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 : contact@fondation-maladiesrares.com

www.fondation-maladiesrares.org

© p

hoto

s : f

otol

ia, i

stoc

k, g

etty

imag

es, I

nser

m e

t Fo

ndat

ion

mal

adie

s ra

res.

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