Telethon Foundation, Italy

2016

  • Characterization of recently identified gelsolin variants responsible for a novel renal amyloidosis and in silico screening of drug candidates
  • Chondrodysplasia with joint dislocations gPAPP type: insight on the molecular basis of the disorder and the role of IMPAD1 in post-natal skeletal development
  • Clinical efficacy of NIV and modafinil on excessive daytime sleepiness: a multicenter, randomized, double-blind, placebo-controlled clinical trial in DM1
  • Clinical network and Registry for Trial Readiness in Spinal and Bulbar Muscle Atrophy
  • Defining a role for GDD1/TMEM16E in the skeletal bone syndrome Gnathodiaphyseal Dysplasia
  • Defining the molecular pathogenesis of the ribosomopathy cartilage hair hypoplasia
  • Defining the role of the cellular prion protein at the intersection of several neurodegenerative diseases
  • Developing tools for trial readiness in primary mitochondrial myopathies of the adulthood
  • Development of in vivo therapeutic strategies for pain and pruritus in Olmsted syndrome
  • Elucidating the genetic heterogeneity of Zimmermann-Laband syndrome
  • Generation of a novel mouse model for SAM syndrome
  • Generation of an in vitro model to investigate replicative stress as the possible molecular mechanism underlying Schimke immunoosseous dysplasia
  • Investigating the contribution of the telomeric gene AKTIP in progeroid syndromes with unknown mutations
  • Long term natural history in Duchenne muscular dystrophy
  • Observational longitudinal study of growth patterns, body composition, energy expenditure and dietary intake in Italian infants and children with spinal muscular atrophy type I and II
  • Parkinson’s disease at the synaptic site: short and long term impact of pathological LRRK2 kinase activity
  • Rescue of Fanconi Bickel Syndrome by targeting glucose transport in the renal proximal tubule
  • Role of HDAC4 in muscular dystrophy and regeneration
  • Telethon Undiagnosed Disease Program – Revised Proposal
  • TTR-FAP Italian Registry: a collaborative network for definition of natural history, psychosocial burden, standards of care and clinical trials
  • Understanding the molecular mechanisms causing osteogenesis imperfecta type XIV due to loss-of-function in TMEM38B
  • USEFUL: User-centred assistive SystEm for arm Functions in neuromuscuLar subjects

 

2015

  • A Drosophila model for studying neurological defects associated with Congenital Disorder of Glycosylation type IIe (website)
  • A new exploitation of a tetracationic-porphyrin able to reduce PrPC and to inhibit PrPSc replication: characterization of the mechanism of action and preclinical studies in mouse models of genetic prion disease (website)
  • Analysis of neuronal alterations associated to PARK2 mutations and their rescue by genetic and pharmacological therapies targeting kainate receptors (website)
  • Bridging Timothy syndrome Cav1.2 calcium channel mutations (TS1 and TS2) to autism spectrum disorders (website)
  • Clinical, molecular and pathogenetic studies of Neutral Lipid Storage Disease (NLSD) (website)
  • Comprehensive analysis of the molecular pathogenesis of gyrate atrophy towards the rationalization and the optimization of the therapy with vitamin B6 (website)
  • Crosstalks between DNA damage response and retroelements activity in the pathogenesis of Aicardi-Goutières Syndrome (website)
  • Delineating the molecular pathway and pathogenic mechanism underlying autosomal dominant lateral temporal epilepsy (ADLTE) (website)
  • Discovering molecular defects of severe gut dysfunction: new abnormalities underlying Chronic Intestinal Pseudo-Obstruction (CIPO) (website)
  • Dissecting the molecular and cellular mechanisms of the MACS/RIN2 syndrome (website)
  • Drug testing for liver disease in alpha-1 antitrypsin deficiency by a large-scale patient-specific hiPS cells library (website)
  • Epigenetic and synaptic mechanisms affected in Fragile X Syndrome (website)
  • Exploring the pathogenetic Basis of ICF Syndrome With Human Induced Pluripotent Stem Cells (website)
  • Extending the Optic atrophy 1 dependent cristae remodeling: from models to a therapy of autosomal dominant optic atrophy
  • Fatal Familial Insomnia: preventive treatment with doxycycline of at risk individuals
  • Fibrous Dysplasia: A roadmap to treatment enabled by discovery of unpredicted mechanisms in first-in-class mouse models (website)
  • Functional and structural studies of human CLC chloride proteins involved in genetic diseases (website)
  • Gene therapy and long term evaluation of different dietary regimens in a Glycogen Storage Disease Type III KO mouse model (website)
  • Genetics, physiopathology and therapeutic options in a novel monogenic multisystem inflammatory disorder due to DNAse II deficiency (website)
  • Genotype-phenotype correlation for magnetic resonance imaging features of Mowat-Wilson syndrome with Zeb2 mutation/deletion; future discoveries of the role of the gene Zeb2 in the development of the human brain (website)
  • Genotype-phenotype correlations, novel pathogenetic mechanisms, and pilot clinical studies in neonatal epilepsies associated to mutations in the KCNQ2/3 potassium channel genes (website)
  • Identification of genes for Aicardi syndrome by exome sequencing (website)
  • Megalencephalic leukoencephalopathy with subcortical cysts: study of MLC molecular pathogenesis and identification of potential therapeutic targets using astrocytes derived from patient inducible pluripotent stem cells (website)
  • MitMed consortium: from the identification and characterization of nuclear genes responsible for human mitochondrial disorders towards potential therapeutic approaches in experimental models
  • Modulating Neuregulin-1 Signals to Treat Hereditary Demyelinating Neuropathies
  • Molecular and cellular underpinnings of the neurological phenotypes associated to mitochondrial citrate carrier (SLC25A1) deficiency (website)
  • Molecular bases of the Beckwith-Wiedemann Syndrome and Silver-Russell Syndrome (website)
  • Multipotent and pluripotent stem cells for the elucidation and therapy of skeletal disease in mucopolysaccharidoses (MPSs) (website)
  • Neurotrophic treatment to rescue synaptic plasticity and cognitive functions in a mouse model of Down Syndrome (website)
  • New treatment strategies for Fibrodysplasia Ossificans Progressiva (website)
  • NGS techniques to explore unusual TCF4 mutations and genetic heterogeneity in patients with Pitt-Hopkins syndrome phenotype (website)
  • Novel pharmacologic approaches to hepcidin genetic disorders (website)
  • Novel pharmacological approaches to increase ketone bodies availability in GLUT1 Deficiency Syndrome (website)
  • Oxidative stress and Cerebral Cavernous Malformations (CCM): from disease mechanisms toward prevention and treatment (website)
  • Patient-specific cellular models for Spinal Muscular Atrophy with progressive Myoclonic Epilepsy: from pathogenesis to therapeutics development for a neglected neurological disorder (website)
  • Phenotypic rescue of the DiGeorge syndrome phenotype in mouse models (website)
  • Plasmacytoid dendritc cells functions and autoimmunity in Wiskott-Aldrich syndrome (website)
  • Platelet type-Von Willebrand disease: a rare, under-diagnosed, inherited bleeding disorder. Studies to improve the diagnosis and to understand the mechanisms of platelet dysfunction and macrothrombocytopenia (website)
  • Potential therapeutic effect of beta3-adrenergic receptor agonists on X-linked Nephrogenic Diabetes Insipidus (website)
  • Proteostasis in the early secretory compartment as a pathogenetic mechanism and therapeutic target
  • RNA therapeutics for Friedreich’s Ataxia (website)
  • Role of ANO10 in Spinocerebellar Ataxia (website)
  • Role of unprenylated 2’,3’-cyclic-nucleotide 3’-phosphodiesterase in the molecular mechanisms responsible for neuroinflammation and neurological impairments in mevalonate kinase deficiency (website)
  • Small molecules to rescue folding-defective sarcoglycans: in vivo assessment of novel therapeutic strategies (website)
  • Structural and functional studies of HCN1 channel mutations causing early infantile epileptic encephalopathy (website)
  • The chromatin basis of neurologic dysfunction in the SWI/SNF-related autism syndrome (website)
  • The HSPB2-HSPB3 complex: unraveling new functions that affect nuclear homeostasis and their implication in neuromuscular and muscular diseases (website)
  • Therapeutic potential of ceruloplasmin administration in aceruloplasminemia (website)
  • Therapeutic Strategies for CDKL5 Disorder (website)
  • Understanding and correcting SETD5 haploinsufficiency leading to intellectual disability (website)
  • X-linked Chronic Granulomatosis: molecular and cellular mechanisms underlying intestinal inflammation (website)

 

2014

  • A mitochondrial therapy for muscular dystrophies (website)
  • A novel strategy to deliver glucose to the brain under conditions of glucose transporter deficiency (website)
  • Brain mapping of the cortical representation of facial movements in patients with congenital facial palsy undergoing surgical procedures of facial animation (website)
  • Building a Nation-wide Italian collaborative network for muscle glycogenoses: registry and natural history (website)
  • Cell therapy for Crigler-Najjar type I syndrome using human adult liver stem cells (website)
  • Cellular and animal models of CLOVES syndrome (website)
  • CMT National Registry: towards definition of standards of care and clinical trials (website)
  • Complete molecular characterization of patients affected by congenital muscular dystrophies with alpha-dystroglycan defect using next generation sequencing strategies (website)
  • Cryopyrin associated periodic syndromes (CAPS): investigations on patients blood cells and in a knock-in mouse model to exploit novel approaches for the modulation of the NLRP3 inflammasome (website)
  • Dechipering the mechanism of immune dysfunction in Vici syndrome (website)
  • Determinants of neurodegeneration in Ataxia Telangiectasia (website)
  • Developing peptides pharmacologically active for the most frequent Wilson disease-causing ATP7B mutant (website)
  • Development and implant of the photovoltaic artificial retina in the pig with photoreceptor degeneration: towards the human Phase-1 experimentation (website)
  • Development of a RNA-based therapeutic approach for Hemophilia B caused by exon-skipping mutations (website)
  • Development of an in vitro disease model system for dissecting the epigenetic mechanisms underlying pathogenesis of Kabuki syndrome (website)
  • Development of an Italian Clinical Network for Spinal Muscular Atrophy (website)
  • Disease gene identification in non-photosensitive trichothiodystrophy by exome sequencing (website)
  • Dissecting the Aristaless-related Homeobox Epilepsy path to find druggable target molecules (website)
  • Dissecting The Molecular Function Of Mutant Huntingtin With Stem Cells (website)
  • Drosophila melanogaster as a model to study the role of the Fragile X Mental Retardation Protein in the genome stability pathway mediated by piRNAs (website)
  • Evaluating the role of ubiquitin and endocytosis in Gitelman syndrome (website)
  • Exploring PEDF as therapeutic agent for retinitis pigmentosa (website)
  • Familial ß2-microglobulin amyloidosis: from the elucidation of the pathogenic mechanism to the discovery of novel effective drugs
    (website)
  • Familial hemiplegic migraine mechanisms (website)
  • FSHD Muscular Dystrophy Provides a Molecular Understanding of the Repetitive (epi) Genome (website)
  • Functional role of Ezh2 mutations in Weaver Syndrome (website)
  • Generation of animal models to define molecular mechanisms and novel therapeutic strategies for Familial Primary Localized Cutaneous Amyloidosis (website)
  • Identification of new therapeutic agents for the treatment of Glycogenosis type 2 due to the common splicing mutation c.-32-13T>G (website)
  • Identification of novel gene(s) associated with Crisponi/Cold Induced Sweating syndrome-like phenotypes by whole-exome sequencing (website)
  • Improving MC4R signaling via isoform selective PI3K targeting to fight melanocortin obesity syndrome (website)
  • In vitro feasibility study of a protein replacement therapy for methylmalonic acidemia with homocystinuria CblC type: delivery of recombinant human MMACHC proteins into primary fibroblasts from CblC patients (website)
  • In-depth phenotyping and experimental therapy of autosomal dominant osteopetrosis (website)
  • Innovative therapeutic strategy for Duchenne Muscular Dystrophy by AAV mediated delivery of artificial transcription factor genes (website)
  • Installing FVIII-specific tolerance in hemophilia A via tryptophan catabolites and aryl hydrocarbon receptor (AhR) activation (website)
  • Investigation of the molecular basis of Posterior Colum Ataxia and Retinitis Pigmentosa (website)
  • JP45 a functional modifier in ryanodinopathies (website)
  • Manipulating Autophagy in Muscle Diseases (website)
  • MitCare-2 (website)
  • Molecular mechanisms of pathogenesis and preclinical treatment in renal disorders associated with uromodulin mutations (website)
  • Motor neuron degeneration in Spinal and Bulbar Muscular Atrophy: molecular approaches to counteract mutant androgen receptor neurotoxicity (website)
  • Neurodevelopmental alterations in Weaver syndrome: a cell reprogramming-based approach to the elucidation of epigenetic disease mechanisms (website)
  • New strategies to target hyper-excitability in Rett syndrome (website)
  • Novel therapeutic interventions for cerebral cavernous malformations (website)
  • Peptide-conjugated Morpholino for treatment of Spinal Muscular Atrophy (website)
  • Phenotypic and molecular characterization of FSHD families: a systematic approach towards trial readiness (website)
  • Preclinical evaluation of pharmacogenetics and new therapeutic options in nondystrophic myotonias toward personalized medicine (website)
  • Protein misfolding in Charcot-Marie-Tooth disease: towards the development of a therapeutic strategy targeting the Unfolded Protein Response (website)
  • Regulation of SMN2 splicing in cell and mouse models of Spinal Muscular Atrophy (website)
  • Renal Disease In Genetic Lcat Deficiency: From Pathogenesis To Therapy (website)
  • Role of Prostaglandin D2 Synthase in PNS Myelination and Remyelination (website)
  • Role of the putative endosomal Na+/H+ antiporter NHE6 in Angelman-like syndrome and other forms of X-linked mental retardation syndromes (website)
  • SAMHD1, a new regulator of DNA replication involved in Aicardi-GoutiŠres syndrome (website)
  • Skeletal muscle and circulating microRNAs in Myotonic Dystrophy Type 1 (website)
  • The metabolic abnormality of Hereditary Hemochromatosis:   mechanisms and consequences of hepcidin deficiency on glucose homeostasis and insulin signaling (website)
  • Transcriptional and epigenetic dysfunction in Williams Beuren and 7q11.23 microduplication syndromes (website)
  • Translating molecular pathology into a therapeutic strategy in SCA38, a newly identified form of spinocerebellar ataxia (website)
  • Understanding the genetic basis of Acrofrontofacionasal Dysostosis 1 (website)
  • Validation of the human delta globin gene as a therapeutic target for Beta Thalassemia and Sickle Cell Disease (website)

 

2013

  • A Drosophila model for CEDNIK syndrome (website)
  • A Drosophila model for Spinal Muscular Atrophy (SMA): identification and characterization of Smn interactors and phenotypic modifiers (website)
  • A novel AID structure providing new insight into HIGM2 (website)
  • Activation of serotonin type 7 (5-HT7) receptors as a novel therapeutic strategy in Fragile X Syndrome (website)
  • Altered calcium handling in Central Core Disease and Malignant Hyperthermia: understand molecular mechanisms and genetic background to develop innovative therapeutic interventions (website)
  • An integrated strategy to functionally dissect the genetic and epigenetic mechanisms underlying Kabuki Syndrome (website)
  • Analysis of lyn core signaling machinery in neuroacanthocytosis (website)
  • Arterial Tortuosity Syndrome: a vitamin C compartmentation disease? (website)
  • CFTR-Deficiency causes a dysregulation in toll-like receptor-mediated innate immune responses: pathogenetic and therapeutic implications for cystic fibrosis-related liver disease
  • Clinical, genetic and functional studies on Joubert syndrome and related disorders: a model to understand the complexity of ciliopathies (website)
  • Combining next generation sequencing with clinical studies to unravel novel inherited thrombocytopenias affecting half of the patients (website)
  • Development of an in vitro disease model system for dissecting the epigenetic mechanisms underlying pathogenesis of Kabuki syndrome (website)
  • Development of an uricolytic treatment for HPRT-deficiency in animal models (website)
  • Dechipering the mechanism of immune dysfunction in Vici syndrome (website)
  • Dissecting the molecular basis of SEPN1-related-myopathies (website)
  • Engineered T regulatory cells to control the immune-inflammatory response and the accelerated onset of atherosclerosis in familial hypercholesterolemia (website)
  • Enlightening molecular mechanisms of abnormal cerebellum development in mouse models of human Niemann-Pick C 1 disease: the efficacy of hydroxypropyl-betacyclodextrin in correcting the phenotype (website)
  • Epigenetic therapy to abrogate myostatin signalling in Duchenne Muscular Dystrophy (website)
  • Evaluating the role of ubiquitin and endocytosis in Gitelman syndrome (website)
  • Exploiting neural stem cell-targeted mouse models for improving the understanding of the pathogenetic mechanisms underlying Tuberous Sclerosis Complex and developing novel therapeutic approaches (website)
  • Gain-of-function mutations of the V2 vasopressin receptor in nephrogenic syndrome of inappropriate antidiuresis (NSIAD): molecular characterization and in silico identification of potential therapeutic agents (website)
  • Genetic diseases of mitochondrial shape: integrated approaches to understand pathogenesis and establish treatments (website)
  • Hypertrophic cardiomyopathy caused by mutations in the thin filament regulatory proteins of the sarcomere (website)
  • Identification of molecular targets for the treatment of the skeletal phenotype in Lysosomal Storage Disorders (website)
  • In-depth clinical and genetic study of familial and sporadic patients with Nocturnal Frontal Lobe Epilepsy (NFLE): identification of new genes by WES in 192 cases negative for mutations in the neuronal nicotinic acetylcholine receptor subunits genes (website)
  • Inner ear connexins: role in hearing acquisition and DFNB1 pathophysiology (website)
  • Isolated domains of aminoacyl tRNA syntethases as a novel therapeutic tool for mt tRNA mutation associated disease (website)
  • Investigation of the molecular basis of Posterior Colum Ataxia and Retinitis Pigmentosa (website)
  • Modelling etiopathogenesis of the Foxg1-linked variant of West syndrome (website)
  • Modulation of dystrophic microenvironment to improve stem cell-mediated therapy (website)
  • Molecular bases of Noonan Syndrome and related disorders (website)
  • Neurodevelopmental alterations in Weaver syndrome: a cell reprogramming-based approach to the elucidation of epigenetic disease mechanisms (website)
  • New approaches to the molecular pathogenesis of CCHS: implications for therapeutic strategies (website)
  • Pathogenesis of primary and secondary Coenzyme Q deficiency (website)
  • Post GWAS functional characterization of BCL11A locus toward the development of a treatment for á-thalassemia (website)
  • Protein kinase C Theta as a novel molecular target to counteract inflammation in Muscular Dystrophy (website)
  • Purkinje cell degeneration in Marinesco-Sjogren syndrome: role of cell stress, alterations of proteostasis and calcium homeostasis (website)
  • Relevance of the axonal SMN protein (a-SMN) for Spinal Muscular Atrophy: novel cell models, transgenic mice and therapeutic approaches (website)
  • Rescue of Diamond-Blackfan Anemia haploinsufficiency by knock-up of the deficient protein (website)
  • Ring 14 syndrome: toward a detailed genotype-phenotype correlation (website)
  • Role of ADAM10 in Huntington’s Disease (website)
  • Role of SAP-mediated inhibition of DGKa in regulating restimulation induced cell death (RICD): does DGKa targeting rescue RICD in XLP patients? (website)
  • Role of the novel presynaptic protein PRRT2 in neuronal physiology and in the pathogenesis of paroxysmal neurological disorders (website)
  • Role of the putative endosomal Na+/H+ antiporter NHE6 in Angelman-like syndrome and other forms of X-linked mental retardation syndromes (website)
  • Semaphorin3E and CHD7 signalling pathways in the control of olfaction and reproduction: link for Kallmann and CHARGE syndromes? (website)
  • Structural and functional analysis of selected connexin32 mutations implicated in the pathogenesis of the X-linked form of Charcot-Marie-Tooth disease
  • Targeting ER stress to treat osteogenesis imperfect (website)
  • Telethon Network of Genetic Biobanks (website)
  • Thalidomide for the treatment of severe recurrent epistaxis in hereditary hemorrhagic telangiectasia: clinical trial on the efficacy of oral administration and “in vitro” study of a new drug formulation for a topical effect (website)
  • Translating current and new knowledge on the developmental function of p63 into restoring normal development in models of organ culture and in vivo (website)
  • Understanding ATM dependent control of cellular metabolism (website)
  • Unravelling the Rett syndrome: effects of MeCP2 mutations on synaptic function (website)

 

2012

  • Analysis of neuronal alterations associated to TM4SF2 mutations and their rescue by genetic and pharmacological therapies (website)
  • Analysis of RAB39B role in X-linked Intellectual Disability: AMPA receptors as possible therapeutic targets (website)
  • Assessement of the pathogenic role of a missense variant in a benign autossomal dominant myopathy with hyperCKaemia (website)
  • Assessment of upper limb function in non ambulant Duchenne muscular dystrophy (website)
  • Calcium dysregulation and oxidative stress: from molecular mechanisms to therapeutic implications in Hailey-Hailey diseas (website)
  • Cellular models to identify the mechanisms underlying the chromosome abnormalities of cohesinopathy patients (website)
  • CFTR-Deficiency causes a dysregulation in toll-like receptor-mediated innate immune responses: pathogenetic and therapeutic implications for cystic fibrosis-related liver disease (website)
  • Characterization of the R7S mutation of Heat Shock Protein HSPB3 and of two novel mutations found in patients suffering of congenital myopathy: understanding the mechanisms leading to disease (website)
  • Control of ATM activity by DICER and DROSHA RNA products (website)
  • Development and application of opto-neural prosthetic devices as a therapeutic approach for Retinitis pigmentosa (website)
  • Development of a registry and a database for a nation-wide Italian collaborative network on congenital muscular dystrophy (website)
  • Development of the Italian National Registry for FSHD (website)
  • Dissecting the molecular mechanisms underlying epidermal defects in AEC syndrome (website)
  • Drug discovery for dystroglycanopathies via LARGE promoter activation screening (website)
  • Evaluation of bone turnover, bone metabolism, bone density, and fractures in children with Duchenne Muscular Dystrophy and possible side effects of long-term corticosteroid therapy (BON-DMD) (website)
  • Exploring mitochondrial dysfunction in calpain-3 related muscular dystrophy (website)
  • Extending the Optic atrophy 1 dependent cristae remodeling: from models to a rationale for therapy of autosomal dominant optic atrophy (website)
  • Extracellular adenosine-triphosphate (e-ATP) and purinergic signalling in the pathogenesis of alpha-sarcoglycan deficient muscular dystrophy (LGMD2D) (website)
  • FSHD muscular dystrophy: molecular pathogenesis and prospects for therapy (website)
  • Function and dysfunction of the Parkinson’s disease kinase LRRK2 at the pre-synaptic site (website)
  • Genetic diagnosis of Italian LGMD patients by NGS technology (website)
  • Hemochromatosis: from genes to clinics and back (website)
  • Identification and functional characterization of molecular targets of the Sox2 transcription factor in human inherited brain disease: an approach through Sox2 conditional knockout in mouse (website)
  • Identification of novel genes for autosomal dominant lateral temporal epilepsy in families without LGI1 mutations (website)
  • Identification of the gene determining Limb Girdle Muscular Dystrophy type 1H (website)
  • Identification of the gene responsible for a new form of distal myopathy (website)
  • Identification of the gene responsible for an autosomal dominant form of Common Variable Immunodeficiency (website)
  • Identification of therapeutic targets in primary microcephaly through the analysis of the CIT-K/ASPM pathway (website)
  • Impact of reduced glial-derived cholesterol in Huntington’s disease (website)
  • Improving the diagnostic accuracy of a neonatal screening protocol for Cystic Fibrosis: choice of the optimal thresholds for the blood level of immunoreactive trypsin (IRT) (website)
  • Is the limb-girdle muscular dystrophy type 2H a defective autophagy disease? (website)
  • Low-protein diet to correct defective autophagy in patients with collagen VI related myopathies (website)
  • Melusin gene therapy: a possible approach to prevent cardiomyopathy (website)
  • Mesenchymal Stem Cell Transplantation as a therapeutic approach to RANKL-dependent Osteopetrosis (website)
  • Mitochondrial dynamics and calcium homeostasis at the crossroad of the AFG3L2-associated pathway to cerebellar degeneration. From molecular hypothesis to preclinical treatment (website)
  • Model systems to identify genes and factors in the signal transduction pathway defective in Ataxia telangiectasia patients (website)
  • Molecular mechanisms of transport, small ligand modulation, and subunit interaction of chloride transporting CLC proteins involved in human genetic diseases (website)
  • Muscular miRNome and transcriptome analysis as a tool for the identification of biomarkers in spinal muscular atrophy (website)
  • Mutant prion protein impairs delivery of voltage gated calcium channels to the presynaptic membrane: mechanisms of neurotoxicity and potential therapeutic strategies (website)
  • Myopalladin in Dilated Cardiomyopathy and Limb Girdle Muscular Dystrophy (website)
  • New pharmacological targets in Fanconi Anemia (website)
  • Novel structure-guided therapeutic approaches for oculopharyngeal muscular dystrophy (OPMD) and related diseases (website)
  • Oxytocin analogs in Prader-Willi syndrome: new tools to investigate and treat social and cognitive autistic-like symptoms (website)
  • Peroxisomal Enzyme Deficiencies in Rhizomelic Chondrodysplasia Punctata: Biochemistry and Therapeutic Avenues (website)
  • Pharmacological chaperones to cure genetic diseases: development of drugs and identification of new targets (website)
  • Pharmacological rescue of misfolded proteins: innovative approaches for the cure of three muscular diseases (website)
  • Phospholipid metabolism and membrane trafficking in the pathogenesis of Charcot-Marie-Tooth neuropathies (website)
  • PINK1, mutated in autosomal recessive Parkinson’ s disease, interacts with the proautophagic protein Beclin1 and its antiapoptotic partner Bcl-xL: unraveling the significance of these interactions at the crossroad of multiple neuroprotective pathways (website)
  • Preventive therapy of mental retardation in Down syndrome by a novel gamma-secretase inhibitor: focus on APP-dependent mechanisms in neurodevelopment (website)
  • Role of dysregulated astrocyte-GABAergic interneuron interactions in the control of seizures in monogenic models of epilepsy (website)
  • Role of Jab1 in the control of nerve development and repair: implication in the pathogenesis of Merosin Deficient Congenital Muscular Dystrophy (MDC1A)-associated hereditary neuropathies (website)
  • Role of purinergic receptors in myelination: therapeutic implications for treatment of the peripheral neurophaty Charcot-Marie-Tooth 1A (website)
  • Role of Rho family GTPases during neuronal development (website)
  • Spinocerebellar ataxia type 28: cellular and animal models to unravel the pathogenesis and to identify potential therapeutic targets (website)
  • Statins as potential therapeutic agents for handling Nephrogenic Diabetes Insipidus (website)
  • Structural and functional analysis of selected connexin32 mutations implicated in the pathogenesis of the X-linked form of Charcot-Marie-Tooth disease (website)
  • TGFbeta1 in Huntington Disease: a new disease mechanism and potential biomarker (website)
  • The Heme-oxygenase 1 (HO-1) as modulator of Cystic Fibrosis lung disease (website)
  • The Role of Inositol 1,4,5-trisphosphate Mediated Nuclear Ca2+ Signals In Core Myopathies (website)
  • The role of neuronal nicotinic receptors in the pathogenesis of autosomal dominant nocturnal frontal lobe epilepsy: a study on wild-type and conditional transgenic mice expressing the beta2-V287L subunit (website)
  • Therapeutic strategies to ameliorate heme-driven tissue oxidative injury in sickle cell anemia (website)
  • Towards the Comprehension of Polycystin-1 Function and Identification of Specific Targets for Therapy in ADPKD
  • Uncovering the molecular pathology of Werner syndrome: analysis of the functional relationship between ATR-related WRN function, replication stress and premature cellular senescence (website)
  • Understanding XY chromosome segregation defects in mammals: new insights from the regulation of expression and function of SPO11 splice isoforms (website)

 

2011

  • A microRNA dimmer switch for hematopoietic stem cell gene therapy (website)
  • A Novel Therapeutic Strategy Targeting Photoreceptor Oxidative Damage in ABCR-related Retinal Degenerations: An Experimental and Clinical Study (website)
  • A pharmacological approach to RANKL-dependent osteoclast-poor Autosomal Recessive Osteopetrosis (website)
  • Cell Therapy of Duchenne Muscular Dystrophy by Intra-Arterial Delivery of HLA-Identical Allogeneic Mesoangioblasts (website)
  • Cell therapy strategies for tolerance induction in humans (website)
  • Cell/gene transfer based therapies for IPEX Syndrome and FOXP3-gene independent diseases with immune dysregulation (website)
  • Cellular and Molecular Mechanisms Underlying Autoimmune Manifestations in Wiskott Aldrich Syndrome (website)
  • Cilia and human diseases: insights from the OFD type I syndrome (website)
  • Clinical and laboratory network for LGMD diagnosis, in view of a national registry (website)
  • Clinical trial of  Hematopoietic Stem Cell Gene Therapy for Wiskott-Aldrich Syndrome (website)
  • CNS-directed gene/cell therapy of LSDs (website)
  • Defining the cellular and molecular basis of the Spondyloepiphyseal Dysplasia Tarda and identification of targets for pharmacological intervention (website)
  • Developing a rational basis for pharmacological correction of the D508-CFTR folding trafficking defects (website)
  • Development of an Instrumented Movement Analysis protocol for the multitasking analysis of locomotor functions in adult and young patients with Charcot-Marie-Tooth disease: multicenter study to characterise reliability and responsiveness (website)
  • Dissecting the molecular basis of neurodegeneration in Cockayne syndrome (website)
  • Dissecting the molecular mechanisms underlying endocytic dysfunctions induced by mutations in OCRL and CLC5 to identify correctors for Lowe syndrome and Dent disease (website)
  • Dissection of Cellular and Molecular Mechanisms Underlying Autoimmunity in Omenn Syndrome (website)
  • Efficacy and Safety of Transcriptional Repressors as Biotherapeutics for the Treatment of Autosmal Dominant Retinitis Pigmentosa (ADRP) (website)
  • Gene therapy for betathal
  • Gene therapy for Chronic Granulomatous Disease (website)
  • Gene Therapy for Inborn Errors of Hepatocyte Metabolism (website)
  • Gene therapy for severe combined immunodeficiency due to adenosine deaminase deficiency (ADA-SCID) (website)
  • Gene therapy strategies for Antigen-specific tolerance induction in vivo (website)
  • Genetic basis of steroid resistant nephrotic syndrome and implications for therapy (website)
  • Growth disorders and genomic imprinting: genetic defects and molecular mechanisms (website)
  • Hematopoietic stem cell gene therapy for the treatement of globoid cell leukodystrophy (website)
  • Hematopoietic stem cell gene therapy for the treatment of type I mucopolysaccharidosis (website)
  • Homopolymeric alanine repeats: structure, function, and mechanistic role in the pathogenesis of polyalanine expansion genetic diseases (website)
  • HSC Gene Therapy for LSDs: Understanding the Modalities of Cell Replacement in the LSD Brain for Improving Therapeutic Efficacy (website)
  • Identification of neuronal alterations underlying SHANK3 mutations and their rescue by genetic/pharmacological therapies in animal models and patients’ derived iPS cells (website)
  • Identification of new genes associated to familial idiopathic steroid-resistant nephrotic syndrome (website)
  • Identification of Recessive Genes Causative for Parkinson’s Disease using Exome Sequencing (website)
  • Identification of therapeutic targets in primary microcephaly through the analysis of the CIT-K/ASPM pathway (website)
  • Improving Safety of Lentiviral Gene Transfer (website)
  • Increasing Clonal Diversity of Genetically Modified HSC (website)
  • Integrated in silico, in vitro, and in vivo studies towards the design of molecules with therapeutic potential for Retinitis Pigmentosa (website)
  • Integration core: integration site analysis in a clinical trial of lentiviral vector based hematopoietic stem cell gene therapy for metachromatic leukodystrophy (website)
  • Investigating new therapeutic approaches to Friedreich’s Ataxia (website)
  • Liver gene transfer and hemophilia gene therapy (website)
  • Loss of central and peripheral tolerance mechanisms leading to autoimmune manifestations in ADA-deficient SCID (website)
  • Mechanisms underlying altered GABAergic signaling in the hippocampus of transgenic mice carrying the human R451C mutation of the NLG3 gene: an animal model of autism (website)
  • MicroRNA-Regulated Gene Networks in the Retina (website)
  • MitMed: a multicenter consortium for the identification and characterization of nuclear genes responsible for human mitochondrial disorders (website)
  • Mitochondrial aspartate/glutamate carrier 1 deficiency: pathogenetic mechanisms and mutational analysis (website)
  • Models of atlastin function and dysfunction (website)
  • Modifying Lysosomal Enzymes to Improve Secretion and Brain Delivery [SuRE] (website)
  • Modulation of Cellular Clearance in Lysosomal Storage Disorders (website)
  • Modulation of Eukaryotic Initiation Factor 6 Activity as a Therapeutic Tool in Ribosome-Based Disease (website)
  • Molecular bases and in vitro modeling of Cdkl5 dependent infantile neurological disorders (website)
  • Molecular mechanisms underlying brain alterations in the CDKL5 variant of Rett’s syndrome (website)
  • Mutations of cardiac calsequestrin and cardiac arrhythmias: novel insights on pathogenesis and therapy (website)
  • Novel optogenetic approach to investigate arrhythmogenesis in dominant catecholaminergic polymorphic ventricular tachycardia (CPVT) (website)
  • Novel outcome measures for Charcot-Marie-Tooth disease (website)
  • Omics-based approaches for the identification of novel inherited non-syndromic sensorineural hearing loss-related genes (website)
  • Overcoming the Challenge of Large Gene Transfer for the Therapy of Inherited Photoreceptor Diseases (website)
  • Pathogenesis of Wilson Disease: Molecular mechanisms of ATP7B trafficking in the maintenance of copper homeostasis (website)
  • Phase I/II clinical trial of hematopoietic stem cell gene therapy for the treatment of metachromatic leukodystrophy (website)
  • Phenotypic variability and gene haploinsufficiency (website)
  • Preclinical safety evaluation of gene therapy medicinal products: tumorigenicity and toxicology study for beta-thalassemia gene therapy clinical trial (website)
  • Proteostasis in the early secretory compartment as a pathogenetic mechanism and therapeutic target (website)
  • RNA-based gene therapy of Duchenne Muscular Dystrophy: role of miRNA deregulation in the pathogenesis of DMD and  their possible use for improving the exon skipping strategy (website)
  • Role of astrocytic inwardly-rectifying K+ channels in the pathogenesis of Autism Spectrum Disorders with susceptibility to seizures (Autism-Epilepsy Phenotype) (website)
  • Role of oligophrenin-1 in circuit formation and function in a mouse model of X-linked mental retardation (website)
  • Role of the Epigenome and noncoding Genome in Duchenne Muscle Dystrophy (website)
  • Severe Combined Immunodeficiency due to ADA deficiency (website)
  • Site specific integration and gene correction (website)
  • Small Molecule-Based Therapies with for Lysosomal Storage Diseases (website)
  • Study of improving Safety of Lentiviral Gene Transfer (website)
  • Systematic gene hunting for nuclear modifiers in Leber’s hereditary optic neuropathy and their validation in model systems (website)
  • Study of improving Safety of Lentiviral Gene Transfer (website)
  • The families of children with muscular dystrophies: burden, social network and professional support (website)
  • The functional role of the Calcium Activated Nucleotidase 1 (CANT1) gene in the skeleton: an in vivo study with a mouse model of Desbuquois dysplasia (website)
  • The intracellular control of Thyroid hormone signaling in muscle stem cells and in Duchenne Muscular Dystrophy (website)
  • The intraflagellar transport system, a novel regulator of immune synapse assembly: functional dissection in T-cell antigen receptor trafficking and assessment as disease target in common variable immunodeficiency (website)
  • The P2X7 receptor/adenosine-generation system: a novel target for the therapy of autoinflammatory diseases (website)
  • The role of iron and mitochondria in the pathogenesis of Pantothenate Kinase Associated Neurodegeneration (PKAN): development of new neuronal cellular systems and analysis of a mouse model (website)
  • The role of neuroserpin in Familial Encephalopathy with Neuroserpin Inclusion Bodies (FENIB) (website)
  • The role of RNaseH2 in the pathogenesis of Aicardi-Goutieres syndrome (website)
  • Toward a mitochondrial therapy of collagen VI muscular dystrophies (website)
  • Towards an NGF-based therapy for Hereditary Sensory and Autonomic Neuropathies IV and V (website)
  • Towards better AAV gene therapy: whole genome siRNA and microRNA high throughput screening for the identification of the molecular determinants governing AAV vector transduction, vector production and vector-induced gene correction (website)
  • Towards Clinical Trials for AAV-Mediated Eye – and liver – Directed Gene Therapy (website)
  • Tracking and Modeling of HSC Clonal Dynamics by Vector Marking (website)
  • Translating current and new knowledge on the developmental functions of p63 into restoring normal development in models of organ culture and in vivo (website)
  • Treat-nmd Outcome Measures (website)
  • Understanding the WHIM syndrome: molecular analysis of CXCR4 functions in leukocyte trafficking and activation (website)
  • Vector Safety Studies (website)

 

2010

  • A link between Toll-like Receptor signaling in dendritic cells and autoimmune manifestations in Wiskott-Aldrich syndrome (website)
  • A Multicenter Study To Evaluate The Effects On Charcot-Marie-Tooth Neuropathy Type 1a Of A Composite Treadmill, Stretching And Proprioceptive Exercise (Trespe) Rehabilitation Program (website)
  • A new gene for inherited thrombocytopenias: clinical, pathogenetic and pharmacological studies (website)
  • A Safety and Efficacy Study in Subjects with Leber Congenital Amaurosis (LCA) Using Adeno-Associated Viral Vector to Deliver the Gene for Human RPE65 to the Retinal Pigment Epithelium (RPE) [AAV2-hRPE65v2-301]: treatment and follow up of 3 Italian patients (website)
  • ADA-GT Development: characterization of MCB AM12/GIADA32 cell line and subclones (website)
  • Animal models of neuroferritinopathies for the study of the role of iron in neurodegeneration (website)
  • Bad gene, good gene: a recessive APP mutation can be both. New therapeutic perspective for Alzheimer’s disease based on an Abeta variant with dominant-negative effect on amyloidogenesis (website)
  • Cell Line And Dna Bank Of Paediatric Movement Disorders (website)
  • Clinical, neuroradiological and molecular investigation of Adult-onset Autosomal Dominant LeukoDystrophy (ADLD): dissection of Lamin B1-mediated pathophysiological mechanisms in cellular and mouse models (website)
  • Combined enzyme enhancement therapy (EET) and enzyme replacement therapy (ERT) in patients with Pompe disease (website)
  • Construction of a database for a nation-wide italian collaborative network of mitochondrial diseases (website)
  • Defining the molecular signature of muscle wasting. Identification of therapeutic targets to counterat muscle degeneration (website)
  • Determination of the function of the Angelman Syndrome UBE3A Ubiquitin Ligase (website)
  • Development of a therapeutic approach for Spinal Muscular Atrophy with Respiratory Distress (SMARD1) using human induced pluripotent stem cell-derived neural stem cells and motor neurons  (website)
  • Development of new strategies for the treatment of Primary Hyperoxaluria Type I (website)
  • Experimental gene therapy of Duchenne Muscular Dystrophy by artificial transcription factors upregulating the dystrophin-related gene Utrophin (website)
  • Fatal familial insomnia: preventive treatment with doxycycline of at risk individuals (website)
  • Functional, Behavioral And Genetic Study To Understand The Pathogenetic Role Of Rab And Rab-Associated Proteins In Human Mental Retardation (website)
  • Hemoglobin Production in Betal-Thalassemia Erythroid Cells Following Alteration of Biomolecular Pathways Regulating Globin Gene Expression (website)
  • Hereditary chloride channelopathies of skeletal muscle and kidney: From genotype to phenotype and novel pharmacotherapeutical approaches (website)
  • Identification of genetic, electroanatomical and structural predictors of malignant ventricular arrhythmias in patients with Brugada syndrome (website)
  • Identification of new disease-causing genes in hereditary spastic paraplegia (website)
  • Identification of Novel Strategies to Correct the Chloride Transport Defect (website)
  • Identification of the mechanisms leading to defective platelet function and impaired megathrombocytopoiesis in a novel Glanzmann’s variant hereditary macrothrombocytopenia (D673-E712del) (website)
  • Improving the diagnostic accuracy of a neonatal screening protocol for Cystic Fibrosis: choice of the optimal thresholds for the blood level of immunoreactive trypsin (IRT) (website)
  • Inherited defects in DNA damage signaling causing neuronal degeneration: understanding the mechanisms (website)
  • Insulin-like growth factor 1/Akt and androgen signaling crosstalk in the pathogenesis of spinal and bulbar muscular atrophy (website)
  • Interneuronal dysfunction in genetic epilepsies: insights from a mouse model of severe myoclonic epilepsy of infancy (SMEI) (website)
  • Mechanisms of reactivation of the FMR1 gene and analysis of pathways involved in the pathogenesis of fragile X syndrome: towards a drug-based therapy (website)
  • MeCP2 phosphorylation and related kinases in Rett syndrome and early infantile epileptic encephalopathy 2 (website)
  • Modulating Neuregulin-1 Signals to Treat Hereditary Demyelinating Neuropathies (website)
  • Molecular Bases of Noonan Syndrome and Related Disorders (website)
  • Molecular functions of Ubiad1, a gene product associated to Schnyder Crystalline Corneal Dystrophy (website)
  • Naples Human Mutation Gene Biobank (Nhmgbb): A Data And Samples Resource Of Neuromuscular Disorders For A Worldwide Collaboration (website)
  • New diagnostic and therapeutic approaches for the Crigler-Najjar Syndrome Type I (website)
  • Novel strategies to cure hereditary hemochromatosis through modulation of the BMP/SMAD pathway regulating the iron hormone hepcidin (website)
  • Outcome measures in Duchenne muscular dystrophy: validation of the pediatric quality of life inventorytm neuromuscular module in the Italian population and correlation with other functional assessments (website)
  • Pathogenetic mechanisms of familial Parkinson’s disease: wt and A30P alpha-synucleins affect the structure of microfilaments and intermediate filaments. Pathways and effects on cytoskeletal dynamics (website)
  • Peripheral blood gene expression profiling of LRRK2 and Parkin monogenic forms of Parkinson’s disease for disease assessment (website)
  • PINK1, mutated in autosomal recessive Parkinson’s disease, interacts with the proautophagic protein Beclin1 and its antiapoptotic partner Bcl-xL: unraveling the significance of these interactions at the crossroad of multiple neuroprotective pathways (website)
  • Role of autophagy in muscle diseases (website)
  • Role Of Chromatin Remodeling In Stem Cell Identity And Epigenetic Memory Switch Occurring In Tissue Regeneration (website)
  • Role of Diacylglycerol kinase alpha in SAP function: implications for T-cell mediated immune response in XLP (X-linked lymphoproliferative disease) patients and as possible pharmacological target for XLP treatment (website)
  • Role of GABAA-receptor mutations in idiopathic generalized epilepsy: a developmental study (website)
  • Role of mitochondrial dynamic and autophagy in the segregation of mutant mtDNA (website)
  • Set up of experimental models of alkaptonuria and preclinical testing of therapeutic agents for the treatment of ochronotic arthropathy (website)
  • Structure-function studies on 24-dehydrocholesterol reductase, the affected enzyme in desmosterolosis, a severe inherited disorder of sterol metabolism (website)
  • Studies of  familial hemiplegic migraine transgenic mouse models and patients to investigate the crosstalk between sensory neurons and neuroinflammatory cells in trigeminal ganglia in relation to migraine pain (website)
  • Therapeutic strategies to combat mitochondrial disorders (website)