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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AnnéeChercheurVilleFinanceurGroupe de maladie / maladieTitre
2012Jeanne AMIELParisFondation Maladies RaresNeurocristopathyIdentification of the molecular bases of a rare neurocristopathy leading to congenital malformation and tumour predisposition
2012Jerôme BERTHERATParisFondation Maladies RaresMacronodular adrenal hyperplasiaGenetic of macronodular adrenocortical hyperplasia (GENEHYPER)
2012Celine BOUCHET-SERAPHINParisFondation Maladies RaresCobblestone lissencephalyIdentification of a novel gene responsible for lissencephaly type II in a consanguineous multiplex family
2012Pascale GUICHENEYParisFondation Maladies RaresIdiopathic ventricular fibrillation- Brugada syndromeIdentification of a new gene responsible for idiopathic ventricular fibrillation associated with short-coupled variant of torsade de pointes
2012Andreas HARTMANNParisFondation Maladies RaresTourette syndromeIdentification of variants and genes involved in Gilles de la Tourette syndrome
2012Cecile JULIERParisFondation Maladies RaresNeonatal diabetes mellitusIdentification d’un gene responsable de diabete neonatal syndromique
2012Rima NABBOUTParisFondation Maladies RaresEpilepsy with myoclonic-astatic seizuresExome sequencing to identify genes associated with myoclonic astatic epilepsy
2012Karine POIRIERParisFondation Maladies RaresSubcortical band heterotopiaIdentification of new genes involved in subcortical band heterotopia
2012Cecile SAINT-MARTINParisFondation Maladies RaresAutosomal dominant hyperinsulinismIdentification of the gene(s) responsible for dominant congenital diazoxide-responsive hyperinsulinism in a large family
2012Sandrine VUILAUMIER-BARROTParisFondation Maladies RaresType I congenital disorder of glycosylationExome sequencing of one CDG Ix patient (congenital disorder of glycosylation type I) in a family with one healthy sibling
2012Christel THAUVIN-ROBINETDijonFondation Maladies RaresOrofaciodigital syndromeIdentification in the gene(s) implicated in OFD syndrome with median defects
2012Patrice BOUVAGNETLyonFondation Maladies RaresHypoplastic left heart syndromeHypoplastic Left Heart Syndrome (HLHS)
2012Marc BARTOLIMarseilleFondation Maladies RaresInclusion Body Myositis, Paget disease and Fronto-temporal Dementia/Amyotrophic Lateral SclerosisIdentification of a disease-causing gene for IBMPFD / ALS (Inclusion Body Myositis, Paget disease and Fronto-temporal Dementia/Amyotrophic Lateral Sclerosis)
2012Nicolas CHASSAINGToulouseFondation Maladies RaresAnophthalmia - microphthalmiaIdentification of new anophthalmic/microphthalmic genes by exome sequencing
2012Cyril GOIZETBordeauxFondation Maladies RaresLipodystrophy and leukodystrophy syndromeIdentification of a gene involved in a new syndrome associating lipodystrophy and leukodystrophy (LLD syndrome)
2012Sylvie ODENTRennesFondation Maladies RaresAmelo-cerebro-hypohidrotic syndrome (Kohlschütter-Tönz syndrome)Whole exome sequencing in Köhlschutter-Tonz syndrome with probable autosomal dominant transmission
2012Annick TOUTAINToursFondation Maladies RaresSpastic paraplegia - glaucoma - intellectual deficitIdentification of the causal gene of a rare syndrome comprising intellectual disability, glaucoma and spastic paraplegia
2012Thierry BIENVENUParisFondation Maladies RaresNeonatal epileptic encephalopathiesIdentification of new genes involved in neonatal epileptic encephalopathies associated with Rett-like features
2012Thierry BRUE
ParisFondation Maladies RaresPituitary hormone deficiencyExome Project In Combined Pituitary Hormone deficiency (EPIC) Study
2012Lydie BURGLENParisFondation Maladies RaresCongenital cerebellar ataxiaIdentification of congenital ataxias genes by exome sequencing
2012Bernard GRANDCHAMPParisFondation Maladies RaresMicrocytic anemiaIdentification of causative gene(s) in rare inherited microcytic anemias
2012Delphine HERONParisFondation Maladies RaresIntellectual deficiency syndromeIdentification of the gene involved in a new form of syndromic recessive intellectual deficiency
2012Sophie NICOLEParisFondation Maladies RaresHereditary thermosensitive neuropathySearch for the gene responsible for the hereditary neuropathy with thermosensitivity (complementary whole exome)
2012Frederic RIEUX-LAUCATParisFondation Maladies RaresSystemic lupus erythematosusIdentification of genetic factors involved in the pathophysiology of early-onset Systemic Lupus Erythematosus
2012Franck RUMMELEParisFondation Maladies RaresBowel diseaseGenetic causes of very-early onset inflammatory bowel diseases
2012Sandrine VUILLAUMIER-BARROTParisFondation Maladies RaresType I congenital disorder of glycosylationExome sequencing of one CDG Ix patient (congenital disorder of glycosylation type I) presenting with a novel biochemical phenotype
2012Agnes BLOCH-ZUPANIllkirchFondation Maladies RaresEnamel knot and dental cusps anomalyMorphodent : Identification of a gene involved in the enamel knot signaling centre and dental cusps morphogenesis and anomalies
2012Patrick CALLIERDijonFondation Maladies RaresPai syndromeIdentification of the gene for Pai syndrome through complete exome sequencing
2012Jocelyn LAPORTEIllkirchFondation Maladies RaresMyopathiesIdentification of novel genes implicated in different myopathies by exome sequencing
2012Pierre VABRESDijonFondation Maladies RaresSACRAL/PELVIS syndromeIdentification of postzygotic mutations in SACRAL/PELVIS syndrome
2012Philippe CHEVALIERLyonFondation Maladies RaresFamilial atrial fibrillationIdentification of novel gene responsible of familial atrial fibrillation
2012Pierre RAYGrenobleFondation Maladies RaresOocyte maturation failureInvestigation of the genetic aetiology of oocyte maturation failure (OMF) by exome sequencing.
2012Marie-Christine ALESSIMarseilleFondation Maladies RaresMacrothrombocytopeniaIdentify new causes of hereditary Macrothrombocytopenia
2012Catherine BADENSMarseilleFondation Maladies RaresMetabolic diseaseApplication of high throughput sequencing to the study of patients suffering from metabolic syndrome with an abnormal nuclear cell profile
2012Gwenaelle COLLOD-BEROUDMarseilleFondation Maladies RaresFocal dystoniaIn search of new genes responsible for dystonia
2012Guy LENAERSMontpellierFondation Maladies RaresAutosomal dominant optic atrophyNew genes for Autosomal Dominant Optic Atrophy
2012Gaël MANESMontpellierFondation Maladies RaresRetinitis pigmentosaIdentification of novel genes in autosomal dominant retinitis pigmentosa
in three extensively pre-screened large families
2012Veronique PAQUIS-FLUCKINGERNiceFondation Maladies RaresMitochondrial diseasesMitochondrial diseases with multiple respiratory chain deficiency :
Identification of new genes by exome sequencing
2012Stephane DECRAMERToulouseFondation Maladies RaresCongenital hyperechogenic kidneyIdentification of new genes involved in congenital hyperechogenic kidneys
2013Herve CHAMBOSTMarseilleFondation Maladies RaresHaemorrhagic diseasesInput of a multidisciplinary management approach in announcing the diagnosis for young children with serious constitutional haemorrhagic diseases and their families
2013Severine COLINET - Laurence HEIDETGennevilliersFondation Maladies RaresRenal fœtal pathologyAnnouncement of a severe renal foetal pathology detected during pregnancy
2013Federico DI ROCCOParisFondation Maladies RaresCraniosynostosisCraniosynostosis: how to improve the announcement of the diagnosis and support patients and their families?
2013Virginie POSTALBordeauxFondation Maladies RaresPrader-Willi syndromeAssessment of the impact of cognitive, executive and emotional abilities on the difficulties of adaptation and socialization of patients with PWS
2013Maria TEIXEIRAParisFondation Maladies RaresSickle cell disease - Cystic fibrosisTransition and insertion in the adult world of young people with sickle cells disease or cystic fibrosis
2013Pascal JOLYRouenFondation Maladies RaresPemphigusIdentification of vulnerability factors in the course of pemphigus patients
2013Philippe METELLUSMarseilleFondation Maladies RaresVon Hippel-Lindau diseasePsychosocial consequences of screening for Von Hippel-Lindau disease in patients operated for an hemangioblastoma of the central nervous system
2013Philippe ALLAINAngersFondation Maladies RaresHuntington diseaseBehavioural disorders in Huntington's disease: Analysis and valorisation of the expertise of the patients and their caregivers
2013Chantal HARDYNantesFondation Maladies RaresSteinert myotonic dystrophySociological approach to lifestyle habits of adults with myotonic dystrophy type 1
2013Melanie JACQUOTStrasbourgFondation Maladies RaresNeuromuscular diseaseClinical and psychopathological approach of neuromuscular disease on gender identity
2013Agnes ROTIGParisFondation Maladies RaresHepatic failure of mitochondrial originTargeted region sequencing in hepatic failure of mitochondrial origin
2013Alain TAIEBBordeauxFondation Maladies RaresTrichothiodystrophyTFIIH sequencing of a new TTD (trichothiodystrophy) phenotype
2013Benoit ARVEILERBordeauxFondation Maladies RaresOculocutaneous albinismExome sequencing to find new gene(s) involved in oculocutaneous albinism
2013Bertrand ISIDORNantesFondation Maladies RaresCamurati-Engelmann diseaseIdentification of the disease causing gene in sporadic and familial forms of Camurati- Engelmann syndrome not linked to TGFB1
2013Cecile JULIERParisFondation Maladies RaresJuvenile onset insulindependent diabeteIdentification of genes responsible for monogenic forms of juvenile onset insulindependent diabetes
2013Fabienne ESCANDELilleFondation Maladies RaresHolt-Oram syndromeIdentification of new genes involved in Holt Oram Syndrome by Exome Sequencing
2013Helene DOLLFUSStrasbourgFondation Maladies RaresBardet-Biedl syndromeNovel genes identification in Bardet-Biedl Syndrome (BBS)
2013Mathilde VARRETParisFondation Maladies RaresFamilial hypercholesterolemiaIdentification of new genes involved in rare forms of autosomal dominant hypercholesterolemia
2013Pascale DELONLAYParisFondation Maladies RaresRhabdomyolysisIdentification of the gene(s) responsible for recessive rhabdomyolysis in 10 patients from 5 families presenting the same phenotype
2013Pascale RICHARDParisFondation Maladies RaresInherited cardiomyopathyIdentification of new genes associated with inherited cardiomyopathies.
2013Patrice BOUVAGNETLyonFondation Maladies RaresTetralogy of FallotTetralogy of Fallot
2013Richard REDONNantesFondation Maladies RaresArrhythmia syndromes : Early repolarisation syndromeA genetic survey on Early Repolarisation Syndrome
2013Rima NABBOUTParisFondation Maladies RaresFebrile Induced Refractory Epilepsy in SchoolExome sequencing to identify genes associated with FIRES (Febrile Induced Refractory Epilepsy in School)
2013Sophie SAUNIERParis
Fondation Maladies RaresNephronophthisisIdentification of new genes involved in nephronophthisis
2013Stephane BEZIEAUNantesFondation Maladies RaresAcrodermatitis enteropathica, zinc deficiency typeWhole-exome sequencing of a cohort of patients with inherited forms of zinc deficiency acrodermatitis enteropathica-like
2013Alexandra HENRION-CAUDEParisFondation Maladies RaresBiliary atresiaBiliary atresia in consanguineous and familial cases
2013Annick TOUTAINToursFondation Maladies RaresX-linked intellectual disabilityIdentification of the causal gene in a family with non specific X-linked disability
2013Claude FERECBrestFondation Maladies RaresAutosomal dominant polycystic kidney diseaseSearch for a new locus involved in dominant cystic kidney disease
2013Claude JARDELParisFondation Maladies RaresMitochondrial diseasesTowards the identification of novel genes involved in mitochondrial functions in genetically and biochemically informative patients
2013Corinne ANTIGNACParisFondation Maladies RaresIdiopathic steroid-sensitive nephrotic syndromeIdentification of genes involved in autosomal recessive steroid-sensitive nephrotic syndrome (SSNS)
2013Cyril MIGNOTParisFondation Maladies RaresSepto-optic dysplasiaIdentification of a gene involved in septo optic dysplasia with schizencephaly
2013Emmanuel FLAMAND-ROZEParisFondation Maladies RaresParoxysmal kinesigenic dyskinesiaIdentification of new genes involved in paroxysmal kinesigenic dyskinesias
2013Eric PASMANTParisFondation Maladies RaresCarcinoid tumor and carcinoid syndromeExome sequencing for identification of the gene responsible for a rare familial midgut carcinoid tumor syndrome
2013Federico DI ROCCOParisFondation Maladies RaresFamilial scaphocephaly syndromeExome sequencing of familiar isolated scaphocephalies
2013Florent SOUBRIERParisFondation Maladies RaresHereditary hemorrhagic telangiectasiaGenetics of hereditary hemorrhagic telangiectasia
2013Gaetan LESCALyonFondation Maladies RaresWest syndromeIdentification of novel genes involved in West syndrome in ten patients with extensive pre-screening.
2013Jean-Baptiste RIVIEREDijonFondation Maladies RaresSpondylocostal dysostosisUnraveling the genetic basis of spondylocostal dysostosis
2013Jean-Jacques SCHOTTNantesFondation Maladies RaresFamilial mitral valve prolapseGenetic analysis of inherited mitral valve prolapse
2013Laurent VILLARDMarseilleFondation Maladies RaresEarly infantile epileptic encephalopathyIdentifying genetic causes of early infantile epileptic encephalopaties
2013Mathieu BARBIERParisFondation Maladies RaresFamilial thoracic aortic aneurysm and aortic dissectionIdentification of new gene involved in familial thoracic aortic aneurysm and dissection (FTAAD)
2013Patricia FERGELOTBordeauxFondation Maladies RaresRubinstein-Taybi syndromeExome study in Rubinstein-Taybi syndrome patients with no alteration in the CREBBP and EP300 genes
2013Rosa VARGAS POUSSOUParisFondation Maladies RaresDistal renal tubular acidosisIdentification of new gene(s) responsible for recessive distal Renal Tubular Acidosis
2013Sandrine VUILLAUMIER-BARROTParisFondation Maladies RaresType I congenital disorder of glycosylationExome sequencing of 8 patients with a neurologic form of type I congenital disorder of glycosylation
2013Severine DRUNATParisFondation Maladies RaresBaraitser-Winter syndromeBaraitser-Winter syndrome – searching causal genes in patients without ACTB/G1 mutations
2013Stephane VIVILLEIllkirchFondation Maladies RaresPartial chromosome Y deletionGenetics of male infertility: genes implicated in non-obstructive azoospermia
2013Sylvain LATOURParisFondation Maladies RaresInherited lymphoproliferation syndromesMolecular identification of novels forms of inherited lymphoproliferation syndromes associated with a susceptibility to EBV infection
2013Valerie CORMIER-DAIREParisFondation Maladies RaresSpondylodysplastic dysplasiaFurther identification of the molecular basis of the spondylodysplastic dysplasias group through the study of 6 families
2013Veronique PINGAULTCreteilFondation Maladies RaresWaardenburg syndromeIdentifying new genes of Waardenburg syndrome
2013Jeanne AMIELParisFondation Maladies RaresEpiphyseal, vertebral, and ear dysplasiaProposal to create a mouse model of EVE dysplasia by generating Hspa9 knockout mice
2013Delphine DELACOURParisFondation Maladies RaresCongenital tufting enteropathyFunctional characterization of Spint2 in intestinal morphogenesis – Physiopathological repercussions in the pathogenesis of CTE
2013Claire FRANCASTELParisFondation Maladies RaresImmunodeficiency, centromeric region instability, facial anomalies syndrome Creation and epigenetic/phenotypic characterization of a mouse model for the ICF type II syndrome
2013Fiona FRANCISParisFondation Maladies RaresHeterotopiaMolecular and cellular causes, and physiopathology of heterotopia
2013Laurent GOUYAParisFondation Maladies RaresErythropoietic protoporphyriaAntisense oligonucleotide therapeutic strategy in EPP: Development of a humanized mouse model.
2013Thierry LEVEILLARDParisFondation Maladies RaresRetinitis pigmentosaInactivation of the thioredoxin-like protein RdCVFL encoded by the Nucleoredoxin-like71 gene: RdCVFL7-7 mouse
2013Frederic SAUDOUOrsayFondation Maladies RaresHuntington diseaseHuntington’s disease: modelling huntingtin proteolysis in mouse (proteo-htt)
2013Alain HOVNANIANParisFondation Maladies RaresNetherton syndromeDevelopment of a murine model overexpressing human Kallikrein 14 in the context of Netherton syndrome
2013Jean-Jacques MERCADIERChatenay-MalabryFondation Maladies RaresCatecholaminergic polymorphic ventricular tachycardiaAdvances in the understanding and treatment of Catecholamine Polymorphic Ventricular Tachycardia (CPVT)
2013Rima NABBOUTParisFondation Maladies RaresMalignant migrating partial seizures of infancyKI Mouse model for Migrating partial seizures in infancy
2013Alain LILIENBAUMParisFondation Maladies RaresDesminopathyA mouse model for desmin-related myopathies
2013Luc DUPUISStrasbourgFondation Maladies RaresAmyotrophic lateral sclerosisGeneration of an inducible model of amyotrophic lateral sclerosis through conditional truncation of fus/als
2013Sabine BAILLYGrenobleFondation Maladies RaresHereditary hemorrhagic telangiectasiaBMP10 in HHT disease
2013Antoine MARTINEZClermontFondation Maladies RaresCarney complexPathogenic potential of R1α truncated mutants found in severe forms of Carney complex
2013Marie-Christine CHABOISSIERNiceFondation Maladies RaresDisorders of sex developmentAnalysis of R-spondin1 functions in transdifferentiation and maintenance of the ovary
2013Michaël SEBBAGHMarseilleFondation Maladies RaresPeutz-Jeghers syndromeSTRAD beta involvement in Peutz-Jeghers syndrome
2013Michael MITCHELLMarseilleFondation Maladies RaresPartial chromosome Y deletionRole of the homologue of a human oligozoospermia factor gene, during mouse spermatogenesis
2013Hamid-Reza REZVANIBordeauxFondation Maladies RaresXeroderma pigmentosum complementation group CRole of NADPH oxidase 1 in Xeroderma pigmentosum C
2014Thomas FALGUIÈRESParisFondation Maladies RaresRare hepatobiliary diseasesIdentification of targeting correctors of ABCB4/MDR3 defective mutants by a high throughput screening approach
2014Irene CEBALLOS-PICOTParisFondation Maladies RaresLesch-Nyhan DiseaseIdentify molecules able to induce HPRT-like activity in HPRT-deficient fibroblasts and dopaminergic neuronal cells as models for Lesch-Nyhan Disease
2014Delphine MEYNARDToulouseFondation Maladies RaresNon-transfusion-dependent thalassemiaMatriptase-2: identification of pharmacological inhibitors to decrease iron overload in non-transfusion-dependent thalassemia
2014Olfa KHALFALLAHNiceFondation Maladies RaresFragile X syndromeSearch for active molecules on a cell model for Fragile X Syndrome by high throughput screening
2014Hanna DEBIEC ParisFondation Maladies RaresMembranous nephropathySearching for C5b-9 antagonists by high-throughput screening of chemical libraries: Toward new treatment of membranous nephropathy
2014Herve DEVILLIERSDijonFondation Maladies RaresSystemic lupus erythematosus / Systemic sclerosis / Inflammatory myopathyImpact of autoimmune disease on quality of life: a qualitative study
2014Alexandre EUSEBIOMarseilleFondation Maladies RaresProgressive supranuclear palsyQuality of life and caregiver burden in progressive supranuclear palsy
2014Pascal ANTOINEVilleneuve d'AscqFondation Maladies RaresHolt-Oram syndrome (HOS) – Nail Patella syndrome (NPS) – Rendu Osler disease (ROD)Impact of three rare genetic diseases: comparative and exploratory psychosocial research
2014Drina CANDILIS HUISMANParisFondation Maladies RaresRare diseases with movement disordersChildbirth and parenthood in women with motor disability related to rare diseases
2014Damien LEGERParisFondation Maladies RaresRare hypersomniaProfessional career path in patients with rare hypersomnias
2014Laurence FAIVRE-OLIVIERDijonFondation Maladies RaresDevelopmental anomaliesPreferences 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.
2014Philippe CHARRONParisFondation Maladies RaresHereditary cardiac diseasesPredictive genetic testing in hereditary cardiac diseases:
Evaluation of psycho-social impact and multidisciplinary management
2014Sonia ABDELHAKTunisFondation Maladies RaresConsanguinity and hereditary rare diseaseConsanguinity and hereditary rare diseases : challenges and perspectives in post genomics
2014Veronique PAQUIS-FLUCKINGERNiceFondation Maladies RaresMitochondrial diseasesEarly-onset neuromuscular presentations of mitochondrial disorders: identification of new genes by exome sequencing
2014Florent SOUBRIERParisFondation Maladies RaresIgA nephropathy (Berger’s disease)Exome sequencing in two large pedigrees with multiple cases of IgA nephropathy
2014Jean-Louis MANDELIllkirchFondation Maladies RaresIntellectual disability/autismExome sequencing of patients with intellectual disability and no mutation identified in known genes
2014Patrick CALLIERDijonFondation Maladies RaresFrontonasal dysplasiaGenetic basis of frontonasal dysplasia
2014Sandrine VUILLAUMIERParisFondation Maladies RaresGlut1 deficiencyIdentification of a gene underlying dominant epilepsy in a slc2a1/glut1 negative family (trio analysis)
2014Pascale GUICHENEYParisFondation Maladies RaresIdiopathic ventricular fibrillation with short-coupled variant of torsade de pointesIdentification of a new gene causing idiopathic ventricular fibrillation with short-coupled variant of torsade de pointes
2014Karine POIRIERParisFondation Maladies RaresMicrolissencephalyIdentification of new genes involved in microlissencephaly
2014Patrick REVYParisFondation Maladies RaresSevere bone marrow failure, dyskeratosis congenita, Hoyeraal-Hreidarsson syndromeIdentification of new genes involved in severe bone marrow failure associated with telomere and/or dna repair defects
2014Valerie CORMIER-DAIREParisFondation Maladies RaresEllis-Van Creveld syndromeIdentification of the molecular basis of the Ellis-Van Creveld (EVC) syndrome
2014Sophie NICOLEParisFondation Maladies RaresPeriodic paralysisSearch for a new gene responsible for periodic paralysis by whole exome analysis of one family and sporadic cases
2014Marion GERARDCaenFondation Maladies RaresSirenomelia / mermaid syndromeWhole-exome sequencing to identify genetic alterations associated with Sirenomelia (ADEP project)
2014Valerie DELAGUEMarseilleFondation Maladies RaresCharcot-Marie-Tooth diseaseIdentification of novel genes in Charcot-Marie-Tooth disease in lebanese consanguineous families, through homozygous by descent analysis of whole genome sequence data
2014Nadia BAHI-BUISSONParisFondation Maladies RaresAicardi syndromeIdentification of the genetic bases of Aicardi syndrome
2014Damien SANLAVILLELyonFondation Maladies RaresIntellectual disability / congenital malformationsStudy of 9 complex chromosomal rearrangements by massively parallel sequencing: an unifying mechanism ?
2014Giovanni STEVANINParisFondation Maladies RaresHereditary spastic paraplegiaWhole genome sequencing in 5 families with hereditary spastic paraplegia
2014Nadia BAHI-BUISSONParisFondation Maladies RaresCortical Malformations and 22q11.2 deletion syndromeDelineation of the molecular basis of cortical malformation in 22q11.2 deletion syndrome
2014Eric BIETHToulouseFondation Maladies RaresCongenital bilateral absence of the vas deferens (CBAVD)Search for new genetic determinants of male infertility due to congenital bilateral absence of the vas deferens
2014Francis COUTURAUDBrestFondation Maladies RaresIdiopathic venous thromboembolismidentification of new inherited thrombophilia in selected families
2014Christel DEPIENNEParisFondation Maladies Raresautism-epilepsyIdentification of novel genes responsible for autism-epilepsy phenotypes
2014Jamal GHOUMIDLilleFondation Maladies RaresBlepharo-cheilo-dontic (BCD) syndromeMolecular characterization of blepharocheilodontic (BCD) syndrome through exome sequencing in 5 families
2014Gaëlle HARDYGrenobleFondation Maladies RaresHereditary bradykinin-mediated angioedemaNews genes involved in bradykinin-mediated angioedema with reduced C1-inhibitor function and no mutation in SERPING1 or F12 genes
2014Carine LE GOFFParisFondation Maladies RaresFloating Harbor syndromeIdentification of a new gene involved in Floating Harbor syndrome
2014Aude MAGERUS-CHATINETParisFondation Maladies RaresAutoimmune lymphoproliferative syndrome (ALPS)Search for modifier genes in ALPS-Fas
2014Gaël MANESMontpellierFondation Maladies RaresAutosomal dominant retinitis pigmentosaIdentification of novel genes in autosomal dominant Retinitis Pigmentosa in 21 fully screened families for known genes
2014Rolando MELONIParisFondation Maladies Raresfamilial form of bipolar disorderResearch of a major gene for familial form of bipolar disorder in an extended pedigree with an ascertained founder effect.
2014Sebastien MOUTTONBordeauxFondation Maladies RaresOEIS (omphalocele – exstrophy of bladder – imerforate anus – spinal defects) complexIdentification of the molecular bases of OEIS complex in a multiplex family
2014Irene NETCHINEParisFondation Maladies RaresRussell-Silver SyndromeIdentifying new genes responsible for autosomal inheritance of Russell-Silver syndrome
2014Michel POLAKParisFondation Maladies RaresCongenital hypothyroidismIdentification of new genes involved in brain-lung-thyroid syndrome
2014Reiner VEITIAParisFondation Maladies RaresPrimary Ovarian InsufficiencyGenetics and Genomics of primary ovarian insufficiency: an entry point to understand ovarian function
2014Vincent BERINGUEJouy-en-JosasFondation Maladies RaresPrion diseasesZebrafish model of prion disease
2014Nicolas CHARLET-BERGUERANDIllkirchFondation Maladies RaresAmyotrophic lateral sclerosis & frontotemporal dementiaA rat model of amyotrophic lateral sclerosis & frontotemporal dementia
2014Kathrin GIESELERVilleurbanneFondation Maladies RaresMuscular dystrophiesDevelopment of C. elegans models for human muscular dystrophies
2014Jamile HAZANParisFondation Maladies RaresHereditary Spastic Paraplegia (HSP)Dangerous liaisons: the link between spastin, atlastin and BMP signaling in the pathogenesis of hereditary spastic paraplegia
2014Yann HERAULTIllkirchFondation Maladies Rares16p11.2 microdeletion syndromeA rat model for the 16p11.2 microdeletion syndrome to better understand and treat the cognitive and metabolic disorders induced in human
2014Jocelyn LAPORTEIllkirchFondation Maladies RaresCongenital myopathies and dystrophies, limb girdle muscular dystrophiesValidation and pathophysiological characterization of novel genes for myopathies (MYO-fish)
2014Olivier LOREALRennesFondation Maladies RaresHereditary aceruloplasminemiaHereditary aceruloplasminemia : mechanisms involved in the expression of the disease and development of new therapeutic approaches.
2014Gregoire MICHAUXRennesFondation Maladies RaresMicrovillus inclusion diseaseTowards a model for rare intestinal absorption diseases in c. elegans
2014Arnaud MONTEILMontpellierFondation Maladies RaresInfantile neuroaxonal dystrophy (INAD)Modeling infantile neuroaxonal dystrophy, a nalcn channel-related disorder, in zebrafish
2014Veronique MORELLyonFondation Maladies RaresEmery 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
2014Sophie NICOLEParisFondation Maladies RaresMuscle channelopathies, congenital myasthenic syndromsNeuromuscular excitability disorders in zebrafish : progressive muscle weakness in periodic paralysis and congenital myasthenia.
2014Frederic PERROSLe Plessis RobinsonFondation Maladies RaresPulmonary arterial hypertensionRole of KCNK3 in the pathogenesis of pulmonary arterial hypertension
2014Thomas PIETRIParisFondation Maladies RaresRett syndromCharacterization of a zebrafish model of Rett syndrome
2014Isabelle RICHARDEvryFondation Maladies RaresLimb-girdle muscular dystrophy type 2ARat model for calpainopathies
2014Dimitrios SKOUFIASGrenobleFondation Maladies RaresMicrocephaly-Lymphedema-Chorioretinal Dysplasia human rare syndromeGeneration of a zebrafish model to study KIF11 motor protein mutations associated with the human MLDRC rare syndrome
2014Herve TRICOIREParisFondation Maladies RaresFriedreich ataxiaGeneration of new endogenous drosophila models of trinucleotide repeat expansion diseases
2014Yvon TROTTIERIllkirchFondation Maladies RaresSpinoCerebellar Ataxia 7 (SCA7)A zebrafish model of SCA7 for physiopathological analyses and drug evaluation
2014Marie-Anne COLLENantesFondation Maladies RaresPompe 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
2014Philippe MOULLIERNantesFondation Maladies RaresDuchenne muscular dystrophySystemic injection in the GRMD dog of a recombinant AAV vector encoding for the µdystrophin: efficiency and global safety
2014Sibylle OPSAHL-VITALMontrougeFondation Maladies RaresX-linked hypophosophatemic ricketsDevelopment of a bioengineering treatment for the necrotic pulp of patients with familial rickets: preclinical approach in the mini-pig
2014Pierre-Louis THARAUXParisFondation Maladies RaresRapidly progressive glomerulonephritis (RPGN)Treatment of rapidly progressive glomerulonephritis by powerful inhibitors of HB-EGF and miRNA92a pathway in pig
2015Johann BOHMIllkirchFondation Maladies RaresTubular aggregate myopathy and Stormorken syndromeFirst mammalian model for tubular aggregate myopathy and
Stormorken syndrome
2015Pascale BOMONTMontpellierFondation Maladies RaresGiant axonal neuropathyDevelopment of an In vivo model for Giant Axonal Neuropathy
2015Jamel CHELLYIllkirchFondation Maladies RaresMalformations of Cortical Development - Periventricular Nodular Heterotopia (PVNH)Understanding NEDD4L-related MCD (Malformations of Cortical Development) through investigations of a Knock-In mouse model
2015Helene DOLLFUSStrasbourgFondation Maladies RaresCiliopathy-like phenotype associating kidney alteration and retinal degenerationMouse modeling of a missense mutation in the essentiel gene PIK3R4 (VPS15) responsible for a ciliopathy-like disease
2015Julie DUMONCEAUXParisFondation Maladies RaresFacioScapuloHumeral Dystrophy (FSHD)FacioScapuloHumeral Dystrophy (FSHD): targeting two alternative Fat1 exons with one mouse
2015Christian HAMELMontpellierFondation Maladies RaresVitelliform macular dystrophies (VMD)Impg1 gene Knock-Out, a mouse model for human vitelliform macular dystrophy and retinitis pigmentosa
2015Alain HOVNANIANParisFondation Maladies RaresRecessive Dystrophic Epidermolysis BullosaGeneration of a humanized mouse model for Recessive Dystrophic Epidermolysis Bullosa harbouring a recurrent COL7A1 mutation
2015Sebastien LACROIX-DESMAZESParisFondation Maladies RaresHemophilia AGeneration of a novel mouse model of hemophilia A constituted of mice transgenic for a human T cell receptor specific for therapeutic factor VIII
2015Carine LE GOFFParisFondation Maladies RaresMyhre syndrome (MS)SMAD4 and Myhre syndrome
2015Delphine MEYNARDToulouseFondation Maladies RaresIron Refractory Iron Deficiency Anemia (IRIDA)Is matriptase-2 involved in iron homeostasis regulation and anemia exclusively through the hepatocytes?
2015Veronique PAQUIS-FLUCKINGERNiceFondation Maladies RaresMotor neuron disease and ataxiaCHCHD10S59L mouse model: how mitochondrial dysfunction promotes motor neuron disease?
2015Frederique RENEStrasbourgFondation Maladies RaresAmyotrophic Lateral Sclerosis (ALS)Generation of an ALS-FTD mouse model based on a conditional CHMP2B intron 5 mutant Knock-In
2015Frederic RIEUX-LAUCATParisFondation Maladies RaresPrimary immunodeficiency with autoimmunityRole of LRBA in the control of the immune response: implication in primary immunodeficiencies
2015Pascale BOMONTMontpellierFondation Maladies RaresGiant Axonal Neuropathy (GAN)Reversing motor deficits in GIant Axonal Neuropathy
2015Vincent GACHELyonFondation Maladies RaresCentronuclear Myopathies (CNM)Rescue myonuclear domains establishment in centronuclear myopathies with chemical compounds
2015Yvon TROTTIERStrasbourgFondation Maladies RaresHuntington’s diseaseHigh Throughput screening for the identification of amyloid aggregation modulators in Huntington’s disease
2015Sophie ARBORIOVillers les NancyFondation Maladies RaresWest syndrome, severe epilepsies West Syndrom: construction of knowledge and experiences of singularity families
2015Michel CASTRALilleFondation Maladies RaresCystic 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.).
2015Dominique FARGEParisFondation Maladies RaresSystemic sclerosis, LupusEstablishment of a collaborative e-platform to identify and characterize the handicaps of patients with rare autoimmune diseases within the cell therapy or biotherapy
2015Anne MARCELLINIMontpellierFondation Maladies RaresDown syndrome, 22q11 deletion, Williams-Beuren syndrome Becoming an adult with development anomalies : obstacles and facilitators
2015Gregoire MERCIERMontpellierFondation Maladies RaresLymphedemaThe LYMPHO-RAC study: analyzing out-of-pocket payments of primary lymphedema patients in France
2015Remy POTIERParisFondation Maladies RaresUsher, Wolfram and Stickler syndromes Psychosocial determinants of deafblindness handicap on autonomy within the life path of people affected with Usher, Wolfram and Stickler syndromes
2015Sophie QUINTONLilleFondation Maladies RaresSystemic sclerosisScleroderma and occupational difficulties: identify to better help
2015Pauline ARNAUDParisFondation Maladies RaresMarfan 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)
2015Isabelle AUDOParisFondation Maladies RaresRetinitis pigmentosa (RP)Gene defect identification in X-linked retinitis pigmentosa cases excluded for currently known gene defects
2015Nadia BAHI-BUISSONParisFondation Maladies RaresPeriventricular Nodular HeterotopiaInvestigating novel modular basis for Periventricular Nodular Heterotopia
2015Stephanie BAULACParisFondation Maladies RaresEpilepsiesIdentification of new genes for autosomal dominant focal epilepsies
2015Patrick CALLIERDijonFondation Maladies RaresPai syndromeIdentification of the gene for Pai syndrome through Whole Genome Sequencing
2015Vincent CANTAGRELParisFondation Maladies RaresCerebellar atrophy associated with intellectual disabilityGenetic basis of childhood-onset cerebellar atrophy associated with intellectual disability
2015Nadia CERF-BENSUSSANParisFondation Maladies RaresEarly onset inflammatory intestinal diseasesDetermination of mendelian causes of intestinal inflammation
2015Nicolas CHASSAINGToulouseFondation Maladies RaresAnophthalmia - microphthalmiaAnalysis of regulatory elements sequences in microphthalmia/anophthalmia
2015Jamel CHELLYStrasbourgFondation Maladies RaresFocal cortical dysplasia - EpilepsyGenetics of Focal Cortical Dysplasias
2015Alexandre FABREMarseilleFondation Maladies RaresSyndromic diarrhea/tricho-hepato-enteric syndromIdentification of new genes associated with syndromic diarrhea/ tricho-hepato-enteric syndrom
2015Sylvain LATOURParisFondation Maladies RaresRare primary immunodeficienciesMolecular identification of novels forms of inherited lymphoproliferation syndromes associated with a susceptibility to EBV infection
2015Valerie MALANParisFondation Maladies RaresIntellectual disability and congenital malformationsUnmasking of a recessive mutation: what role in the incomplete penetrance of CNVs
2015Sandrine MARLINParisFondation Maladies RaresCochlear nerve AplasiaIdentification of the molecular basis of cochlear nerve aplasia
2015Sophie NAUDIONBordeauxFondation Maladies RaresA 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
2015Veronique PAQUIS-FLUCKINGERNiceFondation Maladies RaresMitochondrial diseasesIdentification of new genes responsible for mitochondrial disorders by exome sequencing
2015Nathalie ROUX-BUISSONGrenobleFondation Maladies RaresExertional 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
2015Stephane VIVILLEStrasbourgFondation Maladies RaresInfertilityGenetics of male infertility: genes implicated in non-obstructive azoospermia
2015Christina ZEITZParisFondation Maladies RaresRetinitis pigmentosa (RP)Identification of novel gene defects underlying retinitis pigmentosa in France by whole exome sequencing
2015Marie-Christine ALESSIMarseilleFondation Maladies RaresPlatelet dysfunctionIdentification of new genes involved in platelet dysfunction
2015Christine BELLANNÉ-CHANTELOTParisFondation Maladies RaresCongenital neutropeniaIdentification of new genes in congenital neutropenia
2015Alain CALENDERLyonFondation Maladies RaresSarcoidosis (Besnier-Boeck-Schaumann disease)Identification of genes involved in familial forms of sarcoidosis
2015Pascale de LONLAYParisFondation Maladies RaresRhabdomyolysis and Reye syndromeIdentification of the gene(s) responsible for recessive rhabdomyolysis and Reye syndrome in 3 patients from 2 families presenting the same phenotype
2015Muriel GIRARDParisFondation Maladies RaresBiliary atresiaIdentification of a common signaling pathway involved in biliary atresia
2015Celine HUBERParisFondation Maladies RaresAsphyxiating Thoracic Dysplasia or Jeune syndromeIdentification of the molecular basis of the Asphyxiating Thoracic Dysplasia
2015Vincent LAUGELStrasbourgFondation Maladies RaresCockayne syndromeInvestigating novel molecular basis for Cockayne syndrome
2015Caroline MICHOTParisFondation Maladies RaresMicrocephalic osteodysplastic primordial dwarfismsDissection of molecular bases of microcephalic osteodysplastic primordial dwarfisms: identification of new genes in pre-screened patients
2015Veronique PAQUIS-FLUCKLINGERNiceFondation Maladies RaresMitochondrial diseasesProgressive external ophtalmoplegia with multiple mitochondrial DNA deletions: identification of new genes
2015Laurent PASQUIERRennesFondation Maladies RaresRhombencephalosynapsisIdentification of a gene involved in rhombencephalosynapsis
2015Megana PRASADStrasbourgFondation Maladies RaresBardet-Biedl and Bardet-Biedl-like syndromesIdentification of novel genes underlying Bardet-Biedl and Bardet-Biedl-like syndromes
2015Pierre RAYGrenobleFondation Maladies RaresNon-obstructive azoospermiaIdentification of genetic causes of human non-obstructive azoospermia
BordeauxFondation Maladies RaresRight ventricular hypoplasiaIdentification of a gene involved in familial right ventricular hypoplasia
2015Agnes RÖTIGParisFondation Maladies RaresMitochondrial disease with neurological involvementIdentification of nuclear genes responsible of abnormal respiratory chain assembly
2016Helene AMIEVABordeauxFondation Maladies RaresFronto-Temporal Lobar DegenerationsPersonalized and
multidisciplinary care on behavioral disorders of Fronto-Temporal Lobar Degenerations
2016Delphine DELLACHERIELilleFondation Maladies RaresDevelopmental anomalies and malformation syndromesDance as a new tool for remediation in rare
cerebellar developmental pathologies
2016Caroline DESOMBRELilleFondation Maladies RaresRare non-malignant hematological diseasesHow to restore equality of opportunity for students with hemophilia?
2016Genevieve BAUJATParisFondation Maladies RaresKlippel Feil syndromeMolecular basis dissection of isolated Klippel Feil syndrome: identification of new genes
2016Stephane BÉZIEAUNantesFondation Maladies RaresSyndromic and non-syndromic severe intellectual disability (IQ<50)Trio-based whole-genome sequencing of patients with syndromic and non-syndromic severe intellectual disability
2016Celia CRÉTOLLEParisFondation Maladies RaresCurrarino 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
2016Yanick CROWParisFondation Maladies RaresAicardi-Goutieres syndrome
Type I interferonopathies
Familial chilblain lupus
Whole genome sequencing in Aicardi-Goutieres syndrome and related type I interferonopathies
2016Albertina DE SARIOMontpellierFondation Maladies RaresCystic FibrosisDNA methylation and pulmonary disease in cystic fibrosis patients
2016Christel DEPIENNEStrasbourgFondation Maladies RaresFamilial cortical myoclonic tremor and epilepsy (FCMTE)Identification of the unconventional genetic basis for familial cortical myoclonic tremor and epilepsy
2016Pascale GUICHENEYParisFondation Maladies RaresLong QT syndrome (LQTS)
Catecholergic polymorphic ventricular tachycardia (CPVT)
Elucidation of the molecular variants responsible for sudden cardiac death in two large families
2016Alice HADCHOUELParisFondation Maladies RaresPulmonary alveolar proteinosisIdentification of a new gene in a familial form of pulmonary alveolar proteinosis
2016Guy LENAERSAngersFondation Maladies RaresMitochondrial Inherited Optic Neuropathies
Dominant Optic Atrophy
Kjer disease
Genetic analysis of dominant optic atrophy
2016Caroline MICHOTParisFondation Maladies RaresCornelia de Lange syndromeDissection of molecular bases of Cornelia de Lange syndrome: identification of new genes in pre-screened patients
2016Jean MULLERStrasbourgFondation Maladies RaresBardet-Biedl SyndromeIdentification of novel genes underlying Bardet-Biedl Syndrome using Next Generation Sequencing
2016Christian PINSETParisFondation Maladies RaresDuchenne 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
2016Amelie PITONStrasbourgFondation Maladies Raresintellectual disability
Evaluation of RNA-sequencing strategies to better diagnose intellectual disability
2016Angela TINGAUD-SEQUEIRABordeauxFondation Maladies RaresGoldenhar syndrome
Oculo-auriculo-vertebral spectrum
Exome sequencing to find new candidate genes involved in Goldenhar Syndrome and Oculo-Auriculo-Vertebral Spectrum
2016Sandrine VUILLAUMIER-BARROTParisFondation Maladies RaresCDG syndrome, glycosylation defect, coagulation defectIdentification of a gene underlying same coagulation factors abnormalities and CDG II profile in two unrelated family with anticipated dominant transmission.
2016Valerie DESQUIRET-DUMASAngersFondation Maladies RaresMitochondrial complex I deficiencyScreening of pharmacological molecules to restore oxidative metabolism in rare diseases associated to mitochondrial complex I mutations.
2016Michel FONTESMarseilleFondation Maladies RaresX-linked Charcot-Marie-Tooth disorder (CMTX)HTS screening to identify molecules correcting connexon activity in CMTX disorder.
2016Sylvie FOURNEL-GIGLEUXNancyFondation Maladies RaresMucopolysaccharidosesSearch for inhibitors of the galactosyltransferase β4GalT7 by High Throughput Screening : towards a specific substrate reduction therapy in mucopolysaccharidoses
2016Mathieu RODEROParisFondation Maladies RaresSTING-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.
2016Benjamin DEHAYBordeauxFondation Maladies RaresKufor-Rakeb Syndrome
Neuronal Ceroid Lipofuscinosis
2016Bruno DELLA GASPERAParisFondation Maladies RaresSpinal 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)
2016Laurence LEGEAI-MALLETParisFondation Maladies RaresFGFR3-related osteochondrodysplasias (chondrodysplasias and craniosynostoses)ZEBRAFISH MODEL OF FGFR3-RELATED SKELETAL DISORDERS
2016Brigitte LELONGTParisFondation Maladies RaresNephronophtisisIMPACT OF ANKS3 HUMAN MUTATION IN RAT MODEL
2016Gilles MILLATLyonFondation Maladies RaresEndocardial Fibroelastosis
Dilated Cardiomyopathy
2016Christophe SIRACLimogesFondation Maladies RaresAL amyloidosisEESTABLISHMENT OF A RAT MODEL FOR AL AMYLOIDOSIS
2016Marie-Christine ALESSIMarseilleFondation Maladies RaresETV6-related thrombocytopeniaUNRAVELING MOLECULAR MECHANISMS OF ETV6-RELATED THROMBOCYTOPENIA
2016Louise BENARROCHParisFondation Maladies RaresMarfan syndrome
Familial Thoracic Aortic Aneurysm and Dissection
2016Alexandre FABREMarseilleFondation Maladies RaresWaldmann's disease or Primary intestinal lymphangiectasiaGENETIC BASES OF PRIMARY INTESTINAL LYMPHANGIECTASIA
2016Jocelyn LAPORTEStrasbourgFondation Maladies RaresMuscular dystrophy
Congenital myopathy
2016Roland LIBLAUToulouseFondation Maladies RaresNarcolepsy with cataplexyHUMAN IMMUNE SIGNATURES OF NARCOLEPSY WITH CATAPLEXY
2017Brahim BELBELLAAIllkirchFondation Maladies RaresFreidreich Ataxia associated cardiomyopathyMultisystem approach analysis of friedreich ataxia cardiomyopathy in frataxin deficient mice models and hIPS-derived cardiomyocytes for the elucidation of pathophysiological mechanisms and identification biomarkers.
2017Virginie CARMIGNACDijonFondation Maladies RaresCLOVES: 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
2017Martine COHEN-SALMONParisFondation Maladies RaresMegalencephalic leukoencephalopathy with subcortical cystsDeciphering the gliovascular functions of MLC1 underlying megalencephalic leukoencephalopathy
2017Genevieve de SAINT BASILEParisFondation Maladies RaresX-Linked thrombocytopenia, Woodhouse Sakatti, IgA nephropathy, Severe Immune disorder, VasculopathyGenetic basis of various phenotypes segregating in a large inbred family
2017Claire FRANCASTELParisFondation Maladies RaresICF syndrome: Immunodeficiency Centromeric instability Facial anomaliesGenOmics of the ICF syndrome: when studying a rare disease also sheds new light on the “old” field of DNA methylation
2017Cecile JEANPIERREParisFondation Maladies RaresCongenital anomalies of the kidney and urinary tract (CAKUT)
Renal hypodysplasia (RHD)
Identification of novel genes and mutational mechanisms for renal hypodysplasia
2017Sandrine MARLINParisFondation Maladies RaresNon syndromic hearing impairment with enlarged vestibular aqueductsIdentification of the second gene responsible for isolated hearing impairment with enlarged vestibular aqueducts
2017Caroline NAVAParisFondation Maladies RaresEpilepsy
Dravet syndrome
Identification of novel genes responsible for Dravet syndrome
2017Veronique PAQUIS-FLUCKLINGERNiceFondation Maladies RaresMitochondrial disordersIdentification of new genes and possible de novo mutations in early-onset mitochondrial disorders
2017Veronique PINGAULTParisFondation Maladies RaresWaardenburg syndrome type 2Molecular bases of Waardenburg syndrome type 2
2017Stephane SavaryDijonFondation Maladies RaresX-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
2017Capucine TROLLETParisFondation Maladies RaresOculopharyngeal muscular dystrophyLong and small non coding RNA in oculopharyngeal muscular dystrophy
2017François VIALARDParisFondation Maladies RaresAzoospermiaIdentification and characterization of gene alterations in patients with a spermatogenesis maturation arrest
2017Stephane VIVILLEStrasbourgFondation Maladies RaresSpontaneous ovarian hyperstimulation syndrome (sOHSS)Exome sequencing in a consanguineous family with spontaneous ovarian hyperstimulation cases with unknown triggers
2017Jean-Vianney BARNIERParisFondation Maladies RaresIntellectual disabilityFirst mutation in the auto-inhibitory domain of the PAK3 gene associated to ID.
2017Jean-Jacques BOFFAParisFondation Maladies RaresIdiopathic nephrotic syndromePathophysiological role of Isthmin-1 in idiopathic nephrotic syndrome
2017Anne DEBANTMontpellierFondation Maladies Raresneurodevelopmental 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
2017Juliette GODINIllkirchFondation Maladies RaresMalformation of cortical development - microcephaly - intellectual disabilitiesUnderstanding the roles of tRNAs modifications in cerebral corticogenesis through the investigation of an ADAT3 knock-in model
2017Denis HERVEParisFondation Maladies RaresADCY5-related dyskinesiaA mouse model for studying pathophysiological mechanisms of ADCY5-related dyskinesia
2017Pascal HOUILLIERParisFondation Maladies RaresFamilial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis (FHHNC)A Claudin 16-knock-in mouse as a model of Familial hypomagnesemia with hypercalciuria and nephrocalcinosis
2017Metodi METODIEVParisFondation Maladies Raresmitochondrial 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.
2017Benoit MIOTTOParisFondation Maladies RaresMeier-Gorlin SyndromeStudy of a mouse model of Meier-Gorlin Syndrome based on a mutation in the conserved BAH domain of ORC1
2017Stephane NEDELECParisFondation Maladies RaresSpinal muscular atrophy, lower extremity-predominant, 2, AD
Development and characterization of preclinical Human and Mouse models of Spinal Muscular Atrophy to determine the mechanisms of selective motor neuron impairments
2017Miria RICCHETTIParisFondation Maladies RaresCockayne syndromeA mouse model for Cockayne syndrome
2017Laurent SCHAEFFERLyonFondation Maladies RaresNeuromuscular disorders affecting the neuromuscular junctionLight up the neuromuscular junction to monitor muscle innervation
2017Jacques YOUNGParisFondation Maladies RaresSevere hyperandrogenism and oligomenorrheaKI mouse model as a proof of concept for human hyperandrogenism, anovulation associated with activating LHCGR mutation
2017Pierre ANCETDijonFondation Maladies RaresCongenital Giant NaevusStudy Congenital Giant Naevus: Psychology, Info-Com, Health, Transdisciplinary, Ethics
2017Lionel DANYMarseilleFondation Maladies RaresSystemic lupus erythematosusPsychosocial consequences of systemic lupus erythematosus: a study of patients and their spouses
2017Agnes DUMASParisFondation Maladies RaresCongenital adrenal hyperplasia, Isolated anorectal malformations or syndromic, Crohn's disease, Juvenile idiopathic arthritis, MucoviscidosisTransition Platforms: Understanding the Expectations of Parents of Young People with Rare Diseases
2017Stephanie MAZZALyonFondation Maladies RaresNarcolepsy type 1Study of the academic and professional path of narcoleptic patients
2017Maria POPA-ROCHStrasbourgFondation Maladies RaresEhlers-Danlos syndrome,
Ondine syndrome
Juvenile arthritis
Rare Invisible Disease and Schooling of Children
2017Virginie POSTALBordeauxFondation Maladies RaresPrader Willi syndromeCommunication in Prader-Willi syndrome: study of emotional control related to behavioural disorders, their daily repercussions and examination of innovative therapies
2017Sebastien RUFFIEPointe-à-PitreFondation Maladies RaresSickle cell diseaseSickle cell disease, neurocognitive disorders and social participation
2017Arturo LONDONO-VALLEJOParisFondation Maladies RaresHoyeraal-Hreidarsson syndrome
Primary pulmonary fibrosis
Dyskeratosis congenita
RNA partitioning in RTEL1-associated Hoyeraal-Hreidarsson syndrome
2017Pascale QUIGNONRennesFondation Maladies RaresEpilespyWhole genome sequencing of dogs affected by idiopathic epilepsy as genetic models for human epilepsies
2017SANDRINE PASSEMARDParisFondation Maladies RaresPrimary microcephalies:
MicroCephaly Primary Hereditary, microcephalic dwarfism (Seckel syndrome / MOPD / Meyer Gorlin syndrome), microcephaly and chorioretinopathy
MICRO-WGS: Identifying genes responsible for primary microcephaly
2017Arthur SORLINDijonFondation Maladies RaresHypomelanosis of Ito, Linear Whorled Nevoid Hypermelanosis, and other mosaic development disorders with skin pigmentary anomaliesDeciphering the genetic basis of mosaic development disorders with skin pigmentary anomalies
2017Gaetan LESCALyonFondation Maladies RaresEpilepsy
West syndrome
Searching for the genetic basis of West syndrome with favorable outcome
2017Pauline ARNAUDParisFondation Maladies RaresMarfan 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
2017Betty GARDIENantesFondation Maladies RaresHereditary erythrocytoses (HE)Whole genome sequencing of patients with hereditary erythrocytosis
2017Nicolas RAMOZParisFondation Maladies RaresAnorexia nervosa dominant form, eating disorders, psychiatric disordersCOMBINING HIGH THROUGHPUT SEQUENCING APPROACHES TO DEFINE THE GENETIC BASES OF DOMINANT FAMILIAL FORMS OF ANOREXIA NERVOSA
2017Alexandre BACQParisFondation Maladies RaresEpilepsyIdentification of novel pathogenic mechanisms involved in DEPDC5-related epilepsy and SUDEP.
2017Jean MULLERStrasbourgFondation Maladies RaresBardet-Biedl syndrome
Identification of genes and pathways implicated in families affected with a ciliopathy.
2017Veronique PAQUIS-FLUCKLINGERNiceFondation Maladies RaresMitochondrial diseasesIdentification of new genes responsible of mitochondrial disorders by RNA sequencing
2017Jean-Jacques FEIGEGrenobleFondation Maladies RaresHHT: Hereditary Haemorrhagic Telangiectasia (Rendu-Osler-Weber disease)
PAH: Pulmonary Arterial Hypertension
HHTreat: new drugs for the treatment of HHT patients
2017Johann BOHMIllkirchFondation Maladies RaresTubular aggregate myopathy (TAM)A high-throughput screen to identify compounds antagonizing tubular aggregate myopathy
2017Marie-Odile FAUVARQUE MARRASGrenobleFondation Maladies RaresCushing's diseaseTargeting USP8 in Cushing's disease
2017Dominique BONNEAUAngersFondation Maladies RaresRare Intellectual disabilitiesOmics for Improving the Diagnosis of Rare Intellectual Disabilities
2017Jean-Baptiste GOURRAUDNantesFondation Maladies Rareslong QT syndrome, idiopathic ventricular fibrillationCIQTP prolongation : role and mechanism in sudden cardiac death
2017Laurent PLANTIERToursFondation Maladies RaresIdiopathic Pulmonary FibrosisAcoustic Waves and Helium/oxygen for Aerosol Treatment of Idiopathic Pulmonary Fibrosis (IPF)
2018Caroline LE GUINERNantesFondation Maladies RaresDuchenne Muscular DystrophyGene 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
2018Laurent STORMELilleFondation Maladies RaresCongenital diaphragmatic herniaOptimization of intact cord resuscitation in newborn lambs with congenital diaphragmatic hernia
2018Gabriel RAHMIParisFondation Maladies RaresEsophageal atresia
Anastomotic fistulas
Fistula therapy by extracellular vesicles into thermoreversible hydrogels: tackling a complication of oesophageal atresia reparative surgery
2018Laurent TIRETParisFondation Maladies RaresCentronuclear myopathies, Myotubular myopathies, Fiber-size disproportion myopathies, Mitochondrial myopathiesEstablishment and characterization of a humanized canine DNM2 colony dedicated to validate efficient treatments in mice
2018Stephane BEZIEAUNantesFondation Maladies RaresIntellectual disabilityTrio-based whole-genome sequencing of patients with syndromic and non-syndromic moderate or severe intellectual disability
2018Clement CARREParisFondation Maladies RaresIntellectual Disability (ID)
Non-syndromic X-linked Intellectual Disability (NSXLID)
tRNA Fragments & RNA methylation detection for functional diagnostic in Intellectual Disability
2018Marie-Christine CHABOISSIERNiceFondation Maladies RaresFrasier syndromeIdentification of the Genetic Network Leading to Frasier Syndrome and other Disorders of Sexual Development
2018Mireille COSSEEMontpellierFondation Maladies RaresMyopathies and Muscular dystrophiesEvaluation of a Whole Genome and RNA-sequencing strategy to identify the molecular bases of unsolved myopathies and muscular dystrophies
2018Caroline KANNENGIESSERParisFondation Maladies RaresPleuroparenchymal fibroelastosis
Pulmonary fibrosis
Identification of new genes implicated in Pleuroparenchymal fibroelastosis
2018Stanislas LYONNETParisFondation Maladies RaresMayer-Rokitansky-Kuster-Hauser syndromeDeciphering the molecular mechanisms leading to Mayer-Rokitansky-Kuster-Hauser syndrome
2018Frederique MAGDINIERMarseilleFondation Maladies RaresFacio 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)
2018Anne PHILIPPEParisFondation Maladies RaresNon syndromic autism spectrum disordersWhole exome sequencing in non syndromic autism spectrum disorders
2018Helene PUCCIOIllkirchFondation Maladies RaresFriedreich AtaxiaIdentification of pathological mechanisms underlying proprioceptive neurons dysfunction and cell death in Friedreich Ataxia
2018Florent SOUBRIERParisFondation Maladies RaresPrecapillary Pulmonary arterial hypertensionSearch for new genes in familial pulmonary hypertension by Whole Genome Sequencing
2018Stephane VIVILLEStrasbourgFondation Maladies RaresFemale infertilityExome sequencing in consanguinous families in the quest of genes implicated in oocyte maturation arrest
2018Carolina BAEZA-VELASCOParisFondation Maladies RaresSyndrome d’Ehlers-Danlos hypermobilePatterns d’activite des personnes atteintes du Syndrome d’Ehlers-Danlos hypermobile : facteurs associes et prise de decision
2018Delphine HERONParisFondation Maladies RaresAgenesie du corps calleux isoleeProcessus decisionnels des couples confrontes au diagnostic prenatal d’une agenesie du corps calleux isolee
2018Charlotte JACQUEMOTParisFondation Maladies RaresHungtingtonUtiliser le langage comme marqueur de la maladie de Huntington pour ameliorer sa prise en charge et son suivi
2018Celine LANCELOTAngersFondation Maladies RaresSyndrome de TurnerRetentissement des capacites de cognition sociale et de cognition affective sur les difficultes relationnelles et d'adaptation sociale des adolescentes atteintes du syndrome de Turner
2018Bruno QUINTARDBordeauxFondation Maladies RaresAlbinismeLes determinants biopsychosociaux de l’ajustement dyadique à la maladie chez le sujet albinos et son proche entourage : une approche mixte qualiquantitative
2019Piotr TOPILKOParisFondation Maladies RaresNeurofibromatosis 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
2019Sadia SAEEDLilleFondation Maladies RaresSevere early onset obesityIdentification of new genes and rare variants implicated in monogenic severe obesity in children from a consanguineous population.
2019Carole ESCARTINFontenay aux RosesFondation Maladies RaresHuntington's diseaseMicroglial cells: the third element for mutant Huntingtin clearance in Huntington's disease?
2019Arnaud DUPUISStrasbourgFondation Maladies RaresPlatelet delta storage pool deficiencyLooking for gene(s) responsible for non syndromic platelet delta storage pool deficiency.
2019Clémence VANLERBERGHELilleFondation Maladies RaresFibular hemimelia
Fuhrmann syndrome
Santos syndrome
FATCO (Fibular Aplasia - Tibial Campomelia - Oligosyndactyly)
FFU complex (Femur - Fibula - Ulna)
Deciphering the genetic basis of fibular hypoplasia/agenesis
2019Céline GAUCHERParisFondation Maladies Raresamelogenesis imperfecta
dentinogenesis imperfecta
dentin anomalies
WES for non syndromic dental hard tissues anomalies: ExoDent
2019Anne LETESSIERParisFondation Maladies RaresMEIER-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.
2019Nadine CERF-BENSUSSANParisFondation Maladies RaresVery Early onset inflammatory bowel diseases and congenital diarrheasWhole genome sequencing in Very Early Onset- IBD and related intestinal disorders
2019Aurélien TRIMOUILLEBordeauxFondation Maladies RaresOculo-auriculo vertebral spectrumFurther delineation of molecular bases of Oculo-Auriculo-Vertebral Spectrum
2019Isabelle PERRAULTParisFondation Maladies RaresLeber congenital amaurosis (LCA, MIM204000) and other early-onset severe retinal dystrophies (EOSRD) are leading cause of incurable blindness in childhood.
Sensorineural hearing loss (SHL)
2019Michèle STUDERNiceFondation Maladies RaresHereditary congenital facial paresis (HCFP3) (OMIM #614744)Unravelling the Genetic Pathways Leading to Hereditary Congenital Facial Palsy and Associated Hearing Loss
2019Suzanne LESAGEParisFondation Maladies RaresEarly-onset Parkinson's disease (Orphanet ORPHA:2828)Whole genome sequencing in a North African consanguineous family with an early-onset Parkinson’s disease
2019Grégoire MICHAUXRennesFondation Maladies RaresMicrovillus Inclusion Disease
Familial hemophagocytic lymphohistiocytosis type 5
Role of V0-ATPase in intestinal absorption and Microvillus Inclusion Disease
2019Thierry BIENVENUParisFondation Maladies RaresAnorexia nervosaDevelopment of a new mouse model of anorexia nervosa, a knock-in mice model carrying a missense variant in the cholecystokinin A receptor (CCKAR)
2019Marc BAUD'HUINNantesFondation Maladies RaresSpondyloepimetaphyseal dysplasia SEMDRIBObone
2019Fabrice ANTIGNYLe Plessis RobinsonFondation Maladies RaresPULMONARY ARTERIAL HYPERTENSIONRole of Orai1 in the pathogenesis of pulmonary arterial hypertension
2019Massimo MANTEGAZZANiceFondation Maladies RaresAutism, Intellectual Disability, Epileptic Encephalopathies, Neurodevelopmental DisordersKnock-in mouse model for studying and treating negative dominant SCN2A mutations: a novel pathological mechanism specific of autism mutants.
2019Daniel ABERDAMParisFondation Maladies RaresANIRIDIA; EYE DISEASEProduction d'iPSC dérivées de patients atteints d'aniridie, maladie oculaire rare due à des mutations non sens sur le gène PAX6.
2019Christelle PEYRONLyonFondation Maladies RaresNarcolepsy type 1Development of an hypocretin-KO rat model of narcolepsy type 1
2019Laurence LEGEAI-MALLETParisFondation Maladies RaresX linked hypophosphatemia
rare bone diseases
Zebrafish model of X-linked hypophosphatemia
2019Frederic RELAIXCréteilFondation Maladies RaresDuchenne Muscular DystrophyAccurate preclinical modeling and treatment proof-of-principle for Duchenne Muscular Dystrophy
2019Thomas BOULINLyonFondation Maladies RaresMutations 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
2019Hamid-Reza REZVANIBordeauxFondation Maladies RaresXeroderma pigmentosum type C (XP-C)Modelling of Pigmentary abnormalities in xeroderma pigmentosum type C
2019Nadia BAHI-BUISSONParisFondation Maladies RaresSpinal 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
2019Olivier GOUREAUParisFondation Maladies RaresInherited retinal dystrophies (Retinitis Pigmentosa)Modeling retinitis pigmentosa using retinal organoids derived from patient-specific induced pluripotent stem cells
2019Philippe LORYMontpellierFondation Maladies RaresChildhood Cerebellar Atrophy (ChCA)A mouse model of Childhood Cerebellar Atrophy (ChCA) is required to decipher the pathogenic mechanism and to design a therapeutic option
2019Pascale BOMONTMontpellierFondation Maladies RaresGiant axonal neuropathyHit to Lead discovery for Giant Axonal Neuropathy
2019Yvon TROTTIERStrasbourgFondation Maladies RaresHuntington's diseaseHit-to-lead development of amyloid aggregation modulators in Huntington’s disease and pioneering a new synergic strategy to potentiate their use in therapy
2020Trang HAParisFondation Maladies RaresCongenital Central Hypoventilation SyndromeCongenital Central Hypoventilation Syndrome - searching causal genes in patients without PHOX2B mutations
2020Julien BARCNantesFondation Maladies RaresNew rare cardiac syndrome associated with an enhancer deletion of chromosome 4q25Molecular mechanism of a new syndrome characterized by cardiac electrical and developmental defects and associated with an enhancer deletion of chromosome 4q25
2020Julie STEFFANNParisFondation Maladies RaresMitochondrial diseasesDoes nuclear transfer alter mitochondrial-nuclear crosstalks in the human preimplantation embryo?
2020Benoit ARVEILERBordeauxFondation Maladies RaresAlbinismSearch for new albinism genes
2020Pierre-Louis THARAUXParisFondation Maladies RaresGlomerular 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"
2020Pierre RONCOParisFondation Maladies RaresPLA2R-Associated Membranous NephropathyWhole Genome Sequencing to Unravel the Genetic Mechanisms
of PLA2R-Associated Membranous Nephropathy
2020Caroline SCHLUTH-BOLARDLyonFondation Maladies RaresNeurodevelopmental DisordersCharacterization of 3D chromatin architecture disruption in chromosomal rearrangements to identify candidate genes in neurodevelopmental disorders
2020François-Xavier MAUVAISParisFondation Maladies RaresLysosomal Acid Lipase (LAL) deficiencyIdentifying the molecular basis underlying the heterogeneity among the spectrum of lysosomal acid lipase deficiency by a proteogenomic approach supported by bioinformatics
2020Alexandre FABREMarseilleFondation Maladies RaresCongenital Diarrhea SyndromIdentification of new genes associated with syndromic congénital diarrhea syndrom
2020Marion DELOUSLyonFondation Maladies RaresIdiopathic scoliosis (IS)Towards the identification of the genetic causes of rare autosomal dominant forms of idiopathic scoliosis
2020Sylvie MAZOYERLyonFondation Maladies RaresRNU4ATAC-associated rare diseasesA transcriptomic study in zebrafish models of RNU4ATAC-associated rare diseases: connecting U12 splicing defects to developmental abnormalities
2020Laura MARYRennesFondation Maladies RaresDisorders of sex development (DSD)Identification of genes involved in syndromic disorders of sex development
2020Sophie NICOLEMontpellierFondation Maladies RaresMonogenic motor channelopathiesSearch for isoform-selective sodium channel modulators to treat monogenic motor channelopathies
2020Lucile HOCHEvryFondation Maladies RaresGlycogen Storage Disease Type IIIUse of pluripotent stem cells to model and treat GSDIII
2020Veronique STOVENParisFondation Maladies RaresCystic FibrosisNew drugs for Cystic Fibrosis based on machine-learning approaches
2020Eric DURANDMarseilleFondation Maladies RaresCystic FibrosisTowards the development of Pseudomonas aeruginosa « virulence blockers » targeting the T6SS nanomachine: A Hits-To-Lead approach
2020Sandrine GULBERTINancyFondation Maladies RaresMucopolysaccharidosesDevelopment of a specific inhibitor of the glycosyltransferase β4GalT7 for substrate reduction therapy in mucopolysaccharidoses: towards the hit to lead stage
2020Thierry LEVEILLARDParisFondation Maladies RaresRetinitis pigmentosaBlindTimee: Reconstruction of the cone-photoreceptor outer segment to recover vison in a large model of retinitis pigmentosa
2020Nathalie ANGEARDParisFondation Maladies RaresCongenital central hypoventilation syndromeRessources attentionnelle chez l'enfant avec syndrome d'Ondine
2020Karinne GUENICHEParisFondation Maladies RaresMayer-Rokitansky-Küster-Hauser syndromeEvolution de l’impact psychosocial de l’annonce diagnostique du syndrome de Rokitansky: EIPSAMRKH5
2020Barbara LE DRIANTAmiensFondation Maladies RaresPermanent neonatal hearing impairmentAccompagnement des parents confrontés au diagnostic de surdité permanente néonatale : analyse des difficultés et des besoins.
2020Yannick LE HENAFFRuenFondation Maladies RaresCongenital diaphragmatic herniaL'engagement dans les activités physiques et sportives chez les adolescents atteints de hernie de coupole diaphragmatique
2020Pierre LOMBRAILParisFondation Maladies RaresCystic FibrosisExpérience Patient du Parcours Mucoviscidose pendant la pandémie de Covid-19
2020Alain LOUTELilleFondation Maladies RaresAmyotrophic lateral sclerosisEvaluation 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
2020Alexandre MATHIEU-FRITZMarne-la-ValléeFondation Maladies RaresCystic FibrosisÉtude 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
2020Aurore PELISSIERDijonFondation Maladies RaresIntellectual 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.
2021Sara BALDASSARRIParisFondation Maladies RaresFocal Cortical Dysplasia (FCD)Dissection of the genetic etiology of epilepsy with focal cortical dysplasia
2021Guilaine BOURSIERMontpellierFondation Maladies RaresAmyloidosis of unknown cause (AAx)Exome sequencing of inflammatory amyloidosis of unknown cause (AAx)
2021Clément CARREParisFondation Maladies RaresIntellectual diasbility (ID)Lost in translation: RNA methylation control translation in ID patient mutated in FTSJ1
2021Svetlana GOROKHOVAMarseilleFondation Maladies RaresEarly infantile epileptic encephalopathyIntegrating transposable element screening into the diagnostics of patients with rare genetic diseases
2021Gilles LAVERNYIllkirchFondation Maladies RaresIdiopathic Infantile Hypercalcemia (IIH)Identification of ZK therapeutic activities for Idiopathic Infantile Hypercalcemia
2021Jean-Yves PICARDParisFondation Maladies RaresPersistent Müllerian duct syndrome (PMDS)Thinking outside the box : a search for new genes responsible for Müllerian regression
2021Amélie PITONIllkirchFondation Maladies RaresIntellectual diasbility (ID)Analysis of parental genomes in individuals with intellectual disability without pathogenic mutation identified by solo WGS
2021Amédée RENANDNantesFondation Maladies RaresAutoImmune Liver Diseases (AILD)Tracking autoreactive CD4 T cells in rare autoimmune liver diseases
2021Jean SOULIERParisFondation Maladies RaresFanconi AnemiaDysfunctional hematopoietic stem cells and clonal hematopoiesis in Fanconi Anemia: what underlies an attenuated phenotype?
2021Anne Claude TABETParisFondation Maladies RaresAutismCharacterization of non recurrent duplications by next-generation optical mapping in patients with autism
2021Angela TINGAUD-SEQUEIRABordeauxFondation Maladies RaresOculo-Auriculo-vertebral spectrumWhole-genome sequencing in the complex Oculo-Auriculo-vertebral spectrum: application on whole-exome sequencing negative familial cases versus direct analysis
2022Izabela SUMARAIllkirchFondation Maladies RaresFragile X syndromeTherapeutic dissolution of aberrant nucleoporin condensation in Fragile X syndrome using small molecule inhibitors
2022Marco PONTOGLIOParisFondation Maladies RaresHNF1B-Cakut (Congenital abnormalities of the Kidney and the Urogenital tract
HNF1B-ADTKD (Autosomal Dominant Tubulo-Interstitial Kidney Disease)
A pharmacological therapy for HNF1B-deficiency
2022Barbara BARDONIValbonneFondation Maladies RaresFragile X Syndrome
Autism Spectrum Disorder
Intellectual disability
Identification of drug candidates to treat the Fragile X Syndrome
2022Mahel ZEGHOUFSaclayFondation Maladies RaresX-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)
2022Cécile VOISSETBrestFondation Maladies RaresCreutzfeldt-Jakob disease (CJD)
Gerstmann–Sträussler–Scheinker (GSS)syndrome
Fatal familial insomnia (FFI)
Identification and structural optimization of novel first-in-class anti-prion compounds
2022Minchul KIMIllkirchFondation Maladies RaresTubular aggregate myopathy (TAM)Tracking the origin of tubular aggregate myopathy by single-nucleus transcriptomics
2022Djihad HADJADJParisFondation Maladies RaresPredisposition to familial midgut carcinoid tumors (FMCT).

Predisposition to neuroendocrine tumors.
Identification of constitutional genetic abnormalities predisposing to Familial midgut carcinoid tumors
2022Marion DELOUSLyonFondation Maladies RaresTaybi-Linder Syndrome, TALS or Microcephalic Osteodysplastic Primordial Dwarfism type I (MOPDI), OMIM 210710
Roifman Syndrome, RFMN, OMIM 616651
Lowry-Wood Syndrome, LWS, OMIM 226960
2022Stéphane VIVILLEStarsbourgFondation Maladies RaresInfertility
Male infertility
Non-obstructive azoospermia
Deciphering genetic causes of non-obstructive azoospermia via exome sequencing; a way to personalize treatments and to develop new diagnostic tools.
2022Audrey PUTOUXLyonFondation Maladies RaresAnencephalyTowards the identification of genes involved in recurrent anencephaly
2022Marie-Louise FREMONDParisFondation Maladies RaresRheumatoid factor positive arthritis
Type I interferonopathies
Identifying Novel Monogenic Interferon-Mediated Juvenile Rheumatoid Arthritis
2022Xavier PUECHALParisFondation Maladies RaresWhipple diseaseDeciphering genetic and molecular bases of Whipple disease
2022Sandrine VUILLAUMIER-BARROTParisFondation Maladies Rarescongenital disorder of glycosylationResearch of homozygous variant in 5’ or 3’UTR ALG12 region or cis regulating elements by whole genome for one ALG12-CDG suspected patient
2022Céline HUBERParisFondation Maladies RaresChondrodysplasias 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
2022Alice LEPELLEYParisFondation Maladies RaresRare bone diseasesCharacterisation of the role of IFN signalling in neural cells in ATAD3A disease
2022Florian LESAGENiceFondation Maladies RaresRare neurological diseases, Developmental anomalies and malformation syndromesMouse models of human Birk Barel syndrome
2022Sarah BECK-CORMIERNantesFondation Maladies RaresRare neurological diseasesGeneration of a new mouse model for the rare PFBC disease
2022Justine MASSONParisFondation Maladies RaresRare neurological diseasesCortical and cerebellar organoids, new models to study a rare neurodeveloppemental disease caused by mutations in the YIF1B gene
2022David HICKSStrasbourgFondation Maladies RaresSensory disorders (rare eye diseases and deafness)Creation of a diurnal rodent model of Stargardts Disease STGD1
2022Stéphanie TRUDELToulouseFondation Maladies RaresRare neurological diseasesGeneration and characterization of iPSCs from Sanfilippo type B patients fibroblast
2022Matthieu GIRAUDNantesFondation Maladies RaresRare systemic and autoimmune disorders, Immune deficiency disordersA new rat model of deficient anterior pituitary gland with variable immune deficiency syndrome by mutation of the NFKB2 gene
2022Anne-Cécile REYMANNStrasbourgFondation Maladies RaresRare neurological diseases, Other rare diseasesCRISPR targeted mutagenesis of C. elegans actin: novel insights into the understanding of human non-muscle actinopathies
2022Valérie ALLAMANDParisAFM TéléthonNeuromuscular disease, connective tissue disordersSuppression of premature termination codons by anticodon-edited tRNAs
2022David BONNAFEOrsayAFM TéléthonSjögren’s Syndrome, Rare systemic and autoimmune disordersA 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.
2022Cécile CONTIN-BORDESBordeauxAFM TéléthonSystemic Sclerosis, Rare systemic and autoimmune disordersEndothelial cell-induced macrophages efferocytosis alteration during Systemic Sclerosis: mechanistic dissection and new therapeutic intervention to limit fibrosis.
2022Isabelle MARTYLa TroncheAFM TéléthonNeuromuscular diseaseNanoblades as a genome editing tool for neuromuscular disorders
2022Olivier TABARYParisAFM TéléthonCystic Fibrosis, Other rare diseasesDevelopment of a new microRNA therapeutic approach for the treatment
of all patients with Cystic Fibrosis
2022Isabelle TALONStrasbourgAFM TéléthonDevelopmental anomalies and malformation syndromesPediatric mesh innovation with 3D bioprinting process : the first prosthesis
design for children
2013claude BESMONDParisMécène de la Fondation Maladies RaresOther rare diseasesNiNi
2013Jean-Luc GalziStrasbourgMécène de la Fondation Maladies RaresImmune deficiency disordersIdentification de neutraligands de CXCL12 et d’antagonistes de CXCR4 pour bloquer le gain de fonction de signalisation lié au syndrome WHIM
2013Laurent GOUYAParisMécène de la Fondation Maladies RaresHereditary metabolic diseasesTraitement des Porphyries Hépatiques Aiguës et Erythropoïétiques : Recherche d’inhibiteurs des enzymes régulatrices ALAS1 et ALAS2
2013Laurence LEGEAI-MALLETParisMécène de la Fondation Maladies RaresRare head and neck malformationsAnomalies cranio-faciales et FGFR3
2013Christel THAUVIN-ROBINETDijonMécène de la Fondation Maladies RaresRare head and neck malformationsCréation d’un modèle murin du syndrome de Cohen
2019Naziha KHEN-DUNLOPParisAssociatif (APEDHia)Developmental anomalies and malformation syndromesFETAL LUNG EVALUATION ON BOLD-MRI IN CONGENITAL DIAPHRAGMATIC HERNIA
2019Bertrand DIEUSAERTHirsonAssociatif (AFAF)Rare neurological diseasesCOM-ATAXIE Recherche de solutions innovantes d’aide à la communication pour les personnes ataxiques (Ataxie de Friedreich et ataxies proches) via les outils numériques
2019Guillaume CANAUDParisMécène de la Fondation Maladies RaresSyndromes d'hypercroissanceSyndromes d’hypercroissance : amélioration de l’état de santé des patients
2020Aloïse MABONDZOSaclayAssociatif (Xtra)Rare neurological diseasesDéveloppement d'un futur médicament pour traiter le déficit en transporteur de la créatine
2020Pedro Henrique DE LIMA PRATAParisAssociatif (HPN)Rare non-malignant hematological diseasesInherited complement regulatory gene mutations in paroxysmal nocturnal hemoglobinuria: an influence in disease presentation and treatment efficacy?
2020Simona PAGLIUCAClevelandAssociatif (HPN)Rare non-malignant hematological diseasesImmunogenomics of idiopathic bone marrow failure disorders: immune-escape mediated by class I/II HLA somatic mutations
2020Julien NIZARDNantesAssociatif (Algo France)Rare neurological diseasesTowards 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.
2020Valérie DESQUIRET-DUMASAngersMécène de la Fondation Maladies RaresHereditary metabolic diseasesTargeted-therapeutic approaches to restore oxidative metabolism in rare diseases associated to mitochondrial complex I mutations
2020Marie-Paule GELLEReimsMécène de la Fondation Maladies RaresRare head and neck malformationsAméliorer le parcours de soin des enfants présentant des anomalies dentaires rares
2020Isabelle TALONStrasbourgMécène de la Fondation Maladies RaresDevelopmental anomalies and malformation syndromesAméliorer le parcours de soin et de vie des enfants atteints d’hernie diaphragmatique congénitale
2020Véronique DANEL BRUNAUDLilleMécène de la Fondation Maladies RaresNeuromuscular disordersMise 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)
2021Sandrine CARABEUXParisAssociatif (PraderWilli)Developmental anomalies and malformation syndromesExplorer un nouveau mode d'intervention sociale pour améliorer l'accompagnement des personnes atteintes du SPW et d'autres handicaps rares et complexes.
2021Hélène DOLLFUSStrasbourgAssociatif (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)
2021Marc BITOUNParisAssociatif (PACS1)Developmental anomalies and malformation syndromesProof of concept of therapy by allele-specific silencing for the Schuurs-Hoeijmakers Syndrome
2021Guy LENAERSAngersAssociatif (AAP AMMi)Rare neurological diseasesA pharmacological approach of the Leigh syndrome related to MTFMT recessive variants
2021Alessandro PRIGIONEDusseldorfAssociatif (AAP AMMi)Rare neurological diseasesModeling Leigh syndrome caused by MTFMT mutations using patient- specific neuronal cells
2021Kevin LE DUCLilleAssociatif (APEHDia)Developmental anomalies and malformation syndromesImpact of analgesia before intubation and intact cord resuscitation on cardiorespiratory adaptation at birth: study on a CDH newborn lamb’s model.
2021Jamila FAIVREVillejuifAssociatif (ALBI)Rare hepato-gastroenterological diseasesImmune landscape in human primary sclerosing cholangitis
2021Sara LEMOINNEParisAssociatif (ALBI)Rare hepato-gastroenterological diseasesEffect of the probiotic Faecalibacterium prausnitzii in primary sclerosing cholangitis
2021Amedée RENANDNantesAssociatif (ALBI)Rare hepato-gastroenterological diseasesDirect effect of steroid hormone pathways on pathogenic T lymphocytes in auto-immune liver diseases.
2021Ingrid BANOVICRouenAssociatif (AAP HPN)Rare non-malignant hematological diseasesFatigue Chronique et fonctionnement cognitif des patients atteints de HPN et AM
2021David MICHONNEAUParisAssociatif (HPN)Rare non-malignant hematological diseasesCompréhension des mécanismes de la tolérance opérationnelle après allogreffe de cellules souches hématopoïétiques
2021Céline LANCELOTAngersMécène de la Fondation Maladies RaresRare endocrine disordersMieux comprendre le fonctionnement social et émotionnel des jeunes filles avec un syndrome de Turner pour mieux les accompagner dans la vie quotidienne
2021Françoise SCHMITTAngersMécène de la Fondation Maladies RaresRare hepato-gastroenterological diseasesLaparo-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
2021Clémence VANLERBERGHELilleMécène de la Fondation Maladies RaresDevelopmental anomalies and malformation syndromesDeciphering The Genetic Basis of Fibular Hypoplasia/ Agenesis - Functional Studies For Non Coding Variants
2021Audrey LECOUFLELilleMécène de la Fondation Maladies RaresDevelopmental anomalies and malformation syndromesAméliorer la prise en charge d'enfants souffrant d'atresie de l'oesophage
2021Fabrice LEJEUNELilleMécène de la Fondation Maladies RaresPulmonary rare diseasesCaracterisation des nouvelles molécules correctrices de mutation non-sens
2021Betty GARDIENantesMécène de la Fondation Maladies RaresMaladie de von Hippel-LindauEtude des mutations identifiées dans les nouveaux exons du gène VHL associées à des polyglobulies ou la maladie de VHL
2021Betty GARDIENantesMécène de la Fondation Maladies RaresMaladie de von Hippel-LindauModélisation cellulaire des pathologies associées aux mutations du gène VHL
2021Nicoletta DIASIOStrasbourgMécène de la Fondation Maladies RaresDevelopmental anomalies and malformation syndromesLa fabrique hormonale du genre et des âges : entre négociations et médicalisation des variations corporelles - PHARMAGENRE
2021Roland LIBLAUToulouseMécène de la Fondation Maladies RaresRare systemic and autoimmune disordersHUMAN IMMUNE SIGNATURES OF NARCOLEPSY WITH CATAPLEXY (2021)
2021Pascale QUIGNONRennesMécène de la Fondation Maladies RaresRare neurological diseasesGenetic research in canine epilepsies as models for human epilepsies
2021Jérome DINETNancyMécène de la Fondation Maladies RaresRare non-malignant hematological diseasesHEMOGAME Co-conception d’un prototype d’un serious game destiné aux enfants atteints de troubles de la coagulation, à leurs parents et aux enseignants
2021Dan ISTRATECompiègneMécène de la Fondation Maladies RaresOther rare diseasesDEDALE : Outil facilitant l’accès aux aides médico-sociales par l’expression des besoins du patient
2021Guy LENAERSAngersMécène de la Fondation Maladies RaresOther rare diseasesIntérêt de la micro-nutrition pour le traitement des maladies rares
2022Pierre-Olivier FERNAGUTPoitiersAssociatif (ARAMISE)Rare neurological diseasesAlpha-synuclein and the fate of oligodendrocytes in Multiple System Atrophy
2022Nathalie JONCAToulouseAssociatif (AIF)Dermatological diseasesRARESKINLIP: Innovative in vitro models of ichthyosis to assess the efficiency of a novel lipid substitutive therapy in the rescue of the epidermal barrier
2022Dimitri MOREAUGeneveAssociatif (PACS1)Developmental anomalies and malformation syndromesDevelopment of a robust cell-based microscopy assay for compound screening project on PACS1 (R203W) rare disease
2022Gaëlle BOUGEARDRouenAssociatif (Li-Fraumeni)Rare cancersTP53 wt allele as a modifier factor in Li-Fraumeni syndrome
2022Hamid-Reza REZVANIBordeauxMécène de la Fondation Maladies RaresDermatological diseasesModelling of pigmentary abnormalities in xeroderma pigmentosum type c (XPC)
2022Alban BARUTEAUNantesMécène de la Fondation Maladies RaresCardiovascular diseasesOSCAR : Outil de Suivi CARdiop diatrique domicile
2022Lucile SESEParisMécène de la Fondation Maladies RaresPulmonary rare diseasesRôle des facteurs socio-économiques et environnementaux sur l’histoire naturelle de la fibrose pulmonaire idiopathique : EXPOSOMFPI
2022Guillaume CANAUDParisMécène de la Fondation Maladies RaresSyndromes d'hypercroissancePIK3CA cible thérapeutique de choix des malformations vasculaires liées à des mutations de la voie RAS
2022Damien BREZULIERRennesMécène de la Fondation Maladies RaresConnective tissue disordersValidation d’un modèle porcin de défauts osseux en site de croissance pour la reconstruction
2022Gaëlle BOUGEARDVillejuifMécène de la Fondation Maladies RaresSyndrome de Li-FraumeniInnovation technologique pour l’amélioration de la prise en charge et la recherche d’un traitement dans le syndrome de Li-Fraumeni
2022Nicolas PENELLillePrix - Fondation APICILRare cancersBase de données clinico-biologiques prospectives des tumeurs desmoïdes
2021Léon KAUTZToulousePrix - Alnylam Pharmaceuticalsβ-thalassémieCibler l’hépatokine ERFE-2 pour diminuer la surcharge en fer et améliorer l’anémie dans la β-thalassémie
2021Pierre-Louis THARAUXParisPrix - Alnylam PharmaceuticalsGlomerular DiseasesSILENT COLLAPSE : miRNome des glomérulopathies collapsantes humaines et expérimentales et preuve de concept thérapeutique par silençage génique du miR-92a
2022Christine LEAUTE-LABREZEBordeauxPrix - Alnylam PharmaceuticalsSyndrome de Sturge-Weber, Dermatological diseases Approche ARN interférent ciblant la mutation du gène GNAQ dans les anomalies vasculaires