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

Nos lauréats et leurs projets

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