French Foundation for Rare Diseases

2017

  • A new model for cystic fibrosis carrying the F508DEL mutation in the CFTR gene
  • Combining high throughput sequencing approaches to define the genetic bases of myopathies
  • Dissecting molecular pathways involved in COL4A1-related intracerebral hemorrhage
  • Elèves touchés par l’hémophilie et autres maladies hémorragiques familiales : commentt rétablir l’égalité des chances à l’école
  • Establishment of a rat model for AL amyloidosis
  • Genetic bases of Primary Intestinal lymphangiectasia
  • Human immune signatures of narcolepsy with cataplexy
  • Identification of genes for isolated agenesis of the corpus callosum without intellectual deficiency
  • Identification of new genes implicated in oral-facial-digital syndromes, in exome-negative patients
  • Identification of new genes implicated in undiagnosed developmental anomalies following a genotype-first approach using genome sequencing, in trio-exome-negative patients
  • Identification of new genes involved in Marfan syndrome and Familial Thoracic Aortic Aneurysm and Dissection
  • Identification of nuclear genes of mitochondrial diseases with neurological involvement
  • 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
  • Identification of the molecular basis of genochondromatosis
  • Impact of ANKS3 human mutation in rat model
  • In search of genetic modifiers to predict the Age at Onset in Frontotemporal-Lobar Dementia
  • Physiopathological characterization of a rat model of Kufor-Rakeb syndrome
  • Prise en charge pluridisciplinaire et personnalisée des troubles du comportement dans la Dégénérescence Lobaire Fronto-Temporale
  • PRKAG2 mutations as a molecular explanation on patients with dilated cardiomyopathy and endocardial fibroelastosis?
  • Study of the physiopathology of RNU4ATAC-associated diseases
  • Temps et danse comme outil de remédiation du fonctionnement dans les anomalies de développement du cervelet
  • Unraveling molecular mechanisms of ETV6-related thrombocytopenia
  • Xenopus epidermis development in the search for modifier genes of epidermolysis bullosa
  • Xenopus tropicalis model of spinal muscular atrophy with respiratory distress (SMARD1)
  • Zebrafish model of FGFR3-related skeletal disorders

 

2016

  • Dissection of molecular bases of Cornelia de Lange syndrome: identification of new genes in pre-screened patients
  • DNA methylation and pulmonary disease in cystic fibrosis patients
  • Elucidation of the molecular variants responsible for sudden cardiac death in two large families
  • Evaluation of RNA-sequencing strategies to better diagnose intellectual disability
  • Exome sequencing to find new candidate genes involved in Goldenhar Syndrome and Oculo-Auriculo-Vertebral Spectrum
  • Full thickness circumferential esophageal replacement by a tissue engineered construct in a porcine model
  • Genetic analysis of dominant optic atrophy
  • Genotype-endophenotype correlation study in patients with a MNX1 gene non mutated Currarino syndrome
  • HTS screening to identify molecules correcting connexon activity in CMTX disorder
  • Identification of a gene underlying same coagulation factors abnormalities and CDG II profile in two unrelated family with anticipated dominant transmission
  • Identification of a new gene in a familial form of pulmonary alveolar proteinosis
  • Identification of molecules able to control interferon beta transcription in patients with gain-of-function mutations in TMEM173
  • Identification of new genes for familial forms of generalized epilepsies
  • Identification of novel genes underlying Bardet-Biedl Syndrome using Next Generation Sequencing
  • Identification of the unconventional genetic basis for familial cortical myoclonic tremor and epilepsy
  • Membranous neohropathy, a rare autoimmune kidney disease: establishing the first model in non human primates
  • Modeeling the Usher syndrome type I (USH1) retinopathy in pig: physiopathology & gene therapy
  • Molecular basis dissection of isolated Klippel Feil syndrome: identification of new genes
  • Preclinical validation of a stem cell-derived Retinal Pigmented Epithelium (RPE) in non-human primates
  • Screening of pharmacological molecules to restore oxidative metabolism in rare diseases associated to mitochondrial complex I mutations
  • Search for inhibitors of the galactosyltransferase β4GalT7 by High Throughput Screening : towards a specific substrate reduction therapy in mucopolysaccharidoses
  • Studying myogenesis and the onset of Duchenne muscular dystrophy (DMD) in human pluripotent stem cells to identify early disease markers and potential therapeutic targets
  • Trio-based whole-genome sequencing of patients with syndromic and non-syndromic severe intellectual disability
  • Whole genome sequencing in Aicardi-Goutières syndrome and related type I interferonopathies

 

2015

  • Analyse of regulatory elements sequences in microphthalmia/anophthalmia
  • Determination of mendelian causes of intestinal inflammation
  • Dissection of molecular bases of microcephalic osteodysplastic primordial dwarfisms: identification of new genes in pre-screened patients
  • Gene defect identification in x-linked retinitis pigmentosa cases excluded for currently known gene defects
  • Genetic basis of childhood-onset cerebellar atrophy associated with intellectual disability
  • Genetics of Focal Cortical Dysplasias
  • Genetics of male infertility: genes implicated in non-obstructive azoospermia
  • Identification of a common signaling pathway involved in biliary atresia
  • Identification of a gene involved in familial right ventricular hypoplasia
  • Identification of a gene involved in rhombencephalosynapsis
  • Identification of genes involved in familial forms of sarcoidosis
  • Identification of genetic causes of human non-obstructive azoospermia
  • Identification of new genes associated with syndromic diarrhea/ tricho-hepato-enteric syndrome
  • Identification of new genes for autosomal dominant focal epilepsies
  • Identification of new genes in congenital neutropenia
  • Identification of new genes in exertional heat stroke syndrome with positive in vitro contracture test and no mutation in ryr1 gene
  • Identification of new genes involved in Marfan Syndrome and Familial Thoracic Aortic Aneurysm and Dissection (FTAAD)
  • Identification of new genes involved in platelet dysfunction
  • Identification of new genes responsible for mitochondrial disorders by exome sequencing
  • Identification of novel gene defects underlying retinitis pigmentosa in France by whole exome sequencing
  • Identification of novel genes underlying Bardet-Biedl and Bardet-Biedl-like syndromes
  • Identification of nuclear genes responsible of abnormal respiratory chain assembly
  • Identification of the gene for Pai syndrome through Whole Genome Sequencing
  • Identification of the gene(s) responsible for recessive rhabdomyolysis and Reye syndrome in 3 patients from 2 families presenting the same phenotype
  • Identification of the molecular bases of a new phenotype of multiple malformations in a multiplex family
  • Identification of the molecular basis of cochlear nerve aplasia
  • Identification of the molecular basis of the Asphyxiating Thoracic Dysplasia
  • Investigating novel molecular basis for Cockayne syndrome
  • Investigating novel molecular basis for periventricular nodular heterotopia
  • Molecular identification of novels forms of inherited lymphoproliferation syndromes associated with a susceptibility to EBV infection
  • Progressive external ophtalmoplegia with multiple mitochondrial DNA deletions: identification of new genes
  • Unmasking of a recessive mutation: what role in the incomplete penetrance of CNVs

 

2014

  • A rat model for the 16p11.2 microdeletion syndrome to better understand and treat the cognitive and metabolic disorders induced in human
  • A rat model of amyotrophic lateral sclerosis & frontotemporal dementia
  • A zebrafish model of SCA7 for physiopathological analyses and drug evaluation
  • Becoming an adult with a developmental anomaly: barriers and facilitators
  • Characterization of a zebrafish model of Rett syndrome
  • CHCHD10S59L mouse model: how mitochondrial dysfunction promotes motor neuron disease?
  • Dangerous liaisons: the link between spastin, atlastin and BMP signaling in the pathogenesis of hereditary spastic paraplegia
  • Delineation of the molecular basis of cortical malformation in 22q11.2 deletion syndrome
  • Development of a bioengineering treatment for the necrotic pulp of patients with familial rickets: preclinical approach in the mini-pig
  • Development of an In vivo model for Giant Axonal Neuropathy
  • Development of C. elegans models for human muscular dystrophies
  • Direct access to Nesprin1 variants contribution to Emery-Dreifuss Muscular Dystrophy and Autosomal Recessive Cerebellar Ataxia ARCA1
  • 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.).
  • Early–‐onset neuromuscular presentations of mitochondrial disorders: Identification of new genes by exome sequencing
  • Establishment of a collaborative e-platform to identify and characterize the handicaps of patients with rare autoimmune diseases within the cell therapy or biotherapy
  • Exome sequencing in two large pedigrees with multiple cases of IgA Nephropathy
  • Exome sequencing of patients with intellectual disability and no mutation identified in known genes
  • First mammalian model for tubular aggregate myopathy and Stormorken syndrome
  • FSHD: targeting two alternative FAT1 exons with one mouse
  • Gene therapy for pediatric forms of Pompe disease using AAV gene transfer to the CNS: preclinical feasibility in nonhuman primate
  • Generation of a humanized mouse model for Recessive Dystrophic Epidermolysis Bullosa harbouring a recurrent COL7A1 mutation
  • Generation of a novel mouse model of hemophilia A constituted of mice transgenic for a human T cell receptor specific for therapeutic factor VIII
  • Generation of a zebrafish model to study KIF11 motor protein mutations associated with the human MLDRC rare syndrome
  • Generation of an ALS-FTD mouse model based on a conditional CHMP2B intron 5 mutant knock-in
  • Generation of new endogenous drosophila models of trinucleotide repeat expansion diseases
  • Genetic basis of frontonasal dysplasia
  • Genetics and Genomics of primary ovarian insufficiency: an entry point to understand ovarian function
  • Hereditary aceruloplasminemia: mechanisms involved in the expression of the disease and development of new therapeutic approaches.
  • High Throughput screening for the identification of amyloid aggregation modulators in Huntington’s disease
  • Identification of a gene underlying dominant epilepsy in a SLC2A1/GLUT1 negative family (trio analysis)
  • Identification of a new gene involved in Floating Harbor syndrome
  • Identification of new genes involved in brain-lung-thyroid syndrome
  • Identification of new genes involved in microlissencephaly
  • Identification of new genes involved in severe bone marrow failure associated with telomere and/or DNA repair defects
  • Identification of new inherited thrombophilia in selected families
  • Identification of novel genes in autosomal dominant Retinitis Pigmentosa in 21 fully screened families for known genes
  • Identification of novel genes in Charcot–‐Marie Tooth disease in Lebanese consanguineous families
  • Identification of novel genes responsible for autism-epilepsy phenotypes
  • Identification of the genetic bases of Aicardi Syndrome
  • Identification of the molecular bases of OEIS complex in a multiplex family
  • Identification of the molecular basis of the Ellis-Van Creveld (EVC) Syndrome
  • Identifying new genes responsible for autosomal inheritance of Russell-Silver syndrome
  • IMPG1 gene knock out, a mouse model for human vitelliform macular dystrophy and retinitis pigmentosa
  • Is MATRIPTASE-2 involved in iron homeostasis regulation and anemia exclusively through the hepatocytes?
  • Modeling infantile neuroaxonal dystrophy, a NALCN channel-related disorder, in zebrafish
  • Molecular characterization of blepharocheilodontic (BCD) syndrome through exome sequencing in 5 families
  • Mouse modeling of a missense mutation in the essential gene pik3r4 (vps15) responsible for a ciliopathy-like disease.
  • Neuromuscular excitability disorders in zebrafish: progressive muscle weakness in periodic paralysis and congenital myasthenia.
  • News genes involved in bradykinin-mediated angioedema with reduced C1-inhibitor function and no mutation in SERPING1 or F12 genes
  • Psychosocial impact of deafblindness handicap on autonomy within the life course in people with Usher, Wolfram and Stickler Syndromes
  • Rat model for calpainopathies
  • Research of a major gene for familial form of bipolar disorder in an extended pedigree with an ascertained founder effect
  • Rescue myonuclear domains establishment in centronuclear myopathies with chemical compounds
  • Reversing motor deficits in GIant Axonal Neuropathy
  • Role of KCNK3 in the pathogenesis of pulmonary arterial hypertension
  • Role of LRBA in the control of the immune response: implication in primary immunodeficiencies
  • Scleroderma and occupational difficulties: identify to better help
  • Search for a new gene responsible for periodic paralysis by whole exome analysis of one family and sporadic cases
  • Search for modifier genes in ALPS-Fas
  • Search for new genetic determinants of male infertility due to congenital bilateral absence of the vas deferens
  • SMAD4 and Myhre syndrome
  • Study of 9 complex chromosomal rearrangements by massively parallel sequencing: An unifying mechanism?
  • Systemic injection in the grmd dog of a recombinant AAV vector encoding for the μdystrophin: efficiency and global safety
  • The  LYMPHO-RAC study: analyzing out-of-pocket payments of primary lymphedema  patients in France
  • Towards a model for rare intestinal absorption diseases in C. elegans
  • Treatment of rapidly progressive glomerulonephritis by powerful inhibitors of HB-EGF pathway in pig
  • Understanding NEDD4L-related mcd through investigations of a knock in mouse model
  • Validation and pathophysiological characterization of novel genes for myopathies (MYO-fish)
  • West Syndrome: construction of knowledge and experiences of singularity familie
  • Whole genome sequencing in 5 families with hereditary spastic paraplegia
  • Whole‐exome sequencing to identify genetic alterations associated with sirenomelia (ADEP project)
  • Zebrafish model of prion disease

 

2013

  • A genetic survey on Early Repolarisation Syndrome
  • A mouse model for desmin-related myopathies
  • Advances in the understanding and treatment of Catecholamine Polymorphic Ventricular Tachycardia (CPVT)
  • Analysis of R-spondin1 functions in transdifferentiation and maintenance of the ovary
  • Antisense oligonucleotide therapeutic strategy in EPP: Development of a humanized mouse model
  • Baraitser-Winter syndrome – searching causal genes in patients without ACTB/G1 mutations
  • Biliary atresia in consanguineous and familial cases
  • BMP10 in Hereditary Hemorrhagic Telangiectasia (HHT) disease
  • Childbirth and parenthood in women with motor disability related to rare diseases
  • Creation and epigenetic/phenotypic characterization of a mouse model for the ICF type II syndrome
  • Development of a murine model overexpressing human Kallikrein 14 in the context of Netherton syndrome
  • Exome sequencing for identification of the gene responsible for a rare familial midgut carcinoid tumor syndrome
  • Exome sequencing of 8 patients with a neurologic form of type I congenital disorder of glycosylation
  • Exome sequencing of familiar isolated scaphocephalies
  • Exome sequencing to find new gene(s) involved in oculocutaneous albinism
  • Exome sequencing to identify genes associated with Febrile Induced Refractory Epilepsy in School (FIRES)
  • Exome study in Rubinstein-Taybi syndrome patients with no alteration in the CREBBP and EP300 genes
  • Functional characterization of Spint2 in intestinal morphogenesis – Physiopathological repercussions in the pathogenesis of Congenital Tufting Enteropathy (CTE)
  • Further identification of the molecular basis of the spondylodysplastic dysplasias group through the study of 6 families
  • Generation of an inducible model of amyotrophic lateral sclerosis through conditional truncation of fus/als
  • Genetic analysis of inherited mitral valve prolapsed
  • Genetics of hereditary hemorrhagic telangiectasia
  • Genetics of male infertility: genes implicated in non-obstructive azoospermia
  • Huntington’s disease: modelling huntingtin proteolysis in mouse (proteo-htt)
  • Identification of a gene involved in septo optic dysplasia with schizencephaly
  • Identification of genes involved in autosomal recessive steroid-sensitive nephrotic syndrome (SSNS)
  • Identification of genes responsible for monogenic forms of juvenile onset insulindependent diabetes
  • Identification of new gene involved in familial thoracic aortic aneurysm and dissection (FTAAD)
  • Identification of new gene(s) responsible for recessive distal Renal Tubular Acidosis
  • Identification of new genes associated with inherited cardiomyopathies
  • Identification of new genes involved in Holt Oram Syndrome by Exome Sequencing
  • Identification of new genes involved in nephronophthisis
  • Identification of new genes involved in paroxysmal kinesigenic dyskinesias
  • Identification of new genes involved in rare forms of autosomal dominant hypercholesterolemia
  • Identification of novel genes involved in West syndrome in ten patients with extensive pre-screening
  • Identification of targeting correctors of ABCB4/MDR3 defective mutants by a high throughput screening approach
  • Identification of the causal gene in a family with non specific X-linked disability
  • Identification of the disease causing gene in sporadic and familial forms of Camurati- Engelmann syndrome not linked to TGFB1
  • Identification of the gene(s) responsible for recessive rhabdomyolysis in 10 patients from 5 families presenting the same phenotype
  • Identify molecules able to induce HPRT-like activity in HPRT-deficient fibroblasts and dopaminergic neuronal cells as models for Lesch-Nyhan Disease
  • Identifying genetic causes of early infantile epileptic encephalopaties
  • Identifying new genes of Waardenburg syndrome
  • Impact of autoimmune disease on quality of life: a qualitative study
  • Impact of three rare genetic diseases: comparative and exploratory psychosocial research
  • Inactivation of the thioredoxin-like protein RdCVFL encoded by the Nucleoredoxin-like-1 gene: RdCVFL-/- mouse
  • KI Mouse model for Migrating partial seizures in infancy
  • Matriptase-2: identification of pharmacological inhibitors to decrease iron overload in non-transfusion-dependent thalassemia
  • Molecular and cellular causes, and physiopathology of heterotopias
  • Molecular identification of novels forms of inherited lymphoproliferation syndromes associated with a susceptibility to EBV infection
  • Novel genes identification in Bardet-Biedl Syndrome (BBS)
  • Pathogenic potential of R1_ truncated mutants found in severe forms of Carney complex
  • Predictive genetic testing in hereditary cardiac diseases: Evaluation of psycho-social impact and multidisciplinary management
  • 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
  • Professional career path in patients with rare hypersomnias
  • Proposal to create a mouse model of Epiphyseal, Vertebral, and Ear (EVE) dysplasia by generating Hspa9 knockout mice
  • Quality of life and caregiver burden in progressive supranuclear palsy
  • Quality of life and caregiver burden in progressive supranuclear palsy
  • Role of NADPH oxidase 1 in Xeroderma pigmentosum C
  • Role of the homologue of a human oligozoospermia factor gene, during mouse spermatogenesis
  • Search for a new locus involved in dominant cystic kidney disease
  • Search for active molecules on a cell model for Fragile X Syndrome by high throughput screening
  • Searching for C5b-9 antagonists by high-throughput screening of chemical libraries: Toward new treatment of membranous nephropathy
  • STRAD beta involvement in Peutz-Jeghers syndrome
  • Targeted region sequencing in hepatic failure of mitochondrial origin
  • Tetralogy of Fallot
  • TFIIH sequencing of a new TTD (trichothiodystrophy) phenotype
  • Towards the identification of novel genes involved in mitochondrial functions in genetically and biochemically informative patients
  • Unraveling the genetic basis of spondylocostal dysostosis
  • Whole-exome sequencing of a cohort of patients with inherited forms of zinc deficiency acrodermatitis enteropathica-like

2012

  • Announcement of a severe renal foetal pathology detected during pregnancy
  • Application of high throughput sequencing to the study of patients suffering from metabolic syndrome with an abnormal nuclear cell profile
  • Assessment of the impact of cognitive, executive and emotional abilities on the difficulties of adaptation and socialization of patients with Prader-Willi Syndrome (PWS)
  • Behavioural disorders in Huntington’s disease: Analysis and valorization of the expertise of the patients and their caregivers
  • Clinical and psychopathological approach of neuromuscular disease on gender identity
  • Craniosynostosis: how to improve the announcement of the diagnosis and support patients and their families?
  • Exome project in combined pituitary hormone deficiency study
  • Exome sequencing of one CDG Ix patient (congenital disorder of glycosylation type I) in a family with one healthy sibling
  • Exome sequencing of one CDG Ix patient (congenital disorder of glycosylation type I) presenting with a novel biochemical phenotype
  • Exome sequencing to identify genes associated with myoclonic astatic epilepsy
  • Genetic causes of very-early onset inflammatory bowel diseases
  • Genetic of macronodular adrenocortical hyperplasia
  • Hypoplastic Left Heart Syndrome (HLHS)
  • Identification of a disease-causing gene for IBMPFD / ALS (Inclusion Body Myositis,
  • Identification of a gene involved in a new syndrome associating lipodystrophy and leukodystrophy (LLD syndrome)
  • Identification of a gene involved in the enamel knot signaling centre and dental cusps morphogenesis and anomalies
  • Identification of a gene responsible for neonatal diabetes mellitus
  • Identification of a new gene responsible for idiopathic ventricular fibrillation associated with short-coupled variant of torsade de pointes
  • Identification of a novel gene responsible for lissencephaly type II in a consanguineous multiplex family
  • Identification of causative gene(s) in rare inherited microcytic anemias
  • Identification of congenital ataxias genes by exome sequencing
  • Identification of genetic factors involved in the pathophysiology of early-onset Systemic Lupus Erythematosus
  • Identification of new anophthalmic/microphthalmic genes by exome sequencing
  • Identification of new causes of hereditary macrothrombocytopenia
  • Identification of new genes involved in congenital hyperechogenic kidneys
  • Identification of new genes involved in neonatal epileptic encephalopathies associated with Rett-like features
  • Identification of new genes involved in subcortical band heterotopias
  • Identification of novel gene responsible for familial atrial fibrillation
  • Identification of novel genes implicated in different myopathies by exome sequencing
  • Identification of novel genes in autosomal dominant retinitis pigmentosa in three extensively pre-screened large families
  • Identification of postzygotic mutations in SACRAL/PELVIS syndrome
  • Identification of the causal gene of a rare syndrome comprising intellectual disability, glaucoma and spastic paraplegia
  • Identification of the gene for Pai syndrome through complete exome sequencing
  • Identification of the gene involved in a new form of syndromic recessive intellectual deficiency
  • Identification of the gene(s) implicated in OFD syndrome with median defects
  • Identification of the gene(s) responsible for dominant congenital diazoxide-responsive hyperinsulinism in a large family
  • Identification of the molecular bases of a rare neurocristopathy leading to congenital malformation and tumour predisposition
  • Identification of variants and genes involved in Gilles de la Tourette syndrome
  • Identification of vulnerability factors in the course of pemphigus patients
  • In search of new genes responsible for dystonia
  • Input of a multidisciplinary management approach in announcing the diagnosis for young children with serious constitutional haemorrhagic diseases and their families
  • Investigation of the genetic aetiology of oocyte maturation failure (OMF) by exome sequencing
  • Mitochondrial diseases with multiple respiratory chain deficiency: identification of new genes by exome sequencing
  • New genes for autosomal dominant optic atrophy
  • Paget disease and Fronto-temporal – Dementia/Amyotrophic Lateral Sclerosis)
  • Psychosocial consequences of screening for Von Hippel-Lindau disease in patients operated for an hemangioblastoma of the central nervous system
  • Search for the gene responsible for the hereditary neuropathy with thermosensitivity (complementary whole exome)
  • Sociological approach to lifestyle habits of adults with myotonic dystrophy type 1
  • Transition and insertion in the adult world of young people with sickle cells disease or cystic fibrosis
  • Whole exome sequencing in Köhlschutter-Tonz syndrome with probable autosomal dominant transmission