranganglioma (website)
  • Pathological consequences of von Willebrand factor-platelet glycoprotein Ib interaction: type 2B von Willebrand disease as a study model (website)
  • Physiological Consequences of Fragile X Mental Retardation Protein Sumoylation (website)
  • Rfx6 in pancreatic and intestinal endocrine cell differentiation and function (website)
  • Structural characterization of protein states involved in Huntington’s disease by integrative approaches (website)
  • Structure and function of ribonucleoprotein complexes assembly factors involved in human pathologies (website)
  • Structure-properties relationship within highmolecular weight protein oligomeric species associated to Parkinson’s and Huntigton diseases (website)
  • The cortical mechanisms of associative learning and of its deficits in Fragile X syndrome (website)
  • The Na+/H+ exchangers of intracellular compartments. Biochemical and pharmacological characterization. Physiological roles and impact in neurological diseases (website)

 

2010

  • Diamond-Blackfan Anemia, a paradigm for ribosomal diseases (website)
  • Early abnormalities in a mouse model for myotonic dystrophy : a model for Congenital Myotonic Dystrophy ? (website)
  • Epigenetic, Genetic and Fetal Growth (EPIFEGRO) (website)
  • Generation of induced-pluripotent stem (iPS) cells from normal and retinitis pigmentosa patients for phenotype screening of photoreceptor differentiation and studying photoreceptor disease mechanisms (website)
  • Genetic determinism and functional and pharmacological evaluation of spinocerebellar degenerative disorders linked to lipid gene mutations (website)
  • Genetics and pathophysiology of macronodular adrenal hyperplasia (website)
  • Genetics of cortical dysgenesis (CD) and pathophysiology of Tubulin-related forms (TrCD)  (website)
  • Genomic alteration of conserved non coding sequences in human malformation (website)
  • Implication and rescue of Tau mis-splicing in myotonique dystrophy (website)
  •  Influence of the amount of mitochondrial DNA on energy metabolism: implications for mitochondrial diseases (website)
  • Kainate receptors in acute and chronic mouse models of epilepsy (website)
  • Metabolic management of neuronal hyperexcitability: a new approach to treat epilepsy (website)
  • Modeling and therapeutic approaches of liver inherited disorders with patient-specific iPS cells (website)
  • Molecular analysis of immunoglobulin class switch recombination through the study of his defects in humans (website)
  • Molecular and cellular mechanisms of Meckel/Joubert ciliopathy (website)
  • Molecular bases of CXCR4 dysfunctions in rare immunodeficiency disorders (website)
  • Neonatal Fc receptor-mediated tolerance induction in alloimmune and autoimmune conditions (website)
  • Pathophysiologic role of HDAC6 overexpression consecutive to a mutation abrogating a miRNA-mediated post-transcriptional regulation in a X-linked chondrodysplasia (website)
  • Phenotypical monotony and genetic diversity of non-atherosclerotic arterial disease (website)
  • Physiopathological mechanisms of episodic (EA2) and related progressive ataxia (website)
  • Pre-clinical assessment of pluripotent stem cell therapy for Huntington’s disease (website)
  • Role of AML1 in pathological hematopoiesis linked to the familial platelet disorder with a predisposition to acute myeloid leukaemia (FPD/AML) (website)
  • Role of Anks6 and its partners in kidney cystic disease (website)
  • Role of Microglia in Epilepsy (website)
  • Selective modulation of reactive astrocytes : In vivo monitoring by magnetic resonance and contribution to neuronal death in Huntington’s disease  (website)
  • Thalidomide stimulates vessel maturation: new strategy to treat vascular malformations in Hereditary Hemorrhagic Telangiectasia (website)
  • The potassium-chloride transporter KCC2: a new target for the treatment of neurological diseases (website)