Moteur de recherche
Nos lauréats et leurs projets
Voici le moteur de recherche des lauréats de la Fondation Maladies Rares depuis 2012.
C’est très simple, entrez les premières lettres d’un nom de chercheur ou d’une maladie dans la barre de recherche située à droite. Vous pouvez également trier les éléments du tableau.
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Année | Chercheur | Ville | Financeur | Groupe de maladie / maladie | Titre |
---|---|---|---|---|---|
2012 | Jeanne AMIEL | Paris | Fondation Maladies Rares | Neurocristopathy | Identification of the molecular bases of a rare neurocristopathy leading to congenital malformation and tumour predisposition |
2012 | Jerôme BERTHERAT | Paris | Fondation Maladies Rares | Macronodular adrenal hyperplasia | Genetic of macronodular adrenocortical hyperplasia (GENEHYPER) |
2012 | Celine BOUCHET-SERAPHIN | Paris | Fondation Maladies Rares | Cobblestone lissencephaly | Identification of a novel gene responsible for lissencephaly type II in a consanguineous multiplex family |
2012 | Pascale GUICHENEY | Paris | Fondation Maladies Rares | Idiopathic ventricular fibrillation- Brugada syndrome | Identification of a new gene responsible for idiopathic ventricular fibrillation associated with short-coupled variant of torsade de pointes |
2012 | Andreas HARTMANN | Paris | Fondation Maladies Rares | Tourette syndrome | Identification of variants and genes involved in Gilles de la Tourette syndrome |
2012 | Cecile JULIER | Paris | Fondation Maladies Rares | Neonatal diabetes mellitus | Identification d’un gene responsable de diabete neonatal syndromique |
2012 | Rima NABBOUT | Paris | Fondation Maladies Rares | Epilepsy with myoclonic-astatic seizures | Exome sequencing to identify genes associated with myoclonic astatic epilepsy |
2012 | Karine POIRIER | Paris | Fondation Maladies Rares | Subcortical band heterotopia | Identification of new genes involved in subcortical band heterotopia |
2012 | Cecile SAINT-MARTIN | Paris | Fondation Maladies Rares | Autosomal dominant hyperinsulinism | Identification of the gene(s) responsible for dominant congenital diazoxide-responsive hyperinsulinism in a large family |
2012 | Sandrine VUILAUMIER-BARROT | Paris | Fondation Maladies Rares | Type I congenital disorder of glycosylation | Exome sequencing of one CDG Ix patient (congenital disorder of glycosylation type I) in a family with one healthy sibling |
2012 | Christel THAUVIN-ROBINET | Dijon | Fondation Maladies Rares | Orofaciodigital syndrome | Identification in the gene(s) implicated in OFD syndrome with median defects |
2012 | Patrice BOUVAGNET | Lyon | Fondation Maladies Rares | Hypoplastic left heart syndrome | Hypoplastic Left Heart Syndrome (HLHS) |
2012 | Marc BARTOLI | Marseille | Fondation Maladies Rares | Inclusion Body Myositis, Paget disease and Fronto-temporal Dementia/Amyotrophic Lateral Sclerosis | Identification of a disease-causing gene for IBMPFD / ALS (Inclusion Body Myositis, Paget disease and Fronto-temporal Dementia/Amyotrophic Lateral Sclerosis) |
2012 | Nicolas CHASSAING | Toulouse | Fondation Maladies Rares | Anophthalmia - microphthalmia | Identification of new anophthalmic/microphthalmic genes by exome sequencing |
2012 | Cyril GOIZET | Bordeaux | Fondation Maladies Rares | Lipodystrophy and leukodystrophy syndrome | Identification of a gene involved in a new syndrome associating lipodystrophy and leukodystrophy (LLD syndrome) |
2012 | Sylvie ODENT | Rennes | Fondation Maladies Rares | Amelo-cerebro-hypohidrotic syndrome (Kohlschütter-Tönz syndrome) | Whole exome sequencing in Köhlschutter-Tonz syndrome with probable autosomal dominant transmission |
2012 | Annick TOUTAIN | Tours | Fondation Maladies Rares | Spastic paraplegia - glaucoma - intellectual deficit | Identification of the causal gene of a rare syndrome comprising intellectual disability, glaucoma and spastic paraplegia |
2012 | Thierry BIENVENU | Paris | Fondation Maladies Rares | Neonatal epileptic encephalopathies | Identification of new genes involved in neonatal epileptic encephalopathies associated with Rett-like features |
2012 | Thierry BRUE Serge AMSELEM | Paris | Fondation Maladies Rares | Pituitary hormone deficiency | Exome Project In Combined Pituitary Hormone deficiency (EPIC) Study |
2012 | Lydie BURGLEN | Paris | Fondation Maladies Rares | Congenital cerebellar ataxia | Identification of congenital ataxias genes by exome sequencing |
2012 | Bernard GRANDCHAMP | Paris | Fondation Maladies Rares | Microcytic anemia | Identification of causative gene(s) in rare inherited microcytic anemias |
2012 | Delphine HERON | Paris | Fondation Maladies Rares | Intellectual deficiency syndrome | Identification of the gene involved in a new form of syndromic recessive intellectual deficiency |
2012 | Sophie NICOLE | Paris | Fondation Maladies Rares | Hereditary thermosensitive neuropathy | Search for the gene responsible for the hereditary neuropathy with thermosensitivity (complementary whole exome) |
2012 | Frederic RIEUX-LAUCAT | Paris | Fondation Maladies Rares | Systemic lupus erythematosus | Identification of genetic factors involved in the pathophysiology of early-onset Systemic Lupus Erythematosus |
2012 | Franck RUMMELE | Paris | Fondation Maladies Rares | Bowel disease | Genetic causes of very-early onset inflammatory bowel diseases |
2012 | Sandrine VUILLAUMIER-BARROT | Paris | Fondation Maladies Rares | Type I congenital disorder of glycosylation | Exome sequencing of one CDG Ix patient (congenital disorder of glycosylation type I) presenting with a novel biochemical phenotype |
2012 | Agnes BLOCH-ZUPAN | Illkirch | Fondation Maladies Rares | Enamel knot and dental cusps anomaly | Morphodent : Identification of a gene involved in the enamel knot signaling centre and dental cusps morphogenesis and anomalies |
2012 | Patrick CALLIER | Dijon | Fondation Maladies Rares | Pai syndrome | Identification of the gene for Pai syndrome through complete exome sequencing |
2012 | Jocelyn LAPORTE | Illkirch | Fondation Maladies Rares | Myopathies | Identification of novel genes implicated in different myopathies by exome sequencing |
2012 | Pierre VABRES | Dijon | Fondation Maladies Rares | SACRAL/PELVIS syndrome | Identification of postzygotic mutations in SACRAL/PELVIS syndrome |
2012 | Philippe CHEVALIER | Lyon | Fondation Maladies Rares | Familial atrial fibrillation | Identification of novel gene responsible of familial atrial fibrillation |
2012 | Pierre RAY | Grenoble | Fondation Maladies Rares | Oocyte maturation failure | Investigation of the genetic aetiology of oocyte maturation failure (OMF) by exome sequencing. |
2012 | Marie-Christine ALESSI | Marseille | Fondation Maladies Rares | Macrothrombocytopenia | Identify new causes of hereditary Macrothrombocytopenia |
2012 | Catherine BADENS | Marseille | Fondation Maladies Rares | Metabolic disease | Application of high throughput sequencing to the study of patients suffering from metabolic syndrome with an abnormal nuclear cell profile |
2012 | Gwenaelle COLLOD-BEROUD | Marseille | Fondation Maladies Rares | Focal dystonia | In search of new genes responsible for dystonia |
2012 | Guy LENAERS | Montpellier | Fondation Maladies Rares | Autosomal dominant optic atrophy | New genes for Autosomal Dominant Optic Atrophy |
2012 | Gaël MANES | Montpellier | Fondation Maladies Rares | Retinitis pigmentosa | Identification of novel genes in autosomal dominant retinitis pigmentosa in three extensively pre-screened large families |
2012 | Veronique PAQUIS-FLUCKINGER | Nice | Fondation Maladies Rares | Mitochondrial diseases | Mitochondrial diseases with multiple respiratory chain deficiency : Identification of new genes by exome sequencing |
2012 | Stephane DECRAMER | Toulouse | Fondation Maladies Rares | Congenital hyperechogenic kidney | Identification of new genes involved in congenital hyperechogenic kidneys |
2013 | Herve CHAMBOST | Marseille | Fondation Maladies Rares | Haemorrhagic diseases | Input of a multidisciplinary management approach in announcing the diagnosis for young children with serious constitutional haemorrhagic diseases and their families |
2013 | Severine COLINET - Laurence HEIDET | Gennevilliers | Fondation Maladies Rares | Renal fœtal pathology | Announcement of a severe renal foetal pathology detected during pregnancy |
2013 | Federico DI ROCCO | Paris | Fondation Maladies Rares | Craniosynostosis | Craniosynostosis: how to improve the announcement of the diagnosis and support patients and their families? |
2013 | Virginie POSTAL | Bordeaux | Fondation Maladies Rares | Prader-Willi syndrome | Assessment of the impact of cognitive, executive and emotional abilities on the difficulties of adaptation and socialization of patients with PWS |
2013 | Maria TEIXEIRA | Paris | Fondation Maladies Rares | Sickle cell disease - Cystic fibrosis | Transition and insertion in the adult world of young people with sickle cells disease or cystic fibrosis |
2013 | Pascal JOLY | Rouen | Fondation Maladies Rares | Pemphigus | Identification of vulnerability factors in the course of pemphigus patients |
2013 | Philippe METELLUS | Marseille | Fondation Maladies Rares | Von Hippel-Lindau disease | Psychosocial consequences of screening for Von Hippel-Lindau disease in patients operated for an hemangioblastoma of the central nervous system |
2013 | Philippe ALLAIN | Angers | Fondation Maladies Rares | Huntington disease | Behavioural disorders in Huntington's disease: Analysis and valorisation of the expertise of the patients and their caregivers |
2013 | Chantal HARDY | Nantes | Fondation Maladies Rares | Steinert myotonic dystrophy | Sociological approach to lifestyle habits of adults with myotonic dystrophy type 1 |
2013 | Melanie JACQUOT | Strasbourg | Fondation Maladies Rares | Neuromuscular disease | Clinical and psychopathological approach of neuromuscular disease on gender identity |
2013 | Agnes ROTIG | Paris | Fondation Maladies Rares | Hepatic failure of mitochondrial origin | Targeted region sequencing in hepatic failure of mitochondrial origin |
2013 | Alain TAIEB | Bordeaux | Fondation Maladies Rares | Trichothiodystrophy | TFIIH sequencing of a new TTD (trichothiodystrophy) phenotype |
2013 | Benoit ARVEILER | Bordeaux | Fondation Maladies Rares | Oculocutaneous albinism | Exome sequencing to find new gene(s) involved in oculocutaneous albinism |
2013 | Bertrand ISIDOR | Nantes | Fondation Maladies Rares | Camurati-Engelmann disease | Identification of the disease causing gene in sporadic and familial forms of Camurati- Engelmann syndrome not linked to TGFB1 |
2013 | Cecile JULIER | Paris | Fondation Maladies Rares | Juvenile onset insulindependent diabete | Identification of genes responsible for monogenic forms of juvenile onset insulindependent diabetes |
2013 | Fabienne ESCANDE | Lille | Fondation Maladies Rares | Holt-Oram syndrome | Identification of new genes involved in Holt Oram Syndrome by Exome Sequencing |
2013 | Helene DOLLFUS | Strasbourg | Fondation Maladies Rares | Bardet-Biedl syndrome | Novel genes identification in Bardet-Biedl Syndrome (BBS) |
2013 | Mathilde VARRET | Paris | Fondation Maladies Rares | Familial hypercholesterolemia | Identification of new genes involved in rare forms of autosomal dominant hypercholesterolemia |
2013 | Pascale DELONLAY | Paris | Fondation Maladies Rares | Rhabdomyolysis | Identification of the gene(s) responsible for recessive rhabdomyolysis in 10 patients from 5 families presenting the same phenotype |
2013 | Pascale RICHARD | Paris | Fondation Maladies Rares | Inherited cardiomyopathy | Identification of new genes associated with inherited cardiomyopathies. |
2013 | Patrice BOUVAGNET | Lyon | Fondation Maladies Rares | Tetralogy of Fallot | Tetralogy of Fallot |
2013 | Richard REDON | Nantes | Fondation Maladies Rares | Arrhythmia syndromes : Early repolarisation syndrome | A genetic survey on Early Repolarisation Syndrome |
2013 | Rima NABBOUT | Paris | Fondation Maladies Rares | Febrile Induced Refractory Epilepsy in School | Exome sequencing to identify genes associated with FIRES (Febrile Induced Refractory Epilepsy in School) |
2013 | Sophie SAUNIER | Paris | Fondation Maladies Rares | Nephronophthisis | Identification of new genes involved in nephronophthisis |
2013 | Stephane BEZIEAU | Nantes | Fondation Maladies Rares | Acrodermatitis enteropathica, zinc deficiency type | Whole-exome sequencing of a cohort of patients with inherited forms of zinc deficiency acrodermatitis enteropathica-like |
2013 | Alexandra HENRION-CAUDE | Paris | Fondation Maladies Rares | Biliary atresia | Biliary atresia in consanguineous and familial cases |
2013 | Annick TOUTAIN | Tours | Fondation Maladies Rares | X-linked intellectual disability | Identification of the causal gene in a family with non specific X-linked disability |
2013 | Claude FEREC | Brest | Fondation Maladies Rares | Autosomal dominant polycystic kidney disease | Search for a new locus involved in dominant cystic kidney disease |
2013 | Claude JARDEL | Paris | Fondation Maladies Rares | Mitochondrial diseases | Towards the identification of novel genes involved in mitochondrial functions in genetically and biochemically informative patients |
2013 | Corinne ANTIGNAC | Paris | Fondation Maladies Rares | Idiopathic steroid-sensitive nephrotic syndrome | Identification of genes involved in autosomal recessive steroid-sensitive nephrotic syndrome (SSNS) |
2013 | Cyril MIGNOT | Paris | Fondation Maladies Rares | Septo-optic dysplasia | Identification of a gene involved in septo optic dysplasia with schizencephaly |
2013 | Emmanuel FLAMAND-ROZE | Paris | Fondation Maladies Rares | Paroxysmal kinesigenic dyskinesia | Identification of new genes involved in paroxysmal kinesigenic dyskinesias |
2013 | Eric PASMANT | Paris | Fondation Maladies Rares | Carcinoid tumor and carcinoid syndrome | Exome sequencing for identification of the gene responsible for a rare familial midgut carcinoid tumor syndrome |
2013 | Federico DI ROCCO | Paris | Fondation Maladies Rares | Familial scaphocephaly syndrome | Exome sequencing of familiar isolated scaphocephalies |
2013 | Florent SOUBRIER | Paris | Fondation Maladies Rares | Hereditary hemorrhagic telangiectasia | Genetics of hereditary hemorrhagic telangiectasia |
2013 | Gaetan LESCA | Lyon | Fondation Maladies Rares | West syndrome | Identification of novel genes involved in West syndrome in ten patients with extensive pre-screening. |
2013 | Jean-Baptiste RIVIERE | Dijon | Fondation Maladies Rares | Spondylocostal dysostosis | Unraveling the genetic basis of spondylocostal dysostosis |
2013 | Jean-Jacques SCHOTT | Nantes | Fondation Maladies Rares | Familial mitral valve prolapse | Genetic analysis of inherited mitral valve prolapse |
2013 | Laurent VILLARD | Marseille | Fondation Maladies Rares | Early infantile epileptic encephalopathy | Identifying genetic causes of early infantile epileptic encephalopaties |
2013 | Mathieu BARBIER | Paris | Fondation Maladies Rares | Familial thoracic aortic aneurysm and aortic dissection | Identification of new gene involved in familial thoracic aortic aneurysm and dissection (FTAAD) |
2013 | Patricia FERGELOT | Bordeaux | Fondation Maladies Rares | Rubinstein-Taybi syndrome | Exome study in Rubinstein-Taybi syndrome patients with no alteration in the CREBBP and EP300 genes |
2013 | Rosa VARGAS POUSSOU | Paris | Fondation Maladies Rares | Distal renal tubular acidosis | Identification of new gene(s) responsible for recessive distal Renal Tubular Acidosis |
2013 | Sandrine VUILLAUMIER-BARROT | Paris | Fondation Maladies Rares | Type I congenital disorder of glycosylation | Exome sequencing of 8 patients with a neurologic form of type I congenital disorder of glycosylation |
2013 | Severine DRUNAT | Paris | Fondation Maladies Rares | Baraitser-Winter syndrome | Baraitser-Winter syndrome – searching causal genes in patients without ACTB/G1 mutations |
2013 | Stephane VIVILLE | Illkirch | Fondation Maladies Rares | Partial chromosome Y deletion | Genetics of male infertility: genes implicated in non-obstructive azoospermia |
2013 | Sylvain LATOUR | Paris | Fondation Maladies Rares | Inherited lymphoproliferation syndromes | Molecular identification of novels forms of inherited lymphoproliferation syndromes associated with a susceptibility to EBV infection |
2013 | Valerie CORMIER-DAIRE | Paris | Fondation Maladies Rares | Spondylodysplastic dysplasia | Further identification of the molecular basis of the spondylodysplastic dysplasias group through the study of 6 families |
2013 | Veronique PINGAULT | Creteil | Fondation Maladies Rares | Waardenburg syndrome | Identifying new genes of Waardenburg syndrome |
2013 | Jeanne AMIEL | Paris | Fondation Maladies Rares | Epiphyseal, vertebral, and ear dysplasia | Proposal to create a mouse model of EVE dysplasia by generating Hspa9 knockout mice |
2013 | Delphine DELACOUR | Paris | Fondation Maladies Rares | Congenital tufting enteropathy | Functional characterization of Spint2 in intestinal morphogenesis – Physiopathological repercussions in the pathogenesis of CTE |
2013 | Claire FRANCASTEL | Paris | Fondation Maladies Rares | Immunodeficiency, centromeric region instability, facial anomalies syndrome | Creation and epigenetic/phenotypic characterization of a mouse model for the ICF type II syndrome |
2013 | Fiona FRANCIS | Paris | Fondation Maladies Rares | Heterotopia | Molecular and cellular causes, and physiopathology of heterotopia |
2013 | Laurent GOUYA | Paris | Fondation Maladies Rares | Erythropoietic protoporphyria | Antisense oligonucleotide therapeutic strategy in EPP: Development of a humanized mouse model. |
2013 | Thierry LEVEILLARD | Paris | Fondation Maladies Rares | Retinitis pigmentosa | Inactivation of the thioredoxin-like protein RdCVFL encoded by the Nucleoredoxin-like71 gene: RdCVFL7-7 mouse |
2013 | Frederic SAUDOU | Orsay | Fondation Maladies Rares | Huntington disease | Huntington’s disease: modelling huntingtin proteolysis in mouse (proteo-htt) |
2013 | Alain HOVNANIAN | Paris | Fondation Maladies Rares | Netherton syndrome | Development of a murine model overexpressing human Kallikrein 14 in the context of Netherton syndrome |
2013 | Jean-Jacques MERCADIER | Chatenay-Malabry | Fondation Maladies Rares | Catecholaminergic polymorphic ventricular tachycardia | Advances in the understanding and treatment of Catecholamine Polymorphic Ventricular Tachycardia (CPVT) |
2013 | Rima NABBOUT | Paris | Fondation Maladies Rares | Malignant migrating partial seizures of infancy | KI Mouse model for Migrating partial seizures in infancy |
2013 | Alain LILIENBAUM | Paris | Fondation Maladies Rares | Desminopathy | A mouse model for desmin-related myopathies |
2013 | Luc DUPUIS | Strasbourg | Fondation Maladies Rares | Amyotrophic lateral sclerosis | Generation of an inducible model of amyotrophic lateral sclerosis through conditional truncation of fus/als |
2013 | Sabine BAILLY | Grenoble | Fondation Maladies Rares | Hereditary hemorrhagic telangiectasia | BMP10 in HHT disease |
2013 | Antoine MARTINEZ | Clermont | Fondation Maladies Rares | Carney complex | Pathogenic potential of R1α truncated mutants found in severe forms of Carney complex |
2013 | Marie-Christine CHABOISSIER | Nice | Fondation Maladies Rares | Disorders of sex development | Analysis of R-spondin1 functions in transdifferentiation and maintenance of the ovary |
2013 | Michaël SEBBAGH | Marseille | Fondation Maladies Rares | Peutz-Jeghers syndrome | STRAD beta involvement in Peutz-Jeghers syndrome |
2013 | Michael MITCHELL | Marseille | Fondation Maladies Rares | Partial chromosome Y deletion | Role of the homologue of a human oligozoospermia factor gene, during mouse spermatogenesis |
2013 | Hamid-Reza REZVANI | Bordeaux | Fondation Maladies Rares | Xeroderma pigmentosum complementation group C | Role of NADPH oxidase 1 in Xeroderma pigmentosum C |
2014 | Thomas FALGUIÈRES | Paris | Fondation Maladies Rares | Rare hepatobiliary diseases | Identification of targeting correctors of ABCB4/MDR3 defective mutants by a high throughput screening approach |
2014 | Irene CEBALLOS-PICOT | Paris | Fondation Maladies Rares | Lesch-Nyhan Disease | Identify molecules able to induce HPRT-like activity in HPRT-deficient fibroblasts and dopaminergic neuronal cells as models for Lesch-Nyhan Disease |
2014 | Delphine MEYNARD | Toulouse | Fondation Maladies Rares | Non-transfusion-dependent thalassemia | Matriptase-2: identification of pharmacological inhibitors to decrease iron overload in non-transfusion-dependent thalassemia |
2014 | Olfa KHALFALLAH | Nice | Fondation Maladies Rares | Fragile X syndrome | Search for active molecules on a cell model for Fragile X Syndrome by high throughput screening |
2014 | Hanna DEBIEC | Paris | Fondation Maladies Rares | Membranous nephropathy | Searching for C5b-9 antagonists by high-throughput screening of chemical libraries: Toward new treatment of membranous nephropathy |
2014 | Herve DEVILLIERS | Dijon | Fondation Maladies Rares | Systemic lupus erythematosus / Systemic sclerosis / Inflammatory myopathy | Impact of autoimmune disease on quality of life: a qualitative study |
2014 | Alexandre EUSEBIO | Marseille | Fondation Maladies Rares | Progressive supranuclear palsy | Quality of life and caregiver burden in progressive supranuclear palsy |
2014 | Pascal ANTOINE | Villeneuve d'Ascq | Fondation Maladies Rares | Holt-Oram syndrome (HOS) – Nail Patella syndrome (NPS) – Rendu Osler disease (ROD) | Impact of three rare genetic diseases: comparative and exploratory psychosocial research |
2014 | Drina CANDILIS HUISMAN | Paris | Fondation Maladies Rares | Rare diseases with movement disorders | Childbirth and parenthood in women with motor disability related to rare diseases |
2014 | Damien LEGER | Paris | Fondation Maladies Rares | Rare hypersomnia | Professional career path in patients with rare hypersomnias |
2014 | Laurence FAIVRE-OLIVIER | Dijon | Fondation Maladies Rares | Developmental anomalies | Preferences and representations of progress linked to the introduction of high-throughput sequencing technologies with regard to practice in medical genetics: from the example of syndromes with developmental abnormalities. |
2014 | Philippe CHARRON | Paris | Fondation Maladies Rares | Hereditary cardiac diseases | Predictive genetic testing in hereditary cardiac diseases: Evaluation of psycho-social impact and multidisciplinary management |
2014 | Sonia ABDELHAK | Tunis | Fondation Maladies Rares | Consanguinity and hereditary rare disease | Consanguinity and hereditary rare diseases : challenges and perspectives in post genomics |
2014 | Veronique PAQUIS-FLUCKINGER | Nice | Fondation Maladies Rares | Mitochondrial diseases | Early-onset neuromuscular presentations of mitochondrial disorders: identification of new genes by exome sequencing |
2014 | Florent SOUBRIER | Paris | Fondation Maladies Rares | IgA nephropathy (Berger’s disease) | Exome sequencing in two large pedigrees with multiple cases of IgA nephropathy |
2014 | Jean-Louis MANDEL | Illkirch | Fondation Maladies Rares | Intellectual disability/autism | Exome sequencing of patients with intellectual disability and no mutation identified in known genes |
2014 | Patrick CALLIER | Dijon | Fondation Maladies Rares | Frontonasal dysplasia | Genetic basis of frontonasal dysplasia |
2014 | Sandrine VUILLAUMIER | Paris | Fondation Maladies Rares | Glut1 deficiency | Identification of a gene underlying dominant epilepsy in a slc2a1/glut1 negative family (trio analysis) |
2014 | Pascale GUICHENEY | Paris | Fondation Maladies Rares | Idiopathic ventricular fibrillation with short-coupled variant of torsade de pointes | Identification of a new gene causing idiopathic ventricular fibrillation with short-coupled variant of torsade de pointes |
2014 | Karine POIRIER | Paris | Fondation Maladies Rares | Microlissencephaly | Identification of new genes involved in microlissencephaly |
2014 | Patrick REVY | Paris | Fondation Maladies Rares | Severe bone marrow failure, dyskeratosis congenita, Hoyeraal-Hreidarsson syndrome | Identification of new genes involved in severe bone marrow failure associated with telomere and/or dna repair defects |
2014 | Valerie CORMIER-DAIRE | Paris | Fondation Maladies Rares | Ellis-Van Creveld syndrome | Identification of the molecular basis of the Ellis-Van Creveld (EVC) syndrome |
2014 | Sophie NICOLE | Paris | Fondation Maladies Rares | Periodic paralysis | Search for a new gene responsible for periodic paralysis by whole exome analysis of one family and sporadic cases |
2014 | Marion GERARD | Caen | Fondation Maladies Rares | Sirenomelia / mermaid syndrome | Whole-exome sequencing to identify genetic alterations associated with Sirenomelia (ADEP project) |
2014 | Valerie DELAGUE | Marseille | Fondation Maladies Rares | Charcot-Marie-Tooth disease | Identification of novel genes in Charcot-Marie-Tooth disease in lebanese consanguineous families, through homozygous by descent analysis of whole genome sequence data |
2014 | Nadia BAHI-BUISSON | Paris | Fondation Maladies Rares | Aicardi syndrome | Identification of the genetic bases of Aicardi syndrome |
2014 | Damien SANLAVILLE | Lyon | Fondation Maladies Rares | Intellectual disability / congenital malformations | Study of 9 complex chromosomal rearrangements by massively parallel sequencing: an unifying mechanism ? |
2014 | Giovanni STEVANIN | Paris | Fondation Maladies Rares | Hereditary spastic paraplegia | Whole genome sequencing in 5 families with hereditary spastic paraplegia |
2014 | Nadia BAHI-BUISSON | Paris | Fondation Maladies Rares | Cortical Malformations and 22q11.2 deletion syndrome | Delineation of the molecular basis of cortical malformation in 22q11.2 deletion syndrome |
2014 | Eric BIETH | Toulouse | Fondation Maladies Rares | Congenital bilateral absence of the vas deferens (CBAVD) | Search for new genetic determinants of male infertility due to congenital bilateral absence of the vas deferens |
2014 | Francis COUTURAUD | Brest | Fondation Maladies Rares | Idiopathic venous thromboembolism | identification of new inherited thrombophilia in selected families |
2014 | Christel DEPIENNE | Paris | Fondation Maladies Rares | autism-epilepsy | Identification of novel genes responsible for autism-epilepsy phenotypes |
2014 | Jamal GHOUMID | Lille | Fondation Maladies Rares | Blepharo-cheilo-dontic (BCD) syndrome | Molecular characterization of blepharocheilodontic (BCD) syndrome through exome sequencing in 5 families |
2014 | Gaëlle HARDY | Grenoble | Fondation Maladies Rares | Hereditary bradykinin-mediated angioedema | News genes involved in bradykinin-mediated angioedema with reduced C1-inhibitor function and no mutation in SERPING1 or F12 genes |
2014 | Carine LE GOFF | Paris | Fondation Maladies Rares | Floating Harbor syndrome | Identification of a new gene involved in Floating Harbor syndrome |
2014 | Aude MAGERUS-CHATINET | Paris | Fondation Maladies Rares | Autoimmune lymphoproliferative syndrome (ALPS) | Search for modifier genes in ALPS-Fas |
2014 | Gaël MANES | Montpellier | Fondation Maladies Rares | Autosomal dominant retinitis pigmentosa | Identification of novel genes in autosomal dominant Retinitis Pigmentosa in 21 fully screened families for known genes |
2014 | Rolando MELONI | Paris | Fondation Maladies Rares | familial form of bipolar disorder | Research of a major gene for familial form of bipolar disorder in an extended pedigree with an ascertained founder effect. |
2014 | Sebastien MOUTTON | Bordeaux | Fondation Maladies Rares | OEIS (omphalocele – exstrophy of bladder – imerforate anus – spinal defects) complex | Identification of the molecular bases of OEIS complex in a multiplex family |
2014 | Irene NETCHINE | Paris | Fondation Maladies Rares | Russell-Silver Syndrome | Identifying new genes responsible for autosomal inheritance of Russell-Silver syndrome |
2014 | Michel POLAK | Paris | Fondation Maladies Rares | Congenital hypothyroidism | Identification of new genes involved in brain-lung-thyroid syndrome |
2014 | Reiner VEITIA | Paris | Fondation Maladies Rares | Primary Ovarian Insufficiency | Genetics and Genomics of primary ovarian insufficiency: an entry point to understand ovarian function |
2014 | Vincent BERINGUE | Jouy-en-Josas | Fondation Maladies Rares | Prion diseases | Zebrafish model of prion disease |
2014 | Nicolas CHARLET-BERGUERAND | Illkirch | Fondation Maladies Rares | Amyotrophic lateral sclerosis & frontotemporal dementia | A rat model of amyotrophic lateral sclerosis & frontotemporal dementia |
2014 | Kathrin GIESELER | Villeurbanne | Fondation Maladies Rares | Muscular dystrophies | Development of C. elegans models for human muscular dystrophies |
2014 | Jamile HAZAN | Paris | Fondation Maladies Rares | Hereditary Spastic Paraplegia (HSP) | Dangerous liaisons: the link between spastin, atlastin and BMP signaling in the pathogenesis of hereditary spastic paraplegia |
2014 | Yann HERAULT | Illkirch | Fondation Maladies Rares | 16p11.2 microdeletion syndrome | A rat model for the 16p11.2 microdeletion syndrome to better understand and treat the cognitive and metabolic disorders induced in human |
2014 | Jocelyn LAPORTE | Illkirch | Fondation Maladies Rares | Congenital myopathies and dystrophies, limb girdle muscular dystrophies | Validation and pathophysiological characterization of novel genes for myopathies (MYO-fish) |
2014 | Olivier LOREAL | Rennes | Fondation Maladies Rares | Hereditary aceruloplasminemia | Hereditary aceruloplasminemia : mechanisms involved in the expression of the disease and development of new therapeutic approaches. |
2014 | Gregoire MICHAUX | Rennes | Fondation Maladies Rares | Microvillus inclusion disease | Towards a model for rare intestinal absorption diseases in c. elegans |
2014 | Arnaud MONTEIL | Montpellier | Fondation Maladies Rares | Infantile neuroaxonal dystrophy (INAD) | Modeling infantile neuroaxonal dystrophy, a nalcn channel-related disorder, in zebrafish |
2014 | Veronique MOREL | Lyon | Fondation Maladies Rares | Emery Dreifuss Muscular Dystrophy Autosomal recessive Cerebellar ataxia Beauce type (ARCA1) | Direct access to Nesprin1 variants contribution to Emery Dreifuss Muscular Dystrophy and Autosomal Recessive Cerebellar Ataxia ARCA1 |
2014 | Sophie NICOLE | Paris | Fondation Maladies Rares | Muscle channelopathies, congenital myasthenic syndroms | Neuromuscular excitability disorders in zebrafish : progressive muscle weakness in periodic paralysis and congenital myasthenia. |
2014 | Frederic PERROS | Le Plessis Robinson | Fondation Maladies Rares | Pulmonary arterial hypertension | Role of KCNK3 in the pathogenesis of pulmonary arterial hypertension |
2014 | Thomas PIETRI | Paris | Fondation Maladies Rares | Rett syndrom | Characterization of a zebrafish model of Rett syndrome |
2014 | Isabelle RICHARD | Evry | Fondation Maladies Rares | Limb-girdle muscular dystrophy type 2A | Rat model for calpainopathies |
2014 | Dimitrios SKOUFIAS | Grenoble | Fondation Maladies Rares | Microcephaly-Lymphedema-Chorioretinal Dysplasia human rare syndrome | Generation of a zebrafish model to study KIF11 motor protein mutations associated with the human MLDRC rare syndrome |
2014 | Herve TRICOIRE | Paris | Fondation Maladies Rares | Friedreich ataxia | Generation of new endogenous drosophila models of trinucleotide repeat expansion diseases |
2014 | Yvon TROTTIER | Illkirch | Fondation Maladies Rares | SpinoCerebellar Ataxia 7 (SCA7) | A zebrafish model of SCA7 for physiopathological analyses and drug evaluation |
2014 | Marie-Anne COLLE | Nantes | Fondation Maladies Rares | Pompe Disease (glycogenosis of type II) | Gene therapy for pediatric forms of Pompe disease using AAV gene transfer to the CNS: preclinical feasibility in nonhuman primate |
2014 | Philippe MOULLIER | Nantes | Fondation Maladies Rares | Duchenne muscular dystrophy | Systemic injection in the GRMD dog of a recombinant AAV vector encoding for the µdystrophin: efficiency and global safety |
2014 | Sibylle OPSAHL-VITAL | Montrouge | Fondation Maladies Rares | X-linked hypophosophatemic rickets | Development of a bioengineering treatment for the necrotic pulp of patients with familial rickets: preclinical approach in the mini-pig |
2014 | Pierre-Louis THARAUX | Paris | Fondation Maladies Rares | Rapidly progressive glomerulonephritis (RPGN) | Treatment of rapidly progressive glomerulonephritis by powerful inhibitors of HB-EGF and miRNA92a pathway in pig |
2015 | Johann BOHM | Illkirch | Fondation Maladies Rares | Tubular aggregate myopathy and Stormorken syndrome | First mammalian model for tubular aggregate myopathy and Stormorken syndrome |
2015 | Pascale BOMONT | Montpellier | Fondation Maladies Rares | Giant axonal neuropathy | Development of an In vivo model for Giant Axonal Neuropathy |
2015 | Jamel CHELLY | Illkirch | Fondation Maladies Rares | Malformations of Cortical Development - Periventricular Nodular Heterotopia (PVNH) | Understanding NEDD4L-related MCD (Malformations of Cortical Development) through investigations of a Knock-In mouse model |
2015 | Helene DOLLFUS | Strasbourg | Fondation Maladies Rares | Ciliopathy-like phenotype associating kidney alteration and retinal degeneration | Mouse modeling of a missense mutation in the essentiel gene PIK3R4 (VPS15) responsible for a ciliopathy-like disease |
2015 | Julie DUMONCEAUX | Paris | Fondation Maladies Rares | FacioScapuloHumeral Dystrophy (FSHD) | FacioScapuloHumeral Dystrophy (FSHD): targeting two alternative Fat1 exons with one mouse |
2015 | Christian HAMEL | Montpellier | Fondation Maladies Rares | Vitelliform macular dystrophies (VMD) | Impg1 gene Knock-Out, a mouse model for human vitelliform macular dystrophy and retinitis pigmentosa |
2015 | Alain HOVNANIAN | Paris | Fondation Maladies Rares | Recessive Dystrophic Epidermolysis Bullosa | Generation of a humanized mouse model for Recessive Dystrophic Epidermolysis Bullosa harbouring a recurrent COL7A1 mutation |
2015 | Sebastien LACROIX-DESMAZES | Paris | Fondation Maladies Rares | Hemophilia A | Generation of a novel mouse model of hemophilia A constituted of mice transgenic for a human T cell receptor specific for therapeutic factor VIII |
2015 | Carine LE GOFF | Paris | Fondation Maladies Rares | Myhre syndrome (MS) | SMAD4 and Myhre syndrome |
2015 | Delphine MEYNARD | Toulouse | Fondation Maladies Rares | Iron Refractory Iron Deficiency Anemia (IRIDA) | Is matriptase-2 involved in iron homeostasis regulation and anemia exclusively through the hepatocytes? |
2015 | Veronique PAQUIS-FLUCKINGER | Nice | Fondation Maladies Rares | Motor neuron disease and ataxia | CHCHD10S59L mouse model: how mitochondrial dysfunction promotes motor neuron disease? |
2015 | Frederique RENE | Strasbourg | Fondation Maladies Rares | Amyotrophic Lateral Sclerosis (ALS) | Generation of an ALS-FTD mouse model based on a conditional CHMP2B intron 5 mutant Knock-In |
2015 | Frederic RIEUX-LAUCAT | Paris | Fondation Maladies Rares | Primary immunodeficiency with autoimmunity | Role of LRBA in the control of the immune response: implication in primary immunodeficiencies |
2015 | Pascale BOMONT | Montpellier | Fondation Maladies Rares | Giant Axonal Neuropathy (GAN) | Reversing motor deficits in GIant Axonal Neuropathy |
2015 | Vincent GACHE | Lyon | Fondation Maladies Rares | Centronuclear Myopathies (CNM) | Rescue myonuclear domains establishment in centronuclear myopathies with chemical compounds |
2015 | Yvon TROTTIER | Strasbourg | Fondation Maladies Rares | Huntington’s disease | High Throughput screening for the identification of amyloid aggregation modulators in Huntington’s disease |
2015 | Sophie ARBORIO | Villers les Nancy | Fondation Maladies Rares | West syndrome, severe epilepsies | West Syndrom: construction of knowledge and experiences of singularity families |
2015 | Michel CASTRA | Lille | Fondation Maladies Rares | Cystic Fibrosis and Idiopathic Pulmonary Fibrosis (I.P.F.) | Disability and discrimination in the working place and in daily life in the pre-transplant period. A comparative study between two rare pulmonary diseases: cystic fibrosis and Idiopathic Pulmonary Fibrosis (I.P.F.). |
2015 | Dominique FARGE | Paris | Fondation Maladies Rares | Systemic sclerosis, Lupus | Establishment of a collaborative e-platform to identify and characterize the handicaps of patients with rare autoimmune diseases within the cell therapy or biotherapy |
2015 | Anne MARCELLINI | Montpellier | Fondation Maladies Rares | Down syndrome, 22q11 deletion, Williams-Beuren syndrome | Becoming an adult with development anomalies : obstacles and facilitators |
2015 | Gregoire MERCIER | Montpellier | Fondation Maladies Rares | Lymphedema | The LYMPHO-RAC study: analyzing out-of-pocket payments of primary lymphedema patients in France |
2015 | Remy POTIER | Paris | Fondation Maladies Rares | Usher, Wolfram and Stickler syndromes | Psychosocial determinants of deafblindness handicap on autonomy within the life path of people affected with Usher, Wolfram and Stickler syndromes |
2015 | Sophie QUINTON | Lille | Fondation Maladies Rares | Systemic sclerosis | Scleroderma and occupational difficulties: identify to better help |
2015 | Pauline ARNAUD | Paris | Fondation Maladies Rares | Marfan Syndrome and related disorders, Familial Thoracic Aortic Aneurysm and Dissection (FTAAD) | Identification of new genes involved in Marfan Syndrome and Familial Thoracic Aortic Aneurysm and Dissection (FTAAD) |
2015 | Isabelle AUDO | Paris | Fondation Maladies Rares | Retinitis pigmentosa (RP) | Gene defect identification in X-linked retinitis pigmentosa cases excluded for currently known gene defects |
2015 | Nadia BAHI-BUISSON | Paris | Fondation Maladies Rares | Periventricular Nodular Heterotopia | Investigating novel modular basis for Periventricular Nodular Heterotopia |
2015 | Stephanie BAULAC | Paris | Fondation Maladies Rares | Epilepsies | Identification of new genes for autosomal dominant focal epilepsies |
2015 | Patrick CALLIER | Dijon | Fondation Maladies Rares | Pai syndrome | Identification of the gene for Pai syndrome through Whole Genome Sequencing |
2015 | Vincent CANTAGREL | Paris | Fondation Maladies Rares | Cerebellar atrophy associated with intellectual disability | Genetic basis of childhood-onset cerebellar atrophy associated with intellectual disability |
2015 | Nadia CERF-BENSUSSAN | Paris | Fondation Maladies Rares | Early onset inflammatory intestinal diseases | Determination of mendelian causes of intestinal inflammation |
2015 | Nicolas CHASSAING | Toulouse | Fondation Maladies Rares | Anophthalmia - microphthalmia | Analysis of regulatory elements sequences in microphthalmia/anophthalmia |
2015 | Jamel CHELLY | Strasbourg | Fondation Maladies Rares | Focal cortical dysplasia - Epilepsy | Genetics of Focal Cortical Dysplasias |
2015 | Alexandre FABRE | Marseille | Fondation Maladies Rares | Syndromic diarrhea/tricho-hepato-enteric syndrom | Identification of new genes associated with syndromic diarrhea/ tricho-hepato-enteric syndrom |
2015 | Sylvain LATOUR | Paris | Fondation Maladies Rares | Rare primary immunodeficiencies | Molecular identification of novels forms of inherited lymphoproliferation syndromes associated with a susceptibility to EBV infection |
2015 | Valerie MALAN | Paris | Fondation Maladies Rares | Intellectual disability and congenital malformations | Unmasking of a recessive mutation: what role in the incomplete penetrance of CNVs |
2015 | Sandrine MARLIN | Paris | Fondation Maladies Rares | Cochlear nerve Aplasia | Identification of the molecular basis of cochlear nerve aplasia |
2015 | Sophie NAUDION | Bordeaux | Fondation Maladies Rares | A new entity (glomerular disease-lymphoedema-hypotrophy-developmental delay-immune deficieny) | Identification of the molecular bases of a new phenotype of multiple malformations in a multiplex family |
2015 | Veronique PAQUIS-FLUCKINGER | Nice | Fondation Maladies Rares | Mitochondrial diseases | Identification of new genes responsible for mitochondrial disorders by exome sequencing |
2015 | Nathalie ROUX-BUISSON | Grenoble | Fondation Maladies Rares | Exertional Heat Stroke syndrome (EHS) | Identification of new genes in Exertional Heat Stroke syndrome (EHS) with positive in vitro contracture test and no mutation in RYR1 gene |
2015 | Stephane VIVILLE | Strasbourg | Fondation Maladies Rares | Infertility | Genetics of male infertility: genes implicated in non-obstructive azoospermia |
2015 | Christina ZEITZ | Paris | Fondation Maladies Rares | Retinitis pigmentosa (RP) | Identification of novel gene defects underlying retinitis pigmentosa in France by whole exome sequencing |
2015 | Marie-Christine ALESSI | Marseille | Fondation Maladies Rares | Platelet dysfunction | Identification of new genes involved in platelet dysfunction |
2015 | Christine BELLANNÉ-CHANTELOT | Paris | Fondation Maladies Rares | Congenital neutropenia | Identification of new genes in congenital neutropenia |
2015 | Alain CALENDER | Lyon | Fondation Maladies Rares | Sarcoidosis (Besnier-Boeck-Schaumann disease) | Identification of genes involved in familial forms of sarcoidosis |
2015 | Pascale de LONLAY | Paris | Fondation Maladies Rares | Rhabdomyolysis and Reye syndrome | Identification of the gene(s) responsible for recessive rhabdomyolysis and Reye syndrome in 3 patients from 2 families presenting the same phenotype |
2015 | Muriel GIRARD | Paris | Fondation Maladies Rares | Biliary atresia | Identification of a common signaling pathway involved in biliary atresia |
2015 | Celine HUBER | Paris | Fondation Maladies Rares | Asphyxiating Thoracic Dysplasia or Jeune syndrome | Identification of the molecular basis of the Asphyxiating Thoracic Dysplasia |
2015 | Vincent LAUGEL | Strasbourg | Fondation Maladies Rares | Cockayne syndrome | Investigating novel molecular basis for Cockayne syndrome |
2015 | Caroline MICHOT | Paris | Fondation Maladies Rares | Microcephalic osteodysplastic primordial dwarfisms | Dissection of molecular bases of microcephalic osteodysplastic primordial dwarfisms: identification of new genes in pre-screened patients |
2015 | Veronique PAQUIS-FLUCKLINGER | Nice | Fondation Maladies Rares | Mitochondrial diseases | Progressive external ophtalmoplegia with multiple mitochondrial DNA deletions: identification of new genes |
2015 | Laurent PASQUIER | Rennes | Fondation Maladies Rares | Rhombencephalosynapsis | Identification of a gene involved in rhombencephalosynapsis |
2015 | Megana PRASAD | Strasbourg | Fondation Maladies Rares | Bardet-Biedl and Bardet-Biedl-like syndromes | Identification of novel genes underlying Bardet-Biedl and Bardet-Biedl-like syndromes |
2015 | Pierre RAY | Grenoble | Fondation Maladies Rares | Non-obstructive azoospermia | Identification of genetic causes of human non-obstructive azoospermia |
2015 | Caroline ROORYCK-THAMBO | Bordeaux | Fondation Maladies Rares | Right ventricular hypoplasia | Identification of a gene involved in familial right ventricular hypoplasia |
2015 | Agnes RÖTIG | Paris | Fondation Maladies Rares | Mitochondrial disease with neurological involvement | Identification of nuclear genes responsible of abnormal respiratory chain assembly |
2016 | Helene AMIEVA | Bordeaux | Fondation Maladies Rares | Fronto-Temporal Lobar Degenerations | Personalized and multidisciplinary care on behavioral disorders of Fronto-Temporal Lobar Degenerations |
2016 | Delphine DELLACHERIE | Lille | Fondation Maladies Rares | Developmental anomalies and malformation syndromes | Dance as a new tool for remediation in rare cerebellar developmental pathologies |
2016 | Caroline DESOMBRE | Lille | Fondation Maladies Rares | Rare non-malignant hematological diseases | How to restore equality of opportunity for students with hemophilia? |
2016 | Genevieve BAUJAT | Paris | Fondation Maladies Rares | Klippel Feil syndrome | Molecular basis dissection of isolated Klippel Feil syndrome: identification of new genes |
2016 | Stephane BÉZIEAU | Nantes | Fondation Maladies Rares | Syndromic and non-syndromic severe intellectual disability (IQ<50) | Trio-based whole-genome sequencing of patients with syndromic and non-syndromic severe intellectual disability |
2016 | Celia CRÉTOLLE | Paris | Fondation Maladies Rares | Currarino Syndrome (non mutated for MNX1 gene) Syndromic caudal dysgenesis: Ano-rectal malformation associated with partial sacral agenesis and occult dysraphism and pre sacral tumor | Genotype-endophenotype correlation study in patients with a MNX1 gene non mutated Currarino syndrome |
2016 | Yanick CROW | Paris | Fondation Maladies Rares | Aicardi-Goutieres syndrome Type I interferonopathies Familial chilblain lupus | Whole genome sequencing in Aicardi-Goutieres syndrome and related type I interferonopathies |
2016 | Albertina DE SARIO | Montpellier | Fondation Maladies Rares | Cystic Fibrosis | DNA methylation and pulmonary disease in cystic fibrosis patients |
2016 | Christel DEPIENNE | Strasbourg | Fondation Maladies Rares | Familial cortical myoclonic tremor and epilepsy (FCMTE) | Identification of the unconventional genetic basis for familial cortical myoclonic tremor and epilepsy |
2016 | Pascale GUICHENEY | Paris | Fondation Maladies Rares | Long QT syndrome (LQTS) Catecholergic polymorphic ventricular tachycardia (CPVT) | Elucidation of the molecular variants responsible for sudden cardiac death in two large families |
2016 | Alice HADCHOUEL | Paris | Fondation Maladies Rares | Pulmonary alveolar proteinosis | Identification of a new gene in a familial form of pulmonary alveolar proteinosis |
2016 | Eric LE GUERN | Paris | Fondation Maladies Rares | Genetic generalized epilepsy | IDENTIFICATION OF NEW GENES FOR FAMILIAL FORMS OF GENERALIZED EPILEPSIES |
2016 | Guy LENAERS | Angers | Fondation Maladies Rares | Mitochondrial Inherited Optic Neuropathies Dominant Optic Atrophy Kjer disease | Genetic analysis of dominant optic atrophy |
2016 | Caroline MICHOT | Paris | Fondation Maladies Rares | Cornelia de Lange syndrome | Dissection of molecular bases of Cornelia de Lange syndrome: identification of new genes in pre-screened patients |
2016 | Jean MULLER | Strasbourg | Fondation Maladies Rares | Bardet-Biedl Syndrome | Identification of novel genes underlying Bardet-Biedl Syndrome using Next Generation Sequencing |
2016 | Christian PINSET | Paris | Fondation Maladies Rares | Duchenne muscular dystrophy (DMD) | Studying myogenesis and the onset of Duchenne muscular dystrophy (DMD) in human pluripotent stem cells to identify early disease markers and potential therapeutic targets |
2016 | Amelie PITON | Strasbourg | Fondation Maladies Rares | intellectual disability autism | Evaluation of RNA-sequencing strategies to better diagnose intellectual disability |
2016 | Angela TINGAUD-SEQUEIRA | Bordeaux | Fondation Maladies Rares | Goldenhar syndrome Oculo-auriculo-vertebral spectrum | Exome sequencing to find new candidate genes involved in Goldenhar Syndrome and Oculo-Auriculo-Vertebral Spectrum |
2016 | Sandrine VUILLAUMIER-BARROT | Paris | Fondation Maladies Rares | CDG syndrome, glycosylation defect, coagulation defect | Identification of a gene underlying same coagulation factors abnormalities and CDG II profile in two unrelated family with anticipated dominant transmission. |
2016 | Valerie DESQUIRET-DUMAS | Angers | Fondation Maladies Rares | Mitochondrial complex I deficiency | Screening of pharmacological molecules to restore oxidative metabolism in rare diseases associated to mitochondrial complex I mutations. |
2016 | Michel FONTES | Marseille | Fondation Maladies Rares | X-linked Charcot-Marie-Tooth disorder (CMTX) | HTS screening to identify molecules correcting connexon activity in CMTX disorder. |
2016 | Sylvie FOURNEL-GIGLEUX | Nancy | Fondation Maladies Rares | Mucopolysaccharidoses | Search for inhibitors of the galactosyltransferase β4GalT7 by High Throughput Screening : towards a specific substrate reduction therapy in mucopolysaccharidoses |
2016 | Mathieu RODERO | Paris | Fondation Maladies Rares | STING-associated vasculopathy with onset in infancy (SAVI) | Identification of molecules able to control interferon beta transcription in patients with gain-of-function mutations in TMEM173. |
2016 | Yann AUDIC | Rennes | Fondation Maladies Rares | Epidermolysis bullosa | XENOPUS EPIDERMIS DEVELOPMENT IN THE SEARCH FOR MODIFIER GENES OF EPIDERMOLYSIS BULLOSA |
2016 | Charles-Henry COTTART | Paris | Fondation Maladies Rares | Cystic fibrosis | A NEW RAT MODEL FOR CYSTIC FIBROSIS CARRYING THE F508DEL MUTATION IN THE CFTR GENE |
2016 | Benjamin DEHAY | Bordeaux | Fondation Maladies Rares | Kufor-Rakeb Syndrome Neuronal Ceroid Lipofuscinosis | PHYSIOPATHOLOGICAL CHARACTERIZATION OF A RAT MODEL OF KUFOR-RAKEB SYNDROME |
2016 | Bruno DELLA GASPERA | Paris | Fondation Maladies Rares | Spinal muscular atrophy with respiratory distress (SMARD1) also called autosomal recessive distal spinal muscular atrophy-1 (DSMA1) | XENOPUS TROPICALIS MODEL OF SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS (SMARD1) |
2016 | Laurence LEGEAI-MALLET | Paris | Fondation Maladies Rares | FGFR3-related osteochondrodysplasias (chondrodysplasias and craniosynostoses) | ZEBRAFISH MODEL OF FGFR3-RELATED SKELETAL DISORDERS |
2016 | Brigitte LELONGT | Paris | Fondation Maladies Rares | Nephronophtisis | IMPACT OF ANKS3 HUMAN MUTATION IN RAT MODEL |
2016 | Sylvie MAZOYER | Lyon | Fondation Maladies Rares | MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I; MOPD1 ROIFMAN SYNDROME; RFMN | STUDY OF THE PHYSIOPATHOLOGY OF RNU4ATAC-ASSOCIATED DISEASES |
2016 | Gilles MILLAT | Lyon | Fondation Maladies Rares | Endocardial Fibroelastosis Dilated Cardiomyopathy | PRKAG2 MUTATIONS AS A MOLECULAR EXPLANATION ON PATIENTS WITH DILATED CARDIOMYOPATHY AND ENDOCARDIAL FIBROELASTOSIS ? |
2016 | Christophe SIRAC | Limoges | Fondation Maladies Rares | AL amyloidosis | EESTABLISHMENT OF A RAT MODEL FOR AL AMYLOIDOSIS |
2016 | Marie-Christine ALESSI | Marseille | Fondation Maladies Rares | ETV6-related thrombocytopenia | UNRAVELING MOLECULAR MECHANISMS OF ETV6-RELATED THROMBOCYTOPENIA |
2016 | Mathieu BARBIER | Paris | Fondation Maladies Rares | Frontotemporal-Lobar Dementia (FTLD) | IN SEARCH OF GENETIC MODIFIERS TO PREDICT THE AGE AT ONSET IN FRONTOTEMPORAL-LOBAR DEMENTIA |
2016 | Louise BENARROCH | Paris | Fondation Maladies Rares | Marfan syndrome Familial Thoracic Aortic Aneurysm and Dissection | IDENTIFICATION OF NEW GENES INVOLVED IN MARFAN SYNDROME AND FAMILIAL THORACIC AORTIC ANEURYSM AND DISSECTION |
2016 | Ange-Line BRUEL | Dijon | Fondation Maladies Rares | Oral-facial-digital syndromes | IDENTIFICATION OF NEW GENES IMPLICATED IN ORAL-FACIAL-DIGITAL SYNDROMES, IN EXOME-NEGATIVE PATIENTS |
2016 | Valerie CORMIER-DAIRE | Paris | Fondation Maladies Rares | Genochondromatosis | IDENTIFICATION OF THE MOLECULAR BASIS OF GENOCHONDROMATOSIS |
2016 | Alexandre FABRE | Marseille | Fondation Maladies Rares | Waldmann's disease or Primary intestinal lymphangiectasia | GENETIC BASES OF PRIMARY INTESTINAL LYMPHANGIECTASIA |
2016 | Delphine HERON | Paris | Fondation Maladies Rares | Agenesis of the corpus callosum | IDENTIFICATION OF GENES FOR ISOLATED AGENESIS OF THE CORPUS CALLOSUM WITHOUT INTELLECTUAL DEFICIENCY |
2016 | Anne JOUTEL | Paris | Fondation Maladies Rares | Hereditary cerebral small vessel disease | DISSECTING MOLECULAR PATHWAYS INVOLVED IN COL4A1-RELATED INTRACEREBRAL HEMORRHAGE |
2016 | Jocelyn LAPORTE | Strasbourg | Fondation Maladies Rares | Muscular dystrophy Congenital myopathy | COMBINING HIGH THROUGHPUT SEQUENCING APPROACHES TO DEFINE THE GENETIC BASES OF MYOPATHIES |
2016 | Roland LIBLAU | Toulouse | Fondation Maladies Rares | Narcolepsy with cataplexy | HUMAN IMMUNE SIGNATURES OF NARCOLEPSY WITH CATAPLEXY |
2016 | Herve MOINE | Strasbourg | Fondation Maladies Rares | Fragile X syndrome | IDENTIFICATION OF THE FMRP BINDING SITE ON ITS NEURONAL MRNA TARGETS BY CLIP-SEQ IN THE FMR1-KO MOUSE MODEL OF THE FRAGILE X SYNDROME |
2016 | AGNES ROTIG | Paris | Fondation Maladies Rares | Mitochondrial diseases | IDENTIFICATION OF NUCLEAR GENES OF MITOCHONDRIAL DISEASES WITH NEUROLOGICAL INVOLVEMENT |
2016 | Christel THAUVIN | Dijon | Fondation Maladies Rares | Developmental anomalies | IDENTIFICATION OF NEW GENES IMPLICATED IN UNDIAGNOSED DEVELOPMENTAL ANOMALIES FOLLOWING A GENOTYPE-FIRST APPROACH USING GENOME SEQUENCING, IN TRIO-EXOME-NEGATIVE PATIENTS |
2016 | Christel THAUVIN | Dijon | Fondation Maladies Rares | Developmental anomalies | IDENTIFICATION OF NEW GENES IMPLICATED IN UNDIAGNOSED DEVELOPMENTAL ANOMALIES FOLLOWING A GENOTYPE-FIRST APPROACH USING GENOME SEQUENCING, IN TRIO-EXOME-NEGATIVE PATIENTS |
2017 | Brahim BELBELLAA | Illkirch | Fondation Maladies Rares | Freidreich Ataxia associated cardiomyopathy | Multisystem approach analysis of friedreich ataxia cardiomyopathy in frataxin deficient mice models and hIPS-derived cardiomyocytes for the elucidation of pathophysiological mechanisms and identification biomarkers. |
2017 | Virginie CARMIGNAC | Dijon | Fondation Maladies Rares | CLOVES: Congenital Lipomatous Overgrowth, Vascular Malformations and Epidermal Nevi syndrome MCAP: Megalencephaly-Capillary Malformation-Polymicrogyria syndrome KTS: Klippel Trenaunay Syndrome | Unraveling the genetic basis of mutation-negative mosaic overgrowth syndromes through deep whole exome sequencing |
2017 | Martine COHEN-SALMON | Paris | Fondation Maladies Rares | Megalencephalic leukoencephalopathy with subcortical cysts | Deciphering the gliovascular functions of MLC1 underlying megalencephalic leukoencephalopathy |
2017 | FRANCIS COUTURAUD | Brest | Fondation Maladies Rares | Idiopathic venous thromboembolism | EXTENDING IDENTIFICATION OF NEW INHERITED THROMBOPHILIA IN SELECTED FAMILIES |
2017 | Genevieve de SAINT BASILE | Paris | Fondation Maladies Rares | X-Linked thrombocytopenia, Woodhouse Sakatti, IgA nephropathy, Severe Immune disorder, Vasculopathy | Genetic basis of various phenotypes segregating in a large inbred family |
2017 | Claire FRANCASTEL | Paris | Fondation Maladies Rares | ICF syndrome: Immunodeficiency Centromeric instability Facial anomalies | GenOmics of the ICF syndrome: when studying a rare disease also sheds new light on the “old” field of DNA methylation |
2017 | Cecile JEANPIERRE | Paris | Fondation Maladies Rares | Congenital anomalies of the kidney and urinary tract (CAKUT) Renal hypodysplasia (RHD) | Identification of novel genes and mutational mechanisms for renal hypodysplasia |
2017 | Sandrine MARLIN | Paris | Fondation Maladies Rares | Non syndromic hearing impairment with enlarged vestibular aqueducts | Identification of the second gene responsible for isolated hearing impairment with enlarged vestibular aqueducts |
2017 | Caroline NAVA | Paris | Fondation Maladies Rares | Epilepsy Dravet syndrome | Identification of novel genes responsible for Dravet syndrome |
2017 | Veronique PAQUIS-FLUCKLINGER | Nice | Fondation Maladies Rares | Mitochondrial disorders | Identification of new genes and possible de novo mutations in early-onset mitochondrial disorders |
2017 | Veronique PINGAULT | Paris | Fondation Maladies Rares | Waardenburg syndrome type 2 | Molecular bases of Waardenburg syndrome type 2 |
2017 | Stephane Savary | Dijon | Fondation Maladies Rares | X-linked adrenoleukodystrophy and Acyl-CoA Oxidase deficiency (peroxisomal leukodystrophies) | Novel CRISPR-mediated mutant microglial cell models to better understand the physiopathogenesis of peroxisomal leukodystrophies and identify novel therapeutic targets by NGS RNAseq |
2017 | Capucine TROLLET | Paris | Fondation Maladies Rares | Oculopharyngeal muscular dystrophy | Long and small non coding RNA in oculopharyngeal muscular dystrophy |
2017 | François VIALARD | Paris | Fondation Maladies Rares | Azoospermia | Identification and characterization of gene alterations in patients with a spermatogenesis maturation arrest |
2017 | Stephane VIVILLE | Strasbourg | Fondation Maladies Rares | Spontaneous ovarian hyperstimulation syndrome (sOHSS) | Exome sequencing in a consanguineous family with spontaneous ovarian hyperstimulation cases with unknown triggers |
2017 | Jean-Vianney BARNIER | Paris | Fondation Maladies Rares | Intellectual disability | First mutation in the auto-inhibitory domain of the PAK3 gene associated to ID. |
2017 | Jean-Jacques BOFFA | Paris | Fondation Maladies Rares | Idiopathic nephrotic syndrome | Pathophysiological role of Isthmin-1 in idiopathic nephrotic syndrome |
2017 | Anne DEBANT | Montpellier | Fondation Maladies Rares | neurodevelopmental disorders Intellectual disability (ID) | Contribution of de novo mutations in the trio gene in intellectual disability: development of a trio knock-in mouse model mimicking the human disease |
2017 | Juliette GODIN | Illkirch | Fondation Maladies Rares | Malformation of cortical development - microcephaly - intellectual disabilities | Understanding the roles of tRNAs modifications in cerebral corticogenesis through the investigation of an ADAT3 knock-in model |
2017 | Denis HERVE | Paris | Fondation Maladies Rares | ADCY5-related dyskinesia | A mouse model for studying pathophysiological mechanisms of ADCY5-related dyskinesia |
2017 | Pascal HOUILLIER | Paris | Fondation Maladies Rares | Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis (FHHNC) | A Claudin 16-knock-in mouse as a model of Familial hypomagnesemia with hypercalciuria and nephrocalcinosis |
2017 | Metodi METODIEV | Paris | Fondation Maladies Rares | mitochondrial diseases; Leigh syndrome including French-Canadian Variant (LSFC). | A mouse model to understand the pathophysiology and tissue-specificity of mitochondrial disease caused by mutations in the RNA stability factor LRPPRC. |
2017 | Benoit MIOTTO | Paris | Fondation Maladies Rares | Meier-Gorlin Syndrome | Study of a mouse model of Meier-Gorlin Syndrome based on a mutation in the conserved BAH domain of ORC1 |
2017 | Stephane NEDELEC | Paris | Fondation Maladies Rares | Spinal muscular atrophy, lower extremity-predominant, 2, AD SMALED2 | Development and characterization of preclinical Human and Mouse models of Spinal Muscular Atrophy to determine the mechanisms of selective motor neuron impairments |
2017 | Miria RICCHETTI | Paris | Fondation Maladies Rares | Cockayne syndrome | A mouse model for Cockayne syndrome |
2017 | Laurent SCHAEFFER | Lyon | Fondation Maladies Rares | Neuromuscular disorders affecting the neuromuscular junction | Light up the neuromuscular junction to monitor muscle innervation |
2017 | Jacques YOUNG | Paris | Fondation Maladies Rares | Severe hyperandrogenism and oligomenorrhea | KI mouse model as a proof of concept for human hyperandrogenism, anovulation associated with activating LHCGR mutation |
2017 | Pierre ANCET | Dijon | Fondation Maladies Rares | Congenital Giant Naevus | Study Congenital Giant Naevus: Psychology, Info-Com, Health, Transdisciplinary, Ethics |
2017 | Lionel DANY | Marseille | Fondation Maladies Rares | Systemic lupus erythematosus | Psychosocial consequences of systemic lupus erythematosus: a study of patients and their spouses |
2017 | Agnes DUMAS | Paris | Fondation Maladies Rares | Congenital adrenal hyperplasia, Isolated anorectal malformations or syndromic, Crohn's disease, Juvenile idiopathic arthritis, Mucoviscidosis | Transition Platforms: Understanding the Expectations of Parents of Young People with Rare Diseases |
2017 | Stephanie MAZZA | Lyon | Fondation Maladies Rares | Narcolepsy type 1 | Study of the academic and professional path of narcoleptic patients |
2017 | Maria POPA-ROCH | Strasbourg | Fondation Maladies Rares | Ehlers-Danlos syndrome, Ondine syndrome Juvenile arthritis | Rare Invisible Disease and Schooling of Children |
2017 | Virginie POSTAL | Bordeaux | Fondation Maladies Rares | Prader Willi syndrome | Communication in Prader-Willi syndrome: study of emotional control related to behavioural disorders, their daily repercussions and examination of innovative therapies |
2017 | Sebastien RUFFIE | Pointe-à-Pitre | Fondation Maladies Rares | Sickle cell disease | Sickle cell disease, neurocognitive disorders and social participation |
2017 | Arturo LONDONO-VALLEJO | Paris | Fondation Maladies Rares | Hoyeraal-Hreidarsson syndrome Primary pulmonary fibrosis Dyskeratosis congenita | RNA partitioning in RTEL1-associated Hoyeraal-Hreidarsson syndrome |
2017 | Pascale QUIGNON | Rennes | Fondation Maladies Rares | Epilespy | Whole genome sequencing of dogs affected by idiopathic epilepsy as genetic models for human epilepsies |
2017 | Nicolas CHASSAING | Toulouse | Fondation Maladies Rares | Microphthalmia/anophtalmia | ANALYSIS OF REGULATORY GENE SEQUENCES IN MICROPHTHALMIA/ANOPHTHALMIA |
2017 | SANDRINE PASSEMARD | Paris | Fondation Maladies Rares | Primary microcephalies: MicroCephaly Primary Hereditary, microcephalic dwarfism (Seckel syndrome / MOPD / Meyer Gorlin syndrome), microcephaly and chorioretinopathy | MICRO-WGS: Identifying genes responsible for primary microcephaly |
2017 | Arthur SORLIN | Dijon | Fondation Maladies Rares | Hypomelanosis of Ito, Linear Whorled Nevoid Hypermelanosis, and other mosaic development disorders with skin pigmentary anomalies | Deciphering the genetic basis of mosaic development disorders with skin pigmentary anomalies |
2017 | Gaetan LESCA | Lyon | Fondation Maladies Rares | Epilepsy West syndrome | Searching for the genetic basis of West syndrome with favorable outcome |
2017 | Pauline ARNAUD | Paris | Fondation Maladies Rares | Marfan syndrome Familial Thoracic Aortic Aneurysm and Dissection | Identification of new genes involved in Marfan syndrome and Familial Thoracic Aortic Aneurysm and Dissection by WES and WGS approaches |
2017 | Betty GARDIE | Nantes | Fondation Maladies Rares | Hereditary erythrocytoses (HE) | Whole genome sequencing of patients with hereditary erythrocytosis |
2017 | Nicolas RAMOZ | Paris | Fondation Maladies Rares | Anorexia nervosa dominant form, eating disorders, psychiatric disorders | COMBINING HIGH THROUGHPUT SEQUENCING APPROACHES TO DEFINE THE GENETIC BASES OF DOMINANT FAMILIAL FORMS OF ANOREXIA NERVOSA |
2017 | Alexandre BACQ | Paris | Fondation Maladies Rares | Epilepsy | Identification of novel pathogenic mechanisms involved in DEPDC5-related epilepsy and SUDEP. |
2017 | Jean MULLER | Strasbourg | Fondation Maladies Rares | Bardet-Biedl syndrome Ciliopathy | Identification of genes and pathways implicated in families affected with a ciliopathy. |
2017 | Veronique PAQUIS-FLUCKLINGER | Nice | Fondation Maladies Rares | Mitochondrial diseases | Identification of new genes responsible of mitochondrial disorders by RNA sequencing |
2017 | Nadine CERF-BENSUSSAN | Paris | Fondation Maladies Rares | Monogenic Intestinal disorders | HIGH-TROUGHPUT SCREENING FOR IDENTIFICATION OF MENDELIAN CAUSES OF INTESTINAL INFLAMMATION |
2017 | Jean-Jacques FEIGE | Grenoble | Fondation Maladies Rares | HHT: Hereditary Haemorrhagic Telangiectasia (Rendu-Osler-Weber disease) PAH: Pulmonary Arterial Hypertension | HHTreat: new drugs for the treatment of HHT patients |
2017 | Johann BOHM | Illkirch | Fondation Maladies Rares | Tubular aggregate myopathy (TAM) | A high-throughput screen to identify compounds antagonizing tubular aggregate myopathy |
2017 | Marie-Odile FAUVARQUE MARRAS | Grenoble | Fondation Maladies Rares | Cushing's disease | Targeting USP8 in Cushing's disease |
2017 | Dominique BONNEAU | Angers | Fondation Maladies Rares | Rare Intellectual disabilities | Omics for Improving the Diagnosis of Rare Intellectual Disabilities |
2017 | Jean-Baptiste GOURRAUD | Nantes | Fondation Maladies Rares | long QT syndrome, idiopathic ventricular fibrillation | CIQTP prolongation : role and mechanism in sudden cardiac death |
2017 | Laurent PLANTIER | Tours | Fondation Maladies Rares | Idiopathic Pulmonary Fibrosis | Acoustic Waves and Helium/oxygen for Aerosol Treatment of Idiopathic Pulmonary Fibrosis (IPF) |
2018 | Caroline LE GUINER | Nantes | Fondation Maladies Rares | Duchenne Muscular Dystrophy | Gene therapy for the cardiac disease in Duchenne Muscular Dystrophy: Definition of the optimal mode of delivery to transduce the heart of nonhuman primates using a rAAV9 vector |
2018 | Laurent STORME | Lille | Fondation Maladies Rares | Congenital diaphragmatic hernia | Optimization of intact cord resuscitation in newborn lambs with congenital diaphragmatic hernia |
2018 | Gabriel RAHMI | Paris | Fondation Maladies Rares | Esophageal atresia Anastomotic fistulas | Fistula therapy by extracellular vesicles into thermoreversible hydrogels: tackling a complication of oesophageal atresia reparative surgery |
2018 | Laurent TIRET | Paris | Fondation Maladies Rares | Centronuclear myopathies, Myotubular myopathies, Fiber-size disproportion myopathies, Mitochondrial myopathies | Establishment and characterization of a humanized canine DNM2 colony dedicated to validate efficient treatments in mice |
2018 | Stephane BEZIEAU | Nantes | Fondation Maladies Rares | Intellectual disability | Trio-based whole-genome sequencing of patients with syndromic and non-syndromic moderate or severe intellectual disability |
2018 | Clement CARRE | Paris | Fondation Maladies Rares | Intellectual Disability (ID) Non-syndromic X-linked Intellectual Disability (NSXLID) | tRNA Fragments & RNA methylation detection for functional diagnostic in Intellectual Disability |
2018 | Marie-Christine CHABOISSIER | Nice | Fondation Maladies Rares | Frasier syndrome | Identification of the Genetic Network Leading to Frasier Syndrome and other Disorders of Sexual Development |
2018 | Mireille COSSEE | Montpellier | Fondation Maladies Rares | Myopathies and Muscular dystrophies | Evaluation of a Whole Genome and RNA-sequencing strategy to identify the molecular bases of unsolved myopathies and muscular dystrophies |
2018 | Caroline KANNENGIESSER | Paris | Fondation Maladies Rares | Pleuroparenchymal fibroelastosis Pulmonary fibrosis | Identification of new genes implicated in Pleuroparenchymal fibroelastosis |
2018 | Stanislas LYONNET | Paris | Fondation Maladies Rares | Mayer-Rokitansky-Kuster-Hauser syndrome | Deciphering the molecular mechanisms leading to Mayer-Rokitansky-Kuster-Hauser syndrome |
2018 | Frederique MAGDINIER | Marseille | Fondation Maladies Rares | Facio Scapulo Humeral Dystrophy (FSHD) Bosma Arhinia and microphtalmie (BAMS) | Identification of genes and regions regulated by the SMCHD1 chromatin-associated factor in Facio-Scapulo-Humeral Dystrophy (FSHD) and Bosma Arhinia and Microphtalmia Syndrome (BAMS) |
2018 | Anne PHILIPPE | Paris | Fondation Maladies Rares | Non syndromic autism spectrum disorders | Whole exome sequencing in non syndromic autism spectrum disorders |
2018 | Helene PUCCIO | Illkirch | Fondation Maladies Rares | Friedreich Ataxia | Identification of pathological mechanisms underlying proprioceptive neurons dysfunction and cell death in Friedreich Ataxia |
2018 | Florent SOUBRIER | Paris | Fondation Maladies Rares | Precapillary Pulmonary arterial hypertension | Search for new genes in familial pulmonary hypertension by Whole Genome Sequencing |
2018 | Stephane VIVILLE | Strasbourg | Fondation Maladies Rares | Female infertility | Exome sequencing in consanguinous families in the quest of genes implicated in oocyte maturation arrest |
2018 | Carolina BAEZA-VELASCO | Paris | Fondation Maladies Rares | Syndrome d’Ehlers-Danlos hypermobile | Patterns d’activite des personnes atteintes du Syndrome d’Ehlers-Danlos hypermobile : facteurs associes et prise de decision ACTI-SEDh |
2018 | Delphine HERON | Paris | Fondation Maladies Rares | Agenesie du corps calleux isolee | Processus decisionnels des couples confrontes au diagnostic prenatal d’une agenesie du corps calleux isolee ACCED |
2018 | Charlotte JACQUEMOT | Paris | Fondation Maladies Rares | Hungtington | Utiliser le langage comme marqueur de la maladie de Huntington pour ameliorer sa prise en charge et son suivi LangageHungtington |
2018 | Celine LANCELOT | Angers | Fondation Maladies Rares | Syndrome de Turner | Retentissement des capacites de cognition sociale et de cognition affective sur les difficultes relationnelles et d'adaptation sociale des adolescentes atteintes du syndrome de Turner CAST |
2018 | Bruno QUINTARD | Bordeaux | Fondation Maladies Rares | Albinisme | Les determinants biopsychosociaux de l’ajustement dyadique à la maladie chez le sujet albinos et son proche entourage : une approche mixte qualiquantitative ALBIPSY |
2019 | Piotr TOPILKO | Paris | Fondation Maladies Rares | Neurofibromatosis type 1 (Recklinghausen disease) | Identification of markers of the cells at the origin of cutaneous Neurofibromatosis type 1 tumours and deciphering the molecular mechanisms responsible for malignant transformation of plexiform neurofibromas |
2019 | Sadia SAEED | Lille | Fondation Maladies Rares | Severe early onset obesity | Identification of new genes and rare variants implicated in monogenic severe obesity in children from a consanguineous population. |
2019 | Carole ESCARTIN | Fontenay aux Roses | Fondation Maladies Rares | Huntington's disease | Microglial cells: the third element for mutant Huntingtin clearance in Huntington's disease? |
2019 | Arnaud DUPUIS | Strasbourg | Fondation Maladies Rares | Platelet delta storage pool deficiency | Looking for gene(s) responsible for non syndromic platelet delta storage pool deficiency. |
2019 | Clémence VANLERBERGHE | Lille | Fondation Maladies Rares | Fibular hemimelia Fuhrmann syndrome Santos syndrome FATCO (Fibular Aplasia - Tibial Campomelia - Oligosyndactyly) FFU complex (Femur - Fibula - Ulna) | Deciphering the genetic basis of fibular hypoplasia/agenesis |
2019 | Céline GAUCHER | Paris | Fondation Maladies Rares | amelogenesis imperfecta dentinogenesis imperfecta dentin anomalies | WES for non syndromic dental hard tissues anomalies: ExoDent |
2019 | Anne LETESSIER | Paris | Fondation Maladies Rares | MEIER-GORLIN SYNDROME 1; MGORS1 (MGS; OMIM#224690; ORPHA:2554) | Molecular analysis of Meier-Gorlin Syndrome type 1: consequences of ORC1 mutation on chromatin organization and gene expression. |
2019 | Nadine CERF-BENSUSSAN | Paris | Fondation Maladies Rares | Very Early onset inflammatory bowel diseases and congenital diarrheas | Whole genome sequencing in Very Early Onset- IBD and related intestinal disorders |
2019 | Aurélien TRIMOUILLE | Bordeaux | Fondation Maladies Rares | Oculo-auriculo vertebral spectrum | Further delineation of molecular bases of Oculo-Auriculo-Vertebral Spectrum |
2019 | Isabelle PERRAULT | Paris | Fondation Maladies Rares | Leber congenital amaurosis (LCA, MIM204000) and other early-onset severe retinal dystrophies (EOSRD) are leading cause of incurable blindness in childhood. Sensorineural hearing loss (SHL) | GENETIC DECIPHERING OF NEW SYNDROME ASSOCIATING EARLY AND SEVERE RETINAL DYSTROPHY AND SENSORINEURAL HEARING LOSS |
2019 | Michèle STUDER | Nice | Fondation Maladies Rares | Hereditary congenital facial paresis (HCFP3) (OMIM #614744) | Unravelling the Genetic Pathways Leading to Hereditary Congenital Facial Palsy and Associated Hearing Loss |
2019 | Caroline MICHOT | Paris | Fondation Maladies Rares | Myhre syndrome | DISSECTION OF MOLECULAR BASES OF MYHRE SYNDROME : IDENTIFICATION OF NEW GENES IN PRE-SCREENED PATIENTS |
2019 | Sandrine BARBAUX | Paris | Fondation Maladies Rares | The Sertoli Cell Only Syndrome (SCOS). | GENETIC CAUSES OF A RARE FORM OF INFERTILITY, THE SERTOLI CELL ONLY SYNDROME |
2019 | Suzanne LESAGE | Paris | Fondation Maladies Rares | Early-onset Parkinson's disease (Orphanet ORPHA:2828) | Whole genome sequencing in a North African consanguineous family with an early-onset Parkinson’s disease |
2019 | Grégoire MICHAUX | Rennes | Fondation Maladies Rares | Microvillus Inclusion Disease Familial hemophagocytic lymphohistiocytosis type 5 | Role of V0-ATPase in intestinal absorption and Microvillus Inclusion Disease |
2019 | Thierry BIENVENU | Paris | Fondation Maladies Rares | Anorexia nervosa | Development of a new mouse model of anorexia nervosa, a knock-in mice model carrying a missense variant in the cholecystokinin A receptor (CCKAR) |
2019 | Marc BAUD'HUIN | Nantes | Fondation Maladies Rares | Spondyloepimetaphyseal dysplasia SEMD | RIBObone |
2019 | Fabrice ANTIGNY | Le Plessis Robinson | Fondation Maladies Rares | PULMONARY ARTERIAL HYPERTENSION | Role of Orai1 in the pathogenesis of pulmonary arterial hypertension |
2019 | Massimo MANTEGAZZA | Nice | Fondation Maladies Rares | Autism, Intellectual Disability, Epileptic Encephalopathies, Neurodevelopmental Disorders | Knock-in mouse model for studying and treating negative dominant SCN2A mutations: a novel pathological mechanism specific of autism mutants. |
2019 | Daniel ABERDAM | Paris | Fondation Maladies Rares | ANIRIDIA; EYE DISEASE | Production d'iPSC dérivées de patients atteints d'aniridie, maladie oculaire rare due à des mutations non sens sur le gène PAX6. |
2019 | Christelle PEYRON | Lyon | Fondation Maladies Rares | Narcolepsy type 1 | Development of an hypocretin-KO rat model of narcolepsy type 1 |
2019 | Laurence LEGEAI-MALLET | Paris | Fondation Maladies Rares | X linked hypophosphatemia rare bone diseases | Zebrafish model of X-linked hypophosphatemia |
2019 | Frederic RELAIX | Créteil | Fondation Maladies Rares | Duchenne Muscular Dystrophy | Accurate preclinical modeling and treatment proof-of-principle for Duchenne Muscular Dystrophy |
2019 | Thomas BOULIN | Lyon | Fondation Maladies Rares | Mutations in Neurobeachin have only very recently been identified as causing a spectrum of neurodevelopmental deficits (autism, neurodevelopmental disorders, ataxia, epilepsy, dysarthria). It is not yet identified as a specific disease. | Modeling disease-causing mutations of Neurobeachin/NBEA in the nematode Caenorhabditis elegans |
2019 | Hamid-Reza REZVANI | Bordeaux | Fondation Maladies Rares | Xeroderma pigmentosum type C (XP-C) | Modelling of Pigmentary abnormalities in xeroderma pigmentosum type C |
2019 | Nadia BAHI-BUISSON | Paris | Fondation Maladies Rares | Spinal Muscular Atrophy with Lower Limb predominance Motor Neuron diseases | Investigating the cellular basis of DYNC1H1 related malformations of cortical development and spinal muscular Atrophy with lower limb predominance using targeted differentiation of human iPS cells |
2019 | Valérie DUPE | Rennes | Fondation Maladies Rares | Holoprosencephaly | ASSESSMENT OF FUNCTIONAL RELEVANCE OF SYNONYMOUS VARIANTS IN SHH IDENTIFIED IN PATIENTS WITH HOLOPROSENCEPHALY |
2019 | Olivier GOUREAU | Paris | Fondation Maladies Rares | Inherited retinal dystrophies (Retinitis Pigmentosa) | Modeling retinitis pigmentosa using retinal organoids derived from patient-specific induced pluripotent stem cells |
2019 | Philippe LORY | Montpellier | Fondation Maladies Rares | Childhood Cerebellar Atrophy (ChCA) | A mouse model of Childhood Cerebellar Atrophy (ChCA) is required to decipher the pathogenic mechanism and to design a therapeutic option |
2019 | Pascale BOMONT | Montpellier | Fondation Maladies Rares | Giant axonal neuropathy | Hit to Lead discovery for Giant Axonal Neuropathy |
2019 | Yvon TROTTIER | Strasbourg | Fondation Maladies Rares | Huntington's disease | Hit-to-lead development of amyloid aggregation modulators in Huntington’s disease and pioneering a new synergic strategy to potentiate their use in therapy |
2020 | Trang HA | Paris | Fondation Maladies Rares | Congenital Central Hypoventilation Syndrome | Congenital Central Hypoventilation Syndrome - searching causal genes in patients without PHOX2B mutations |
2020 | Julien BARC | Nantes | Fondation Maladies Rares | New rare cardiac syndrome associated with an enhancer deletion of chromosome 4q25 | Molecular mechanism of a new syndrome characterized by cardiac electrical and developmental defects and associated with an enhancer deletion of chromosome 4q25 |
2020 | Julie STEFFANN | Paris | Fondation Maladies Rares | Mitochondrial diseases | Does nuclear transfer alter mitochondrial-nuclear crosstalks in the human preimplantation embryo? |
2020 | Benoit ARVEILER | Bordeaux | Fondation Maladies Rares | Albinism | Search for new albinism genes |
2020 | Pierre-Louis THARAUX | Paris | Fondation Maladies Rares | Glomerular Diseases | "TRAJHISTORY projet: assessing single cell TRAJectories and alterations of cell communication and tissue HISTOry to get causal insights into rare and catastrophic glomerular diseases" |
2020 | Pierre RONCO | Paris | Fondation Maladies Rares | PLA2R-Associated Membranous Nephropathy | Whole Genome Sequencing to Unravel the Genetic Mechanisms of PLA2R-Associated Membranous Nephropathy |
2020 | Caroline SCHLUTH-BOLARD | Lyon | Fondation Maladies Rares | Neurodevelopmental Disorders | Characterization of 3D chromatin architecture disruption in chromosomal rearrangements to identify candidate genes in neurodevelopmental disorders |
2020 | François-Xavier MAUVAIS | Paris | Fondation Maladies Rares | Lysosomal Acid Lipase (LAL) deficiency | Identifying the molecular basis underlying the heterogeneity among the spectrum of lysosomal acid lipase deficiency by a proteogenomic approach supported by bioinformatics |
2020 | Alexandre FABRE | Marseille | Fondation Maladies Rares | Congenital Diarrhea Syndrom | Identification of new genes associated with syndromic congénital diarrhea syndrom |
2020 | Marion DELOUS | Lyon | Fondation Maladies Rares | Idiopathic scoliosis (IS) | Towards the identification of the genetic causes of rare autosomal dominant forms of idiopathic scoliosis |
2020 | Sylvie MAZOYER | Lyon | Fondation Maladies Rares | RNU4ATAC-associated rare diseases | A transcriptomic study in zebrafish models of RNU4ATAC-associated rare diseases: connecting U12 splicing defects to developmental abnormalities |
2020 | Laura MARY | Rennes | Fondation Maladies Rares | Disorders of sex development (DSD) | Identification of genes involved in syndromic disorders of sex development |
2020 | Sophie NICOLE | Montpellier | Fondation Maladies Rares | Monogenic motor channelopathies | Search for isoform-selective sodium channel modulators to treat monogenic motor channelopathies |
2020 | Lucile HOCH | Evry | Fondation Maladies Rares | Glycogen Storage Disease Type III | Use of pluripotent stem cells to model and treat GSDIII |
2020 | Veronique STOVEN | Paris | Fondation Maladies Rares | Cystic Fibrosis | New drugs for Cystic Fibrosis based on machine-learning approaches |
2020 | Eric DURAND | Marseille | Fondation Maladies Rares | Cystic Fibrosis | Towards the development of Pseudomonas aeruginosa « virulence blockers » targeting the T6SS nanomachine: A Hits-To-Lead approach |
2020 | Sandrine GULBERTI | Nancy | Fondation Maladies Rares | Mucopolysaccharidoses | Development of a specific inhibitor of the glycosyltransferase β4GalT7 for substrate reduction therapy in mucopolysaccharidoses: towards the hit to lead stage |
2020 | Thierry LEVEILLARD | Paris | Fondation Maladies Rares | Retinitis pigmentosa | BlindTimee: Reconstruction of the cone-photoreceptor outer segment to recover vison in a large model of retinitis pigmentosa |
2020 | Nathalie ANGEARD | Paris | Fondation Maladies Rares | Congenital central hypoventilation syndrome | Ressources attentionnelle chez l'enfant avec syndrome d'Ondine |
2020 | Karinne GUENICHE | Paris | Fondation Maladies Rares | Mayer-Rokitansky-Küster-Hauser syndrome | Evolution de l’impact psychosocial de l’annonce diagnostique du syndrome de Rokitansky: EIPSAMRKH5 |
2020 | Barbara LE DRIANT | Amiens | Fondation Maladies Rares | Permanent neonatal hearing impairment | Accompagnement des parents confrontés au diagnostic de surdité permanente néonatale : analyse des difficultés et des besoins. |
2020 | Yannick LE HENAFF | Ruen | Fondation Maladies Rares | Congenital diaphragmatic hernia | L'engagement dans les activités physiques et sportives chez les adolescents atteints de hernie de coupole diaphragmatique |
2020 | Pierre LOMBRAIL | Paris | Fondation Maladies Rares | Cystic Fibrosis | Expérience Patient du Parcours Mucoviscidose pendant la pandémie de Covid-19 |
2020 | Alain LOUTE | Lille | Fondation Maladies Rares | Amyotrophic lateral sclerosis | Evaluation des enjeux éthiques et juridiques de l’utilisation de la télémédecine dans le cadre de l’accompagnement de patients atteints de Sclérose latérale Amyotrophique en phase avancée |
2020 | Alexandre MATHIEU-FRITZ | Marne-la-Vallée | Fondation Maladies Rares | Cystic Fibrosis | Étude sociologique de l'accompagnement à l'autonomie en santé des patients adultes atteints de mucoviscidose à l'aide des nouvelles technologies et avec les professionnels de santé libéraux |
2020 | Aurore PELISSIER | Dijon | Fondation Maladies Rares | Intellectual diasbility (ID) | Configurations d’Aides et Situations d’Emploi pour les PRoches Aidants. Le cas des enfants atteints de maladies rares avec déficience intellectuelle. Une étude pilote. |
2021 | Sara BALDASSARRI | Paris | Fondation Maladies Rares | Focal Cortical Dysplasia (FCD) | Dissection of the genetic etiology of epilepsy with focal cortical dysplasia |
2021 | Guilaine BOURSIER | Montpellier | Fondation Maladies Rares | Amyloidosis of unknown cause (AAx) | Exome sequencing of inflammatory amyloidosis of unknown cause (AAx) |
2021 | Clément CARRE | Paris | Fondation Maladies Rares | Intellectual diasbility (ID) | Lost in translation: RNA methylation control translation in ID patient mutated in FTSJ1 |
2021 | Svetlana GOROKHOVA | Marseille | Fondation Maladies Rares | Early infantile epileptic encephalopathy | Integrating transposable element screening into the diagnostics of patients with rare genetic diseases |
2021 | Gilles LAVERNY | Illkirch | Fondation Maladies Rares | Idiopathic Infantile Hypercalcemia (IIH) | Identification of ZK therapeutic activities for Idiopathic Infantile Hypercalcemia |
2021 | Jean-Yves PICARD | Paris | Fondation Maladies Rares | Persistent Müllerian duct syndrome (PMDS) | Thinking outside the box : a search for new genes responsible for Müllerian regression |
2021 | Amélie PITON | Illkirch | Fondation Maladies Rares | Intellectual diasbility (ID) | Analysis of parental genomes in individuals with intellectual disability without pathogenic mutation identified by solo WGS |
2021 | Amédée RENAND | Nantes | Fondation Maladies Rares | AutoImmune Liver Diseases (AILD) | Tracking autoreactive CD4 T cells in rare autoimmune liver diseases |
2021 | Jean SOULIER | Paris | Fondation Maladies Rares | Fanconi Anemia | Dysfunctional hematopoietic stem cells and clonal hematopoiesis in Fanconi Anemia: what underlies an attenuated phenotype? |
2021 | Anne Claude TABET | Paris | Fondation Maladies Rares | Autism | Characterization of non recurrent duplications by next-generation optical mapping in patients with autism |
2021 | Angela TINGAUD-SEQUEIRA | Bordeaux | Fondation Maladies Rares | Oculo-Auriculo-vertebral spectrum | Whole-genome sequencing in the complex Oculo-Auriculo-vertebral spectrum: application on whole-exome sequencing negative familial cases versus direct analysis |
2022 | Izabela SUMARA | Illkirch | Fondation Maladies Rares | Fragile X syndrome | Therapeutic dissolution of aberrant nucleoporin condensation in Fragile X syndrome using small molecule inhibitors |
2022 | Marco PONTOGLIO | Paris | Fondation Maladies Rares | HNF1B-Cakut (Congenital abnormalities of the Kidney and the Urogenital tract HNF1B-ADTKD (Autosomal Dominant Tubulo-Interstitial Kidney Disease) | A pharmacological therapy for HNF1B-deficiency |
2022 | Barbara BARDONI | Valbonne | Fondation Maladies Rares | Fragile X Syndrome Autism Spectrum Disorder Intellectual disability | Identification of drug candidates to treat the Fragile X Syndrome |
2022 | Mahel ZEGHOUF | Saclay | Fondation Maladies Rares | X-linked non-syndromic intellectual disability (ORPHA:777) IQSEC2-related syndromic intellectual disability (ORPHA:397933) | High Throughput Screening of IQSEC2 activity modulators: towards new pharmacotherapeutic approaches in X-linked intellectual disability (SCREENXLID) |
2022 | Cécile VOISSET | Brest | Fondation Maladies Rares | Creutzfeldt-Jakob disease (CJD) Gerstmann–Sträussler–Scheinker (GSS)syndrome Fatal familial insomnia (FFI) | Identification and structural optimization of novel first-in-class anti-prion compounds |
2022 | Minchul KIM | Illkirch | Fondation Maladies Rares | Tubular aggregate myopathy (TAM) | Tracking the origin of tubular aggregate myopathy by single-nucleus transcriptomics |
2022 | Djihad HADJADJ | Paris | Fondation Maladies Rares | Predisposition to familial midgut carcinoid tumors (FMCT). Predisposition to neuroendocrine tumors. | Identification of constitutional genetic abnormalities predisposing to Familial midgut carcinoid tumors |
2022 | Marion DELOUS | Lyon | Fondation Maladies Rares | Taybi-Linder Syndrome, TALS or Microcephalic Osteodysplastic Primordial Dwarfism type I (MOPDI), OMIM 210710 Roifman Syndrome, RFMN, OMIM 616651 Lowry-Wood Syndrome, LWS, OMIM 226960 | TRANSCRIPTOMIC STUDY DURING NEURONAL DIFFERENTIATION OF RNU4ATAC-ASSOCIATED RARE DISEASES: CONNECTING SPLICING DEFECTS TO BRAIN DEVELOPMENTAL ABNORMALITIES |
2022 | Stéphane VIVILLE | Starsbourg | Fondation Maladies Rares | Infertility Male infertility Azoospermia Non-obstructive azoospermia | Deciphering genetic causes of non-obstructive azoospermia via exome sequencing; a way to personalize treatments and to develop new diagnostic tools. |
2022 | Audrey PUTOUX | Lyon | Fondation Maladies Rares | Anencephaly | Towards the identification of genes involved in recurrent anencephaly |
2022 | Marie-Louise FREMOND | Paris | Fondation Maladies Rares | Rheumatoid factor positive arthritis Type I interferonopathies | Identifying Novel Monogenic Interferon-Mediated Juvenile Rheumatoid Arthritis |
2022 | Xavier PUECHAL | Paris | Fondation Maladies Rares | Whipple disease | Deciphering genetic and molecular bases of Whipple disease |
2022 | Sandrine VUILLAUMIER-BARROT | Paris | Fondation Maladies Rares | congenital disorder of glycosylation | Research of homozygous variant in 5’ or 3’UTR ALG12 region or cis regulating elements by whole genome for one ALG12-CDG suspected patient |
2022 | Céline HUBER | Paris | Fondation Maladies Rares | Chondrodysplasias with multiple dislocations (CMD) form a group of severe disorders including : -Desbuquois dysplasia type 2 (MIM: 615777/AR) -Neonatal short limb dysplasia (MIM: –/AR) -Ehlers-Danlos syndrome (EDS) progeroid variant or EDS spondylodysplastic type 1 (EDSSPD1), including Larsen syndrome, la Reunion variant (MIM: 130070/AR) -Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type (MIM: 271640/AR) or EDS spondylodysplastic type 2 (EDSSPD2) (MIM: 615349/AR) -Larsen-like syndrome (MIM: 245600/AR) -Joint dislocations and skeletal dysplasia, Desbuquois-like (MIM: 618870/AR) -Temtamy preaxial brachydactyly syndrome (TPBS) (MIM: 605282/AR) -Ehlers-Danlos syndrome musculocontractural type 2 (MIM: 615539/AR) -Diastrophic dysplasia (MIM: 222600/AR) -Recessive Larsen syndrome or spondyloepiphyseal dysplasia with congenital joint (MIM: 143095/AR) -Ehlers-Danlos syndrome musculocontractural type 1 (MIM: 601776/AR) -Chondrodysplasia with joint dislocations, gPAPP type (MIM: 614078/AR) -Multiple congenital malformation syndrome including vertebral malsegmentation and joint dislocations (MIM: –/AR) -Skeletal dysplasia, osteoporosis, multiple dislocations and amelogenesis imperfecta (MIM: 618363/AR) -Desbuquois dysplasia type 1, including Kim variant (MIM: 251450/AR) -Recessive multiple epiphyseal dysplasia (MIM: 617719/AR) -TMEM-CDG (MIM: 614727/AR) | Identification of new pathogenic variants in individuals with Chondrodysplasias with multiple dislocations (CMD) combining WGS and RNASEQ |
2022 | Alice LEPELLEY | Paris | Fondation Maladies Rares | Rare bone diseases | Characterisation of the role of IFN signalling in neural cells in ATAD3A disease |
2022 | Florian LESAGE | Nice | Fondation Maladies Rares | Rare neurological diseases, Developmental anomalies and malformation syndromes | Mouse models of human Birk Barel syndrome |
2022 | Sarah BECK-CORMIER | Nantes | Fondation Maladies Rares | Rare neurological diseases | Generation of a new mouse model for the rare PFBC disease |
2022 | Justine MASSON | Paris | Fondation Maladies Rares | Rare neurological diseases | Cortical and cerebellar organoids, new models to study a rare neurodeveloppemental disease caused by mutations in the YIF1B gene |
2022 | David HICKS | Strasbourg | Fondation Maladies Rares | Sensory disorders (rare eye diseases and deafness) | Creation of a diurnal rodent model of Stargardts Disease STGD1 |
2022 | Stéphanie TRUDEL | Toulouse | Fondation Maladies Rares | Rare neurological diseases | Generation and characterization of iPSCs from Sanfilippo type B patients fibroblast |
2022 | Matthieu GIRAUD | Nantes | Fondation Maladies Rares | Rare systemic and autoimmune disorders, Immune deficiency disorders | A new rat model of deficient anterior pituitary gland with variable immune deficiency syndrome by mutation of the NFKB2 gene |
2022 | Anne-Cécile REYMANN | Strasbourg | Fondation Maladies Rares | Rare neurological diseases, Other rare diseases | CRISPR targeted mutagenesis of C. elegans actin: novel insights into the understanding of human non-muscle actinopathies |
2022 | Valérie ALLAMAND | Paris | AFM Téléthon | Neuromuscular disease, connective tissue disorders | Suppression of premature termination codons by anticodon-edited tRNAs |
2022 | David BONNAFE | Orsay | AFM Téléthon | Sjögren’s Syndrome, Rare systemic and autoimmune disorders | A new way of targeting IFN-g for ocular dryness of primary Sjögren’s Syndrome: towards eye-drops of glycomimetics endowed with nanomolar anti-IFN-g activities. |
2022 | Cécile CONTIN-BORDES | Bordeaux | AFM Téléthon | Systemic Sclerosis, Rare systemic and autoimmune disorders | Endothelial cell-induced macrophages efferocytosis alteration during Systemic Sclerosis: mechanistic dissection and new therapeutic intervention to limit fibrosis. |
2022 | Isabelle MARTY | La Tronche | AFM Téléthon | Neuromuscular disease | Nanoblades as a genome editing tool for neuromuscular disorders |
2022 | Olivier TABARY | Paris | AFM Téléthon | Cystic Fibrosis, Other rare diseases | Development of a new microRNA therapeutic approach for the treatment of all patients with Cystic Fibrosis |
2022 | Isabelle TALON | Strasbourg | AFM Téléthon | Developmental anomalies and malformation syndromes | Pediatric mesh innovation with 3D bioprinting process : the first prosthesis design for children |
2013 | claude BESMOND | Paris | Mécène de la Fondation Maladies Rares | Other rare diseases | NiNi |
2013 | Jean-Luc Galzi | Strasbourg | Mécène de la Fondation Maladies Rares | Immune deficiency disorders | Identification de neutraligands de CXCL12 et d’antagonistes de CXCR4 pour bloquer le gain de fonction de signalisation lié au syndrome WHIM |
2013 | Laurent GOUYA | Paris | Mécène de la Fondation Maladies Rares | Hereditary metabolic diseases | Traitement des Porphyries Hépatiques Aiguës et Erythropoïétiques : Recherche d’inhibiteurs des enzymes régulatrices ALAS1 et ALAS2 |
2013 | Laurence LEGEAI-MALLET | Paris | Mécène de la Fondation Maladies Rares | Rare head and neck malformations | Anomalies cranio-faciales et FGFR3 |
2013 | Christel THAUVIN-ROBINET | Dijon | Mécène de la Fondation Maladies Rares | Rare head and neck malformations | Création d’un modèle murin du syndrome de Cohen |
2019 | Naziha KHEN-DUNLOP | Paris | Associatif (APEDHia) | Developmental anomalies and malformation syndromes | FETAL LUNG EVALUATION ON BOLD-MRI IN CONGENITAL DIAPHRAGMATIC HERNIA |
2019 | Bertrand DIEUSAERT | Hirson | Associatif (AFAF) | Rare neurological diseases | COM-ATAXIE Recherche de solutions innovantes d’aide à la communication pour les personnes ataxiques (Ataxie de Friedreich et ataxies proches) via les outils numériques |
2019 | Jean-Paul LASSERRE | BORDEAUX | Associatif (BPAN) | Rare neurological diseases | UTILISATION DE LA LEVURE POUR LE REPOSITIONNEMENT DE MOLECULES A VISEE THERAPEUTIQUE DANS LE BPAN ET L’ANALYSE DE VARIANTS WDR45 |
2019 | Guillaume CANAUD | Paris | Mécène de la Fondation Maladies Rares | Syndromes d'hypercroissance | Syndromes d’hypercroissance : amélioration de l’état de santé des patients |
2020 | Aloïse MABONDZO | Saclay | Associatif (Xtra) | Rare neurological diseases | Développement d'un futur médicament pour traiter le déficit en transporteur de la créatine |
2020 | Pedro Henrique DE LIMA PRATA | Paris | Associatif (HPN) | Rare non-malignant hematological diseases | Inherited complement regulatory gene mutations in paroxysmal nocturnal hemoglobinuria: an influence in disease presentation and treatment efficacy? |
2020 | Simona PAGLIUCA | Cleveland | Associatif (HPN) | Rare non-malignant hematological diseases | Immunogenomics of idiopathic bone marrow failure disorders: immune-escape mediated by class I/II HLA somatic mutations |
2020 | Julien NIZARD | Nantes | Associatif (Algo France) | Rare neurological diseases | Towards a better consideration of patients' feelings in complex regional pain syndrome (CRPS): a study mixing quantitative and qualitative approaches to test and make recommendations regarding the use of a Body Perception Disturbances (BPD) assessment tool. |
2020 | Valérie DESQUIRET-DUMAS | Angers | Mécène de la Fondation Maladies Rares | Hereditary metabolic diseases | Targeted-therapeutic approaches to restore oxidative metabolism in rare diseases associated to mitochondrial complex I mutations |
2020 | Marie-Paule GELLE | Reims | Mécène de la Fondation Maladies Rares | Rare head and neck malformations | Améliorer le parcours de soin des enfants présentant des anomalies dentaires rares |
2020 | Isabelle TALON | Strasbourg | Mécène de la Fondation Maladies Rares | Developmental anomalies and malformation syndromes | Améliorer le parcours de soin et de vie des enfants atteints d’hernie diaphragmatique congénitale |
2020 | Véronique DANEL BRUNAUD | Lille | Mécène de la Fondation Maladies Rares | Neuromuscular disorders | Mise en place de téléconsultations pour les patients touchés par une Sclérose Latérale Amyotrophique au stade avancé et pris en charge en Hospitalisation à Domicile (HAD) |
2021 | Sandrine CARABEUX | Paris | Associatif (PraderWilli) | Developmental anomalies and malformation syndromes | Explorer un nouveau mode d'intervention sociale pour améliorer l'accompagnement des personnes atteintes du SPW et d'autres handicaps rares et complexes. |
2021 | Hélène DOLLFUS | Strasbourg | Associatif (BBS) | Sensory disorders (rare eye diseases and deafness) | Développement de thérapies innovantes pour traiter la rétinopathie pigmentaire associée au Syndrome de Bardet-Biedl (collab. Deniz Dalkara) |
2021 | Marc BITOUN | Paris | Associatif (PACS1) | Developmental anomalies and malformation syndromes | Proof of concept of therapy by allele-specific silencing for the Schuurs-Hoeijmakers Syndrome |
2021 | Guy LENAERS | Angers | Associatif (AAP AMMi) | Rare neurological diseases | A pharmacological approach of the Leigh syndrome related to MTFMT recessive variants |
2021 | Alessandro PRIGIONE | Dusseldorf | Associatif (AAP AMMi) | Rare neurological diseases | Modeling Leigh syndrome caused by MTFMT mutations using patient- specific neuronal cells |
2021 | Kevin LE DUC | Lille | Associatif (APEHDia) | Developmental anomalies and malformation syndromes | Impact of analgesia before intubation and intact cord resuscitation on cardiorespiratory adaptation at birth: study on a CDH newborn lamb’s model. |
2021 | Jamila FAIVRE | Villejuif | Associatif (ALBI) | Rare hepato-gastroenterological diseases | Immune landscape in human primary sclerosing cholangitis |
2021 | Sara LEMOINNE | Paris | Associatif (ALBI) | Rare hepato-gastroenterological diseases | Effect of the probiotic Faecalibacterium prausnitzii in primary sclerosing cholangitis |
2021 | Amedée RENAND | Nantes | Associatif (ALBI) | Rare hepato-gastroenterological diseases | Direct effect of steroid hormone pathways on pathogenic T lymphocytes in auto-immune liver diseases. |
2021 | Ingrid BANOVIC | Rouen | Associatif (AAP HPN) | Rare non-malignant hematological diseases | Fatigue Chronique et fonctionnement cognitif des patients atteints de HPN et AM |
2021 | David MICHONNEAU | Paris | Associatif (HPN) | Rare non-malignant hematological diseases | Compréhension des mécanismes de la tolérance opérationnelle après allogreffe de cellules souches hématopoïétiques |
2021 | Céline LANCELOT | Angers | Mécène de la Fondation Maladies Rares | Rare endocrine disorders | Mieux comprendre le fonctionnement social et émotionnel des jeunes filles avec un syndrome de Turner pour mieux les accompagner dans la vie quotidienne |
2021 | Françoise SCHMITT | Angers | Mécène de la Fondation Maladies Rares | Rare hepato-gastroenterological diseases | Laparo-DAN Améliorer le diagnostic et le parcours de soin des enfants souffrant de malformations digestives rares - Etude prospective des critères diagnostiques anténataux de complications digestives des laparoschisis |
2021 | Clémence VANLERBERGHE | Lille | Mécène de la Fondation Maladies Rares | Developmental anomalies and malformation syndromes | Deciphering The Genetic Basis of Fibular Hypoplasia/ Agenesis - Functional Studies For Non Coding Variants |
2021 | Audrey LECOUFLE | Lille | Mécène de la Fondation Maladies Rares | Developmental anomalies and malformation syndromes | Améliorer la prise en charge d'enfants souffrant d'atresie de l'oesophage |
2021 | Fabrice LEJEUNE | Lille | Mécène de la Fondation Maladies Rares | Pulmonary rare diseases | Caracterisation des nouvelles molécules correctrices de mutation non-sens |
2021 | Betty GARDIE | Nantes | Mécène de la Fondation Maladies Rares | Maladie de von Hippel-Lindau | Etude des mutations identifiées dans les nouveaux exons du gène VHL associées à des polyglobulies ou la maladie de VHL |
2021 | Betty GARDIE | Nantes | Mécène de la Fondation Maladies Rares | Maladie de von Hippel-Lindau | Modélisation cellulaire des pathologies associées aux mutations du gène VHL |
2021 | Nicoletta DIASIO | Strasbourg | Mécène de la Fondation Maladies Rares | Developmental anomalies and malformation syndromes | La fabrique hormonale du genre et des âges : entre négociations et médicalisation des variations corporelles - PHARMAGENRE |
2021 | Roland LIBLAU | Toulouse | Mécène de la Fondation Maladies Rares | Rare systemic and autoimmune disorders | HUMAN IMMUNE SIGNATURES OF NARCOLEPSY WITH CATAPLEXY (2021) |
2021 | Pascale QUIGNON | Rennes | Mécène de la Fondation Maladies Rares | Rare neurological diseases | Genetic research in canine epilepsies as models for human epilepsies |
2021 | Jérome DINET | Nancy | Mécène de la Fondation Maladies Rares | Rare non-malignant hematological diseases | HEMOGAME Co-conception d’un prototype d’un serious game destiné aux enfants atteints de troubles de la coagulation, à leurs parents et aux enseignants |
2021 | Dan ISTRATE | Compiègne | Mécène de la Fondation Maladies Rares | Other rare diseases | DEDALE : Outil facilitant l’accès aux aides médico-sociales par l’expression des besoins du patient |
2021 | Guy LENAERS | Angers | Mécène de la Fondation Maladies Rares | Other rare diseases | Intérêt de la micro-nutrition pour le traitement des maladies rares |
2022 | Pierre-Olivier FERNAGUT | Poitiers | Associatif (ARAMISE) | Rare neurological diseases | Alpha-synuclein and the fate of oligodendrocytes in Multiple System Atrophy |
2022 | Nathalie JONCA | Toulouse | Associatif (AIF) | Dermatological diseases | RARESKINLIP: Innovative in vitro models of ichthyosis to assess the efficiency of a novel lipid substitutive therapy in the rescue of the epidermal barrier |
2022 | Dimitri MOREAU | Geneve | Associatif (PACS1) | Developmental anomalies and malformation syndromes | Development of a robust cell-based microscopy assay for compound screening project on PACS1 (R203W) rare disease |
2022 | Gaëlle BOUGEARD | Rouen | Associatif (Li-Fraumeni) | Rare cancers | TP53 wt allele as a modifier factor in Li-Fraumeni syndrome |
2022 | Hamid-Reza REZVANI | Bordeaux | Mécène de la Fondation Maladies Rares | Dermatological diseases | Modelling of pigmentary abnormalities in xeroderma pigmentosum type c (XPC) |
2022 | Alban BARUTEAU | Nantes | Mécène de la Fondation Maladies Rares | Cardiovascular diseases | OSCAR : Outil de Suivi CARdiop diatrique domicile |
2022 | Lucile SESE | Paris | Mécène de la Fondation Maladies Rares | Pulmonary rare diseases | Rôle des facteurs socio-économiques et environnementaux sur l’histoire naturelle de la fibrose pulmonaire idiopathique : EXPOSOMFPI |
2022 | Guillaume CANAUD | Paris | Mécène de la Fondation Maladies Rares | Syndromes d'hypercroissance | PIK3CA cible thérapeutique de choix des malformations vasculaires liées à des mutations de la voie RAS |
2022 | Damien BREZULIER | Rennes | Mécène de la Fondation Maladies Rares | Connective tissue disorders | Validation d’un modèle porcin de défauts osseux en site de croissance pour la reconstruction |
2022 | Gaëlle BOUGEARD | Villejuif | Mécène de la Fondation Maladies Rares | Syndrome de Li-Fraumeni | Innovation technologique pour l’amélioration de la prise en charge et la recherche d’un traitement dans le syndrome de Li-Fraumeni |
2022 | Nicolas PENEL | Lille | Prix - Fondation APICIL | Rare cancers | Base de données clinico-biologiques prospectives des tumeurs desmoïdes |
2021 | Léon KAUTZ | Toulouse | Prix - Alnylam Pharmaceuticals | β-thalassémie | Cibler l’hépatokine ERFE-2 pour diminuer la surcharge en fer et améliorer l’anémie dans la β-thalassémie |
2021 | Pierre-Louis THARAUX | Paris | Prix - Alnylam Pharmaceuticals | Glomerular Diseases | SILENT COLLAPSE : miRNome des glomérulopathies collapsantes humaines et expérimentales et preuve de concept thérapeutique par silençage génique du miR-92a |
2022 | Christine LEAUTE-LABREZE | Bordeaux | Prix - Alnylam Pharmaceuticals | Syndrome de Sturge-Weber, Dermatological diseases | Approche ARN interférent ciblant la mutation du gène GNAQ dans les anomalies vasculaires |