Search results for "gene therapy."

showing 10 items of 51 documents

Anti-ageing gene therapy: Not so far away?

2019

Improving healthspan is the main objective of anti-ageing research. Currently, innovative gene therapy-based approaches seem to be among the most promising for preventing and treating chronic polygenic pathologies, including age-related ones. The gene-based therapy allows to modulate the genome architecture using both direct (e.g., by gene editing) and indirect (e.g., by viral or non-viral vectors) approaches. Nevertheless, considering the extraordinary complexity of processes involved in ageing and ageing-related diseases, the effectiveness of these therapeutic options is often unsatisfactory and limited by their side-effects. Thus, clinical implementation of such applications is certainly…

0301 basic medicineAgingviral vectorsComputer scienceProcess (engineering)Genetic enhancementBiochemistry03 medical and health sciences0302 clinical medicineGenome editingAnimalsHumansMolecular Biologyageing-related diseaseHealth spanGene Editingageing-related disease; anti-ageing medicine; gene editing; gene therapy; health span; viral vectorsGenetic TherapyAnti ageinghealth spangene therapyClinical Practice030104 developmental biologyNeurologyRisk analysis (engineering)anti-ageing medicine030217 neurology & neurosurgeryGenome architectureBiotechnologyAgeing research reviews
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Gene therapy for chondral and osteochondral regeneration: is the future now?

2017

Gene therapy might represent a promising strategy for chondral and osteochondral defects repair by balancing the management of temporary joint mechanical incompetence with altered metabolic and inflammatory homeostasis. This review analysed preclinical and clinical studies on gene therapy for the repair of articular cartilage defects performed over the last 10 years, focussing on expression vectors (non-viral and viral), type of genes delivered and gene therapy procedures (direct or indirect). Plasmids (non-viral expression vectors) and adenovirus (viral vectors) were the most employed vectors in preclinical studies. Genes delivered encoded mainly for growth factors, followed by transcripti…

0301 basic medicineCartilage ArticularExpression vectorPathologymedicine.medical_specialtyCell signalingCartilage repair; Expression vectors; Gene therapy procedures; Osteoarthritis; Regenerative medicine; Molecular Medicine; Molecular Biology; Pharmacology; Cellular and Molecular Neuroscience; Cell BiologyBone RegenerationInflammatory arthritisGenetic enhancementGene therapy procedureOsteoarthritisViral vector03 medical and health sciencesCellular and Molecular NeuroscienceCartilage repairChondrocytesInterferonSettore BIO/13 - Biologia ApplicataOsteoarthritismedicineAnimalsHumansRegenerationMolecular BiologyPharmacologyExpression vectorbusiness.industryRegeneration (biology)Cell BiologyGenetic Therapymedicine.disease030104 developmental biologyRegenerative medicineCancer researchMolecular MedicineOsteoarthritibusinessmedicine.drugCellular and molecular life sciences : CMLS
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Hydrodynamic IL10 Gene Transfer in Human Colon: Results from an "EX VIVO" Study with Potential Clinical Application in Crohn's Disease.

2017

Background: The aim of this work is to evaluate the efficacy of hydrodynamic venous IL10 gene delivery to "ex vivo" human colon segments and to determine its potential interest in Crohn's disease treatment. Methods: Twenty human colon segments were obtained from surgical resections. Hydrodynamic transfection through the main vein of the pedicle with 50 mL of hIL10 plasmid (20 mu g/mL) solution was performed on 13 of them. Tissue sections were cultured and DNA, RNA, and protein copies were determined after 1, 2, and 4 days. Data obtained were compared with 6 nontransfected specimens. Finally, 1 specimen was injected with gold nanoparticles, and their distribution was examined under electron …

0301 basic medicineColoninterleukin-10Metal NanoparticlesGene deliverylocoregionalTranslational Research Biomedical03 medical and health scienceschemistry.chemical_compound0302 clinical medicineCrohn Diseaseinflammatory bowel diseaseSubmucosamedicineImmunology and AllergyHumansGenehydrodynamicChemistryGastroenterologyGene Transfer TechniquesRNATransfectionGenetic Therapygene therapyMolecular biologyInterleukin-10Interleukin 10030104 developmental biologymedicine.anatomical_structureHydrodynamics030211 gastroenterology & hepatologyGoldDNAEx vivoInflammatory bowel diseases
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Myotonic dystrophy type 1 drug development: A pipeline toward the market

2021

Highlights • Myotonic dystrophy, a neuromuscular disease, affects at least around half a million people worldwide. • Close to two dozen preclinical and clinical drug development programs active. • Drugs encompass new chemical entities, repurposing, oligonucleotide, and gene therapy. • Tideglusib, mexiletine, and metformin are close to reaching marketing authorization.

0301 basic medicineDrugmedia_common.quotation_subjectMyotonic dystrophyDiseaseBioinformaticsMarketing authorizationMyotonic dystrophy03 medical and health sciences0302 clinical medicineGene therapyDrug DevelopmentDrug DiscoveryMedicineAnimalsHumansAntisense oligonucleotideRepurposingmedia_commonPharmacologybusiness.industryRepurposing drugmedicine.diseaseClinical trialClinical trialDrug repositioning030104 developmental biologyDrug development030220 oncology & carcinogenesisbusinessPost-Screen (Grey)Drug Discovery Today
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Non-primate lentiviral vectors and their applications in gene therapy for ocular disorders

2018

Lentiviruses have a number of molecular features in common, starting with the ability to integrate their genetic material into the genome of non-dividing infected cells. A peculiar property of non-primate lentiviruses consists in their incapability to infect and induce diseases in humans, thus providing the main rationale for deriving biologically safe lentiviral vectors for gene therapy applications. In this review, we first give an overview of non-primate lentiviruses, highlighting their common and distinctive molecular characteristics together with key concepts in the molecular biology of lentiviruses. We next examine the bioengineering strategies leading to the conversion of lentiviruse…

0301 basic medicineEye DiseasesGenetic enhancementGenetic Vectorslcsh:QR1-502Settore BIO/11 - Biologia MolecolareReviewComputational biologyGenomelcsh:MicrobiologyLentiviruViral vectorEIAV03 medical and health sciences0302 clinical medicineGene therapyVirologyJDVAnimalsHumansZebrafishDrug CarrierZebrafishDrug CarriersBIVbiologyAnimalLentivirusCAEVEye DiseaseGenetic Therapybiology.organism_classificationFIVOphthalmologyDisease Models Animal030104 developmental biologyInfectious DiseasesVMVLentiviral vector030217 neurology & neurosurgeryHuman
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Genetics and Gene Therapy of Anderson-Fabry Disease.

2018

Fabry's disease is a genetic disorder of X-linked inheritance caused by mutations in the alpha galactosidase A gene resulting in deficiency of this lysosomal enzyme. The progressive accumulation of glycosphingolipids, caused by the inadequate enzymatic activity, is responsible of organ dysfunction and thus of clinical manifestations. In the presence of a high clinical suspicion, a careful physical examination and specific laboratory tests are required, finally diagnosis of Fabry's disease is confirmed by the demonstration of absence or reduced alpha-galactosidase A enzyme activity in hemizygous men and gene typing in heterozygous females; in fact the performance of enzymatic activity assay …

0301 basic medicineGenetic enhancementChaperone therapyDisease030204 cardiovascular system & hematologyBioinformaticsMice0302 clinical medicineAlpha galactosidase ADrug DiscoveryGenetics (clinical)KidneybiologyTrihexosylceramidesGenetic disorderEnzyme replacement therapyDependovirusRecombinant ProteinsAlpha galactosidase A; Chaperone therapy; Enzyme replacement therapy; Fabry disease; Gene therapy; Viral vectors; Molecular Medicine; Molecular Biology; Genetics; Drug Discovery3003 Pharmaceutical Science; Genetics (clinical)Isoenzymesmedicine.anatomical_structureMolecular Medicinemedicine.symptomGenetic Vectors03 medical and health sciencesGene therapyViral vectorRare DiseasesGeneticGeneticsmedicineAnimalsHumansEnzyme Replacement TherapyMolecular BiologyAlpha-galactosidasebusiness.industryDrug Discovery3003 Pharmaceutical ScienceOrgan dysfunctionGenetic Therapymedicine.diseaseFabry diseaseDisease Models Animal030104 developmental biologyalpha-GalactosidaseMutationbiology.proteinFabry DiseasebusinessBiomarkersCurrent gene therapy
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The Sea Urchin sns5 Chromatin Insulator Shapes the Chromatin Architecture of a Lentivirus Vector Integrated in the Mammalian Genome.

2016

Lentivirus vectors are presently the favorite vehicles for therapeutic gene transfer in hematopoietic cells. Nonetheless, these vectors integrate randomly throughout the genome, exhibiting variegation of transgene expression due to the spreading of heterochromatin into the vector sequences. Moreover, the cis-regulatory elements harbored by the vector could disturb the proper transcription of resident genes neighboring the integration site. The incorporation of chromatin insulators in flanking position to the transferred unit can alleviate both the above-mentioned dangerous effects, due to the insulator-specific barrier and enhancer-blocking activities. In this study, we report the valuable …

0301 basic medicineHeterochromatinTransgeneGenetic VectorsGreen Fluorescent ProteinsPharmaceutical ScienceGene ExpressionSettore BIO/11 - Biologia MolecolareBiochemistryGenomelentiviru03 medical and health sciencesMiceGeneticTranscription (biology)Genes ReporterTransduction GeneticCell Line TumorDrug DiscoveryGeneticsLeukocytesAnimalsHumansGATA1 Transcription FactorTransgenesEnhancerMolecular BiologyGenechromatin structureGeneticsGenomechromatin insulatorbiologyLentivirusbiology.organism_classificationgene therapyChromatinChromatinCell biology030104 developmental biologyHEK293 CellsSea UrchinsLentivirusMolecular MedicineBiological AssayInsulator Elementstransgene expressionHeLa CellsNucleic acid therapeutics
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The role of registries in rare genetic lipid disorders: Review and introduction of the first global registry in lipoprotein lipase deficiency

2017

International audience; A good understanding of the natural history of rare genetic lipid disorders is a pre-requisite for successful patient management. Disease registries have been helpful in this regard. Lipoprotein Lipase Deficiency (LPLD) is a rare, autosomal-recessive lipid disorder characterized by severe hypertriglyceridemia and a very high risk for recurrent acute pancreatitis, however, only limited data are available on its natural course. Alipogene tiparvovec (Glybera (R)) is the first gene therapy to receive Marketing Authorization in the European Union; GENIALL (GENetherapy In the MAnagement of Lipoprotein Lipase Deficiency), a 15-year registry focusing on LPLD was launched in …

0301 basic medicinePediatricsPathologySettore MED/09 - Medicina Interna[SDV]Life Sciences [q-bio]Familial hypercholesterolemiaDisease030204 cardiovascular system & hematologyGeneTHERAPY0302 clinical medicineFamilialRisk FactorsHyperchylomicronemiaAlipogene tiparvovecRegistriesFAMILIAL HYPERCHOLESTEROLEMIAmedia_commonHypertriglyceridemiaPrognosis3. Good healthNatural historySystematic reviewPhenotypeDISEASESSAFETYHyperlipoproteinemia Type ICardiology and Cardiovascular Medicinemedicine.medical_specialtyAPHERESISRegistryFamilial chylomicronemia syndromeGENIALLLysosomal acid lipase deficiencyLipid Metabolism Inborn Errors03 medical and health sciencesLipoprotein lipase deficiencyRare DiseasesGene therapychylomicronemia syndromemedicinemedia_common.cataloged_instanceHumansGenetic Predisposition to DiseaseEuropean unionLipoprotein lipase deficiency (LPLD)business.industryALIPOGENE TIPARVOVEC AAV1-LPLS447Xmedicine.diseaseAlipogene tiparvovecLipoprotein Lipase030104 developmental biologyOrphan diseasebusiness
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VISMapper: ultra-fast exhaustive cartography of viral insertion sites for gene therapy

2017

The possibility of integrating viral vectors to become a persistent part of the host genome makes them a crucial element of clinical gene therapy. However, viral integration has associated risks, such as the unintentional activation of oncogenes that can result in cancer. Therefore, the analysis of integration sites of retroviral vectors is a crucial step in developing safer vectors for therapeutic use. Here we present VISMapper, a vector integration site analysis web server, to analyze next-generation sequencing data for retroviral vector integration sites. VISMapper can be found at: http://vismapper.babelomics.org . Because it uses novel mapping algorithms VISMapper is remarkably faster t…

0301 basic medicineWeb serverVirus IntegrationGenetic enhancementGenetic VectorsContext (language use)Computational biologyBiologyGenoma humàlcsh:Computer applications to medicine. Medical informaticscomputer.software_genreBiochemistryGenome viewerViral vectorViral integrationUser-Computer Interface03 medical and health sciencesGene therapyStructural BiologySAFERViral insertionSequence mappingHumansUltra fastGens Mapatgelcsh:QH301-705.5Molecular BiologyGeneticsInternetBase SequenceApplied MathematicsHigh-Throughput Nucleotide SequencingGenetic Therapy3. Good healthComputer Science Applications030104 developmental biologylcsh:Biology (General)lcsh:R858-859.7Viral integrationDNA microarraycomputerSoftware
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CNS-Targeting Therapies for Lysosomal Storage Diseases: Current Advances and Challenges.

2020

During the past decades, several therapeutic approaches have been developed and made rapidly available for many patients afflicted with lysosomal storage disorders (LSDs), inborn organelle disorders with broad clinical manifestations secondary to the progressive accumulation of undegraded macromolecules within lysosomes. These conditions are individually rare, but, collectively, their incidence ranges from 1 in 2,315 to 7,700 live-births. Most LSDs are manifested by neurological symptoms or signs, including developmental delay, seizures, acroparesthesia, motor weakness, and extrapyramidal signs. The chronic and later-onset clinical forms are at one end of the continuum spectrum and are char…

0301 basic medicineliposomesWeaknessLysosomal storage disordersReviewexosomesBioinformaticsBiochemistry Genetics and Molecular Biology (miscellaneous)BiochemistryExtracellular vesiclesUnmet needs03 medical and health sciences0302 clinical medicinelysosomesSlow progressionmedicineMolecular Bioscienceslcsh:QH301-705.5Molecular BiologytherapyExtrapyramidal signsbusiness.industryEnzyme replacement therapygene therapysmall molecules030104 developmental biologylcsh:Biology (General)030220 oncology & carcinogenesismedicine.symptombusinessextracellular vesiclesNeurological problemsenzyme replacement therapyFrontiers in molecular biosciences
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