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PROJETS SOUTENUSAméliorer le parcours de vie des personnes malades
• Appel à projets “Sciences humaines et sociales & maladies rares” 2012
• Appel à projets “Création de modèles expérimentaux” 2013
Responsable du projet Ville Titre du projet
Jeanne Amiel Paris Proposal to create a mouse model of Epiphyseal, Vertebral, and Ear (EVE) dysplasia by generating Hspa9 knockout mice
Sabine Bailly Grenoble BMP10 in Hereditary Hemorrhagic Telangiectasia (HHT) disease
Marie-Christine Chaboissier Nice Analysis of R-spondin1 functions in transdifferentiation and maintenance of the ovary
Delphine Delacour Paris Functional characterization of Spint2 in intestinal morphogenesis - Physiopathological repercussions in the pathogenesis of Congenital Tufting Enteropathy (CTE)
Luc Dupuis Strasbourg Generation of an inducible model of amyotrophic lateral sclerosis through conditional truncation of fus/als
Claire Francastel Paris Creation and epigenetic/phenotypic characterization of a mouse model for the ICF type II syndrome
Fiona Francis Paris Molecular and cellular causes, and physiopathology of heterotopia
Laurent Gouya Paris Antisense oligonucleotide therapeutic strategy in EPP: Development of a humanized mouse model
Alain Hovnanian Paris Development of a murine model overexpressing human Kallikrein 14 in the context of Netherton syndrome
Thierry Léveillard Paris Inactivation of the thioredoxin-like protein RdCVFL encoded by the Nucleoredoxin-like-1 gene: RdCVFL-/- mouse
Alain Lilienbaum Paris A mouse model for desmin-related myopathies
Antoine Martinez Clermont Pathogenic potential of R1α truncated mutants found in severe forms of Carney complex
Jean-Jacques Mercadier Châtenay-Malabry Advances in the understanding and treatment of Catecholamine Polymorphic Ventricular Tachycardia (CPVT)
Michael Mitchell Marseille Role of the homologue of a human oligozoospermia factor gene, during mouse spermatogenesis
Rima Nabbout Paris KI Mouse model for Migrating partial seizures in infancy
Hamid Reza Rezvani Bordeaux Role of NADPH oxidase 1 in Xeroderma pigmentosum C
Frédéric Saudou Grenoble Huntington’s disease: modelling huntingtin proteolysis in mouse (proteo-htt)
Michaël Sebbagh Marseille STRAD beta involvement in Peutz-Jeghers syndrome
Responsable(s) du projet Ville Titre du projet
Philippe Allain Angers Behavioural disorders in Huntington’s disease: Analysis and valorization of the expertise of the patients and their caregivers
Hervé Chambost Marseille Input of a multidisciplinary management approach in announcing the diagnosis for young children with serious constitutional haemorrhagic diseases and their families
Séverine Colinet Laurence Heidet
Gennevilliers Announcement of a severe renal foetal pathology detected during pregnancy
Federico Di Rocco Paris Craniosynostosis: how to improve the announcement of the diagnosis and support patients and their families?
Anne-Chantal Hardy Nantes Sociological approach to lifestyle habits of adults with myotonic dystrophy type 1
Mélanie Jacquot Strasbourg Clinical and psychopathological approach of neuromuscular disease on gender identity
Pascal Joly Rouen Identification of vulnerability factors in the course of pemphigus patients
Philippe Metellus Marseille Psychosocial consequences of screening for Von Hippel-Lindau disease in patients operated for an hemangioblastoma of the central nervous system
Virginie Postal - Le Dorse Bordeaux Assessment of the impact of cognitive, executive and emotional abilities on the difficulties of adaptation and socialization of patients with Prader-Willi Syndrome (PWS)
Maria Teixeira Paris Transition and insertion in the adult world of young people with sickle cells disease or cystic fibrosis
Fondation maladies rares
Plateforme maladies rares 96, rue Didot • 75014 Paris
Tél. : + 33 (0) 1 58 14 22 81 • Fax : + 33 (0) 1 58 14 22 88 courriel : [email protected]
www.fondation-maladiesrares.org
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projets soutenus 2012 et 2013 • fondation maladies raresfondation maladies rares • projets soutenus 2012 et 2013
Comprendre les maladies rares
Responsable du projet Ville Titre du projet
Jeanne Amiel Paris Identification of the molecular bases of a rare neurocristopathy leading to congenital malformation and tumour predisposition
Marc Bartoli - Martin Krahn Marseille Identification of a disease-causing gene for IBMPFD / ALS (Inclusion Body Myositis, Paget disease and Fronto-temporal - Dementia/Amyotrophic Lateral Sclerosis)
Jérôme Bertherat Paris Genetic of macronodular adrenocortical hyperplasia
Céline Bouchet-Seraphin Paris Identification of a novel gene responsible for lissencephaly type II in a consanguineous multiplex family
Patrice Bouvagnet Lyon Hypoplastic Left Heart Syndrome (HLHS)
Nicolas Chassaing Toulouse Identification of new anophthalmic/microphthalmic genes by exome sequencing
Cyril Goizet Bordeaux Identification of a gene involved in a new syndrome associating lipodystrophy and leukodystrophy (LLD syndrome)
Pascale Guicheney Paris Identification of a new gene responsible for idiopathic ventricular fibrillation associated with short-coupled variant of torsade de pointes
Andreas Hartmann Paris Identification of variants and genes involved in Gilles de la Tourette syndrome
Cécile Julier Paris Identification of a gene responsible for neonatal diabetes mellitus
Rima Nabbout Paris Exome sequencing to identify genes associated with myoclonic astatic epilepsy
Karine Poirier Paris Identification of new genes involved in subcortical band heterotopia
Cécile Saint-Martin Paris Identification of the gene(s) responsible for dominant congenital diazoxide-responsive hyperinsulinism in a large family
Christel Thauvin-Robinet Dijon Identification of the gene(s) implicated in OFD syndrome with median defects
Sandrine Vuillaumier-Barrot Paris Exome sequencing of one CDG Ix patient (congenital disorder of glycosylation type I) in a family with one healthy sibling
• 1er appel à projets “Séquençage à haut débit” 2012 • 1er appel à projets “Séquençage à haut débit” 2013
Responsable(s) du projet Ville Titre du projet
Marie-Christine Alessi Marseille Identification of new causes of hereditary macrothrombocytopenia
Catherine Badens Marseille Application of high throughput sequencing to the study of patients suffering from metabolic syndrome with an abnormal nuclear cell profile
Thierry Bienvenu Paris Identification of new genes involved in neonatal epileptic encephalopathies associated with Rett-like features
Agnès Bloch-Zupan Illkirch Identification of a gene involved in the enamel knot signaling centre and dental cusps morphogenesis and anomalies
Thierry Brue - Serge Amselem Paris Exome project in combined pituitary hormone deficiency study
Lydie Burglen Paris Identification of congenital ataxias genes by exome sequencing
Patrick Callier Dijon Identification of the gene for Pai syndrome through complete exome sequencing
Philippe Chevalier Lyon Identification of novel gene responsible for familial atrial fibrillation
Gwenaelle Collod-Beroud Marseille In search of new genes responsible for dystonia
Stéphane Decramer Toulouse Identification of new genes involved in congenital hyperechogenic kidneys
Bernard Grandchamp Paris Identification of causative gene(s) in rare inherited microcytic anemias
Delphine Héron Paris Identification of the gene involved in a new form of syndromic recessive intellectual deficiency
Jocelyn Laporte Illkirch Identification of novel genes implicated in different myopathies by exome sequencing
Guy Lenaers Montpellier New genes for autosomal dominant optic atrophy
Gaël Manes Montpellier Identification of novel genes in autosomal dominant retinitis pigmentosa in three extensively pre-screened large families
Sophie Nicole Paris Search for the gene responsible for the hereditary neuropathy with thermosensitivity (complementary whole exome)
Sylvie Odent Rennes Whole exome sequencing in Köhlschutter-Tonz syndrome with probable autosomal dominant transmission
Véronique Paquis-Fluckinger Nice Mitochondrial diseases with multiple respiratory chain deficiency: identification of new genes by exome sequencing
Pierre Ray Grenoble Investigation of the genetic aetiology of oocyte maturation failure (OMF) by exome sequencing
Frédéric Rieux-Laucat Paris Identification of genetic factors involved in the pathophysiology of early-onset Systemic Lupus Erythematosus
Frank Ruemmele Paris Genetic causes of very-early onset inflammatory bowel diseases
Annick Toutain Tours Identification of the causal gene of a rare syndrome comprising intellectual disability, glaucoma and spastic paraplegia
Pierre Vabres Dijon Identification of postzygotic mutations in SACRAL/PELVIS syndrome
Sandrine Vuillaumier-Barrot Paris Exome sequencing of one CDG Ix patient (congenital disorder of glycosylation type I) presenting with a novel biochemical phenotype
• 2nd appel à projets “Séquençage à haut débit” 2012
• 2nd appel à projets “Séquençage à haut débit” 2013
Responsable du projet Ville Titre du projet
Benoît Arveiler Bordeaux Exome sequencing to find new gene(s) involved in oculocutaneous albinism
Stéphane Bézieau Nantes Whole-exome sequencing of a cohort of patients with inherited forms of zinc deficiency acrodermatitis enteropathica-like
Patrice Bouvagnet Lyon Tetralogy of Fallot
Pascale de Lonlay Paris Identification of the gene(s) responsible for recessive rhabdomyolysis in 10 patients from 5 families presenting the same phenotype
Hélène Dollfus Strasbourg Novel genes identification in Bardet-Biedl Syndrome (BBS)
Fabienne Escande Lille Identification of new genes involved in Holt Oram Syndrome by Exome Sequencing
Bertrand Isidor Nantes Identification of the disease causing gene in sporadic and familial forms of Camurati- Engelmann syndrome not linked to TGFB1
Cécile Julier Paris Identification of genes responsible for monogenic forms of juvenile onset insulindependent diabetes
Rima Nabbout Paris Exome sequencing to identify genes associated with Febrile Induced Refractory Epilepsy in School (FIRES)
Richard Redon Nantes A genetic survey on Early Repolarisation Syndrome
Pascale Richard Paris Identification of new genes associated with inherited cardiomyopathies
Agnès Rötig Paris Targeted region sequencing in hepatic failure of mitochondrial origin
Sophie Saunier Paris Identification of new genes involved in nephronophthisis
Alain Taïeb Bordeaux TFIIH sequencing of a new TTD (trichothiodystrophy) phenotype
Mathilde Varret Paris Identification of new genes involved in rare forms of autosomal dominant hypercholesterolemia
Responsable du projet Ville Titre du projet
Corinne Antignac Paris Identification of genes involved in autosomal recessive steroid-sensitive nephrotic syndrome (SSNS)
Mathieu Barbier Paris Identification of new gene involved in familial thoracic aortic aneurysm and dissection (FTAAD)
Valérie Cormier-Daire Paris Further identification of the molecular basis of the spondylodysplastic dysplasias group through the study of 6 families
Federico Di Rocco Paris Exome sequencing of familiar isolated scaphocephalies
Séverine Drunat Paris Baraitser-Winter syndrome – searching causal genes in patients without ACTB/G1 mutations
Claude Férec Brest Search for a new locus involved in dominant cystic kidney disease
Patricia Fergelot Bordeaux Exome study in Rubinstein-Taybi syndrome patients with no alteration in the CREBBP and EP300 genes
Emmanuel Flamand-Roze Paris Identification of new genes involved in paroxysmal kinesigenic dyskinesias
Alexandra Henrion-Caude Paris Biliary atresia in consanguineous and familial cases
Claude Jardel Paris Towards the identification of novel genes involved in mitochondrial functions in genetically and biochemically informative patients
Sylvain Latour Paris Molecular identification of novels forms of inherited lymphoproliferation syndromes associated with a susceptibility to EBV infection
Gaëtan Lesca Lyon Identification of novel genes involved in West syndrome in ten patients with extensive pre-screening
Cyril Mignot Paris Identification of a gene involved in septo optic dysplasia with schizencephaly
Éric Pasmant Paris Exome sequencing for identification of the gene responsible for a rare familial midgut carcinoid tumor syndrome
Véronique Pingault Créteil Identifying new genes of Waardenburg syndrome
Jean-Baptiste Rivière Dijon Unraveling the genetic basis of spondylocostal dysostosis
Jean-Jacques Schott Nantes Genetic analysis of inherited mitral valve prolapse
Florent Soubrier Paris Genetics of hereditary hemorrhagic telangiectasia
Annick Toutain Tours Identification of the causal gene in a family with non specific X-linked disability
Rosa Vargas Poussou Paris Identification of new gene(s) responsible for recessive distal Renal Tubular Acidosis
Laurent Villard Marseille Identifying genetic causes of early infantile epileptic encephalopaties
Stéphane Viville Illkirch Genetics of male infertility: genes implicated in non-obstructive azoospermia
Sandrine Vuillaumier-Barrot Paris Exome sequencing of 8 patients with a neurologic form of type I congenital disorder of glycosylation