AnatomyOrganismsDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPsychiatry and PsychologyPhenomena and ProcessesDisciplines and OccupationsAnthropology, Education, Sociology and Social PhenomenaInformation ScienceNamed GroupsHealth Care
Retinal DystrophiesMuscular DystrophiesRetinal DegenerationMyotonic DystrophyMutationMutation, MissensePedigreeLeber Congenital AmaurosisPoint MutationMuscular Dystrophy, DuchenneRetinitis PigmentosaCorneal Dystrophies, HereditaryElectroretinographyDNA Mutational Analysiscis-trans-IsomerasesEye ProteinsGenes, RecessiveFundus OculiMuscular Dystrophy, AnimalFrameshift MutationConsanguinityPhenotypeExonsChromosome MappingGenotypeMolecular Sequence DataPolymorphism, Single-Stranded ConformationalHeterozygoteGenetic LinkageBase SequenceRetinal DiseasesFuchs' Endothelial DystrophyEye Diseases, HereditaryPolymerase Chain ReactionGenes, DominantLaurence-Moon SyndromePolymorphism, Single NucleotideCodon, NonsensePhotoreceptor Cells, VertebrateRetinaPeripherinsHomozygoteSyndromeGerm-Line MutationGenetic TestingMuscular Dystrophy, FacioscapulohumeralGenetic Predisposition to DiseaseDystrophinBlindnessSequence Analysis, DNAAllelesAmino Acid SequenceMicrophthalmosNight BlindnessHaplotypesBardet-Biedl SyndromePigment Epithelium of EyeGenetic Association StudiesAmino Acid SubstitutionPhotoreceptor CellsLod ScoreExomeAge of OnsetDark AdaptationVisual AcuityGenetic MarkersMembrane ProteinsAlstrom SyndromeUsher SyndromesQuantitative Trait LociRetinal Pigment EpitheliumCarrier ProteinsMuscular Dystrophy, Emery-DreifussPolymorphism, GeneticOptic Atrophy, Hereditary, LeberOptic Atrophies, HereditaryFluorescein AngiographyRetinal Rod Photoreceptor CellsMacular DegenerationMice, Inbred mdxAbnormalities, MultipleNerve Tissue ProteinsGene FrequencyProteinsGene Expression ProfilingRetinal Cone Photoreceptor CellsMicrosatellite RepeatsSarcoglycansHeteroduplex AnalysisGenes, p53DNA PrimersNeuroaxonal DystrophiesGenetic VariationChoroid DiseasesMutation RateDisease Models, AnimalKidney Diseases, CysticRats, Mutant StrainsOptic Disk DrusenIntellectual Disability
Cone-rod dystrIRDsPigment epitheliumRetinitis pigmentosaRPE65DegenerationInherited retinal diseaseDiseasesSensorineural hearMuscular dystrophyGroup of retinalGeneticVariantsChromosomeRetina2019DisordersPhenotypeExomeGenomeRecessiveGeneticsDegenerationsCongenitalFundus1991Atrophy2017OcularInheritanceTherapiesBEST1ABCA4Clinical trialsMacularNonsyndromicProteinsExonDominantGeneticallyOrganoidsFSHDHypomorphicProteinPatient'sMissenseDiseaseAdeno-AssocSporadicPatientsSubretinalVMD2NovoGenomicOptic
Cone-rod dystr2
  • In this review article, the scientists highlight their work on one of the genes found to cause autosomal recessive cone-rod dystrophy (CORD), the RAB28 gene . (fightingblindness.ie)
  • The ATP-binding cassette transporter type A4 (ABCA4) gene is one of these genes and has been linked to Stargardt disease type 1 (STGD1), fundus flavimaculatus, cone-rod dystrophy (CRD), and pan-retinal CRD. (bvsalud.org)
IRDs13
Pigment epithelium2
Retinitis pigmentosa5
  • This study was undertaken to identify causal mutations responsible for autosomal recessive retinitis pigmentosa (arRP) in consanguineous families. (molvis.org)
  • To describe the clinical phenotype and genetic basis of non-syndromic retinitis pigmentosa (RP) in one family and two sporadic cases with biallelic mutations in the transcription factor neural retina leucine zipper ( NRL) . (molvis.org)
  • In 2017, after a series of clinical trials, the Food and Drug Administration approved voretigene neparvovecrzyl (marketed as Luxturna) for the treatment of any heritable retinal dystrophy caused by the mutated RPE65 gene, including LCA type 2 and retinitis pigmentosa, another congenital eye disease that affects photoreceptors in the retina. (regenhealthsolutions.info)
  • In a collaborative research effort between the Research Foundation at the Royal Victoria Eye and Ear Hospital and the Ocular Genetics Unit at Trinity College Dublin investigators identified a new gene responsible for a form of autosomal dominant Retinitis Pigmentosa. (acuityfoundationireland.ie)
  • This important paper (A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement. (acuityfoundationireland.ie)
RPE656
  • Recently, voretigene neparvovec (Luxturna®) has been approved by the US Food and Drug Administration for the treatment of biallelic mutations in the RPE65 gene. (bvsalud.org)
  • In 1993 researchers identified one potential target gene, RPE65 . (regenhealthsolutions.info)
  • Mutations in RPE65 are just one cause of inherited retinal dystrophy, but it was a cause that Bennett and Maguire could act on. (regenhealthsolutions.info)
  • Candidate gene and exome sequencing resulted in the identification of an Asp477Gly mutation in exon 13 of the RPE65 gene tracking with the disease in TCD-G. The Asp477Gly mutation was not present in Irish controls, but was found in a second Irish family identified at the Foundation, provisionally diagnosed with Choroideraemia, but in whom no Choroideraemia gene mutation had been found. (acuityfoundationireland.ie)
  • Mutations in RPE65 are a known cause of recessive Leber congenital amaurosis (LCA) and recessive RP, but no dominant mutations have been reported. (acuityfoundationireland.ie)
  • It is likely that mutations in RPE65 may be responsible for the disease in these patients. (acuityfoundationireland.ie)
Degeneration3
  • Biallelic variants in the cilia gene DYNC2H1 have been associated with two severe ciliopathies: Jeune asphyxiating thoracic dystrophy (JATD, MIM 613091) and short-rib polydactyly (SRP, MIM 613091) with only four documented cases of associated complex early retinal degeneration at ages 2 months, and 2, 5, and 11 years old. (nature.com)
  • As orthologous genes are commonly mutated in canine models of human blinding disorders, canine ABCA4 appears to be an ideal candidate gene to identify and study sequence changes in dogs affected by various forms of inherited retinal degeneration. (upenn.edu)
  • ADNIV patients develop ocular inflammation, retinal degeneration and neovascularization, and intraocular fibrosis starting in the second decade of life, culminating in blindness in their fifties. (stanford.edu)
Inherited retinal disease1
  • Determining the role of DYNC2H1 variants in nonsyndromic inherited retinal disease (IRD). (nature.com)
Diseases8
  • DelveInsight estimates that the Adeno-Associated Virus Vector-Based Gene Therapy Market, is anticipated to pick up momentum as companies across the globe are thoroughly working toward the development of new AAV-gene therapies to treat a spectrum of diseases. (technewspoint.com)
  • New York, USA) DelveInsight's Adeno-Associated Virus (AAV) Vector-Based Gene Therapy Market report offers a clear picture of the market position of the AAV vectors in the Gene therapy, emerging pipeline therapies, AAV vector-based Gene Therapy market share occupied by individual diseases, current and forecasted market share in the 7MM (the US, EU5 (the UK, Germany, France, Italy and Spain) and Japan) for the study period 2019-32. (technewspoint.com)
  • Over 200 mutations in the retina specific member of the ATP-binding cassette transporter superfamily (ABCA4) have been associated with a diverse group of human retinal diseases. (upenn.edu)
  • The phenotypes observed are consistent with those in the previous reports, and the observed mutation types and distribution further confirm distinct patterns for variants in NRL causing recessive and dominant diseases. (molvis.org)
  • He is the director of the Foundation Fighting Blindness USA Program Project Award entitled 'Splice Modulation to Treat Inherited Retinal Diseases' and is a member of ERN-EYE. (stargardtsconnected.org.uk)
  • These typically aim to restore function of a single missing or mutated gene in diseases such as cystic fibrosis and hemophilia, as well as some neurodegenerative, metabolic, and retinal disorders. (acs.org)
  • After numerous setbacks at the turn of the century, gene therapy is treating diseases ranging from neuromuscular disorders to cancer to blindness. (regenhealthsolutions.info)
  • Some babies are born with severe vision loss caused by retinal diseases that once led inevitably to total blindness. (regenhealthsolutions.info)
Sensorineural hear3
  • Alström syndrome (AS) is characterised by metabolic deficits, retinal dystrophy, sensorineural hearing loss, dilated cardiomyopathy and multi-organ fibrosis. (springer.com)
  • Cardinal features include childhood obesity, insulin resistance, cone-rod retinal dystrophy and sensorineural hearing loss (SNHL). (springer.com)
  • Duane Retraction Syndrome (DURS3) ( 617041 ) patients with mutations in MAFB may have sensorineural hearing loss. (arizona.edu)
Muscular dystrophy9
  • Facioscapulohumeral dystrophy (FSHD) is one of the most common types of muscular dystrophy.3133 It has distinct regional involvement and progression. (medscape.com)
  • Walton and Nattrass established FSHD as a distinct muscular dystrophy with specific diagnostic criteria. (medscape.com)
  • Duchenne muscular dystrophy (DMD) is a rare neuromuscular disease that affects 1 in every 3,500 to 5,000 male neonates worldwide. (delveinsight.com)
  • Furthermore, it is estimated that 250K people in the United States suffer from muscular dystrophy. (delveinsight.com)
  • Although there is no cure for any form of muscular dystrophy, treatment for some forms of the condition, including DMD, can assist extend a person's mobility and improve heart and lung muscle strength. (delveinsight.com)
  • On June 22, the FDA approved Sarepta's ELEVIDYS , the first gene therapy for Duchenne muscular dystrophy treatment . (delveinsight.com)
  • Still, even limited advances pave the way for ongoing progress, she adds, pointing to research in her patients who have Duchenne muscular dystrophy: "In most of these clinical trials, we learn important things. (regenhealthsolutions.info)
  • Muscular Dystrophy Association (MDA) - MDA is a non-profit organization dedicated to raising funds to support research efforts towards drug development and clinical trials for muscular dystrophy, amyotrophic lateral sclerosis or ALS, and related disorders. (curefa.org)
  • Image courtesy of Steven Moore, Wellstone Muscular Dystrophy Cooperative Research Center, University of Iowa. (comprehensivephysiology.com)
Group of retinal2
  • Purpose: Mutations in bestrophin 1 (BEST1) are associated with a group of retinal disorders known as bestrophinopathies in man and canine multifocal retinopathies (cmr) in the dog. (upenn.edu)
  • Despite recent advancements in gene therapy, there is still a lack of an effective treatment for this group of retinal conditions. (bvsalud.org)
Genetic18
  • Not all medical procedures that introduce alterations to a patient's genetic makeup can be considered gene therapy. (wikipedia.org)
  • Gene therapy was first conceptualized in the 1960s, when the feasibility of adding new genetic functions to mammalian cells began to be researched. (wikipedia.org)
  • The polymers are either translated into proteins, interfere with target gene expression, or possibly correct genetic mutations. (wikipedia.org)
  • Although the genetic lesion is well described in FSHD, the causal gene and the protein products are not known. (medscape.com)
  • Auditory phoneme discrimination, articulation, and language disorders in patients with genetic epilepsy with febrile seizures plus: A case-control study. (cdc.gov)
  • Indeed, they managed to induce the production of the RAB28 protein in the cone cells, and restored the OSP defect in zebrafish models with the genetic RAB28 mutation. (fightingblindness.ie)
  • A viral vector carrying genetic material is transported into a cell and then to the nucleus, where it releases cargo to replace a missing or malfunctioning gene. (acs.org)
  • Gene replacement or other genetic therapies linked to specific mutations to restore dystrophin production, membrane stabilization and/or upregulation of compensatory proteins, and reduction of the inflammatory cascade and/or enhancement of muscle regeneration are the main therapeutic strategies for DMD treatment . (delveinsight.com)
  • The path to gene therapy for genetic disorders has been long and costly, but the DMD treatment space received some good news. (delveinsight.com)
  • It is FDA's 13th gene therapy approval since 2017, and the first to address a prevalent genetic disease in ambulatory pediatric patients aged 4 through 5 years. (delveinsight.com)
  • ELEVIDYS addresses the core genetic cause of Duchenne, mutations in the dystrophin gene that result in a lack of dystrophin protein, by delivering to muscle cells an ELEVIDYS micro-dystrophin gene that codes for a shorter form of dystrophin. (delveinsight.com)
  • Most cases of Usher syndrome are autosomal recessive, and mutations have been found in more than 12 genetic loci and 8 identified genes. (medscape.com)
  • Luxturna was the first FDA-approved in vivo gene therapy, which is delivered to target cells inside the body (previously approved ex vivo therapies deliver the genetic material to target cells in samples collected from the body, which are then reinjected). (regenhealthsolutions.info)
  • Lecture: Stem Cell & Gene Therapy for Ocular Genetic Disease: What Technologies are Already Transforming the Ophthalmic World? (cybersight.org.cn)
  • I've been asked to talk about stem cell and gene therapy for ocular and genetic disease. (cybersight.org.cn)
  • Moreover, PanDrugs2 now considers cancer genetic dependencies to extend tumor vulnerabilities providing therapeutic options for untargetable genes. (bsc.es)
  • Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships. (lookformedical.com)
  • Linkage and genetic association studies can be immediately followed by investigation of candidate regions. (biomedcentral.com)
Variants8
  • In vitro assays were developed to validate the variants identified (fibroblast assay, induced pluripotent stem cell [iPSC] derived retinal organoids, and a dynein motility assay). (nature.com)
  • Using exome sequencing and genome sequencing, we document four novel DYNC2H1 pathogenic variants, and one variant previously reported in five unrelated cases of nonsyndromic progressive IRD. (nature.com)
  • All identified variants affect either a retina-predominant transcript or are hypomorphic, suggesting a basis for a nonsyndromic retinal phenotype. (nature.com)
  • Toward a better understanding of the experience of patients with moderate penetrance breast cancer gene pathogenic/likely pathogenic variants: A focus on ATM and CHEK2. (cdc.gov)
  • In most cases, it is necessary to perform a functional assay to determine the effect of these variants. (bvsalud.org)
  • Results: Through the analysis of WGS data, we identified two candidate variants in ABCA4 in one proband: a previously described deletion, c.699_768+342del (p. (bvsalud.org)
  • Here, we introduce PanDrugs2, a major upgrade of PanDrugs that, in addition to somatic variant analysis, supports a new integrated multi-omics analysis which simultaneously combines somatic and germline variants, copy number variation and gene expression data. (bsc.es)
  • The variability of SMARCA4 ‐related Coffin-Siris syndrome: Do nonsense candidate variants add to milder phenotypes? (coffinsiris.org)
Chromosome7
  • Genome-wide scans localized the disease phenotype to chromosome 8q, a region harboring RP1, a gene previously implicated in the pathogenesis of RP. (molvis.org)
  • One of the FSHD genes has been localized to chromosome band 4q35, but the gene or genes that are affected in FSHD are still unknown. (medscape.com)
  • FSHD is caused by a contraction mutation of D4Z4 macrosatellite repeats in the subtelomeric region of the 4qA161 haplotype of chromosome 4 in 95% of patients. (medscape.com)
  • Incontinentia pigmenti is caused by mutations in the NEMO/IKK -gamma gene, which is located on chromosome Xq28. (medscape.com)
  • FSHD candidate genes on chromosome 4q35. (comprehensivephysiology.com)
  • The Best1 encoding gene VMD2 is located in a pericentric region on human chromosome 11q13. (en-journal.org)
  • X-linked dominant - Disorders caused by mutations in genes located on the X chromosome. (assistedfertility.com)
Retina3
  • This requires parallel studies on genes that are important for the function of the retina, the optic nerve and aqueous humor outflow system in the normal eye. (nih.gov)
  • The researchers used a harmless adeno-associated virus (AAV), which they programmed to find retinal cells and insert a healthy version of the gene, and injected it into a patient's eye directly underneath the retina. (regenhealthsolutions.info)
  • That infects the retina and delivers the cargo of that virus into the retinal cells, in effect gene therapy. (cybersight.org.cn)
20191
  • The present AAV-based Gene therapy market owns two FDA-approved AAV-based gene therapies namely, Luxturna, approved in 2017 for a rare inherited retinal dystrophy, and Zolgensma, approved in 2019 for spinal muscular atrophy. (technewspoint.com)
Disorders4
  • Elucidating the function of the mutated gene, ALMS1 , is critical for the development of specific treatments and may uncover pathways relevant to a range of other disorders including common forms of obesity and type 2 diabetes. (springer.com)
  • Autosomal Dominant - Disorders caused by one mutated copy of a gene. (assistedfertility.com)
  • Autosomal Recessive - Disorders caused by two mutated copies of a gene. (assistedfertility.com)
  • X-linked recessive - Disorders caused by mutations on genes on the X chromosomes. (assistedfertility.com)
Phenotype1
  • These results strongly suggest that these mutations in RP1 are responsible for the retinal phenotype in affected individuals of all four consanguineous families. (molvis.org)
Exome1
  • Genome and exome sequencing were performed for five unrelated cases of IRD with no identified variant. (nature.com)
Genome7
  • The first therapeutic use of gene transfer as well as the first direct insertion of human DNA into the nuclear genome was performed by French Anderson in a trial starting in September 1990. (wikipedia.org)
  • Genome sequencing has been available to patients making it possible to identify which genes cause certain conditions. (fightingblindness.ie)
  • In participating UK research institutions, investigators can publish open access in Genome Research, Genes & Development, RNA, and Learning & Memory without article publication charges and all staff can read the entire renowned Cold Spring Harbor journal collection. (cshlpress.com)
  • Thousands of long non-coding RNA (lncRNA) genes are annotated in the human genome. (biomedcentral.com)
  • We report here a functionally annotated human gene index placed directly on the genome. (biomedcentral.com)
  • The current coverage is, however, sufficient for the Human Genome Project to enter a new phase, in which the entire sequence can be analyzed to identify genes, regulatory regions and other genomic elements and structures. (biomedcentral.com)
  • However, the challenges in genome annotation remain daunting [ 10 ], and the research community can anticipate years of additional work and manual curation to produce a true gene map of high quality. (biomedcentral.com)
Recessive5
  • When a condition is inherited in an autosomal recessive manner, it means that both copies of the RAB28 gene don't work properly, giving rise to the condition. (fightingblindness.ie)
  • NRL mutations predominantly cause dominant retinal disease, but there have been five published reports of mutations causing recessive disease. (molvis.org)
  • Here, we present three further examples of recessive RP due to NRL mutations. (molvis.org)
  • Pedigrees consistent with autosomal recessive inheritance have also been reported but the responsible genes are unknown. (arizona.edu)
  • Females who carry an X-linked recessive gene mutation have a 50% chance to pass it on to each of her children. (assistedfertility.com)
Genetics2
  • Candidate pathways can be investigated using genetics and immune screening, and successful identification of the underlying causes allows a treatment program to be tailored to the patient . (databasefootball.com)
  • Genetics is the study of genes and heredity. (acuityfoundationireland.ie)
Degenerations3
  • Cone-rod retinal degenerations present with central macular pigmentary changes (bull's eye maculopathy). (medscape.com)
  • The Research Foundation has a long standing interest in inherited retinal degenerations since its inception. (acuityfoundationireland.ie)
  • At present, patients with inherited retinal degenerations face inexorable loss of vision, in many cases resulting in total blindness. (acuityfoundationireland.ie)
Congenital1
  • Most cases occur sporadically but others are familial and about 30% of affected individuals have other congenital anomalies. (arizona.edu)
Fundus1
19912
  • Professor Cremers obtained his doctorate in Nijmegen in 1991, entitled 'Positional cloning of a candidate gene for choroideremia gene', under the supervision of Prof. B. Wieringa and Prof. H-H. Ropers. (stargardtsconnected.org.uk)
  • When the pair first began researching retinal disease in 1991, none of the genes now known to cause vision loss and blindness had been identified. (regenhealthsolutions.info)
Atrophy1
  • [ 5 ] Choroideremia and gyrate atrophy typically present with large scalloped areas of peripheral retinal atrophy. (medscape.com)
20171
  • The first AAV-based gene therapy drug, Glybera, was approved by the European Medicines Agency (EMA) in 2012 but later in 2017, it was withdrawn from the market mainly due to commercial failure. (technewspoint.com)
Ocular1
  • Despite extensive studies by many laboratories for over 15 years since the discovery of a connection between mutations in MYOC and glaucoma, the physiological functions of myocilin in ocular and non-ocular tissues are poorly understood. (nih.gov)
Inheritance1
  • His team also identified a sex imbalance for a subgroup of STGD1 probands in which more females than males are affected, suggesting that one quarter of STGD1 cases are subject to polygenic or multifactorial inheritance. (stargardtsconnected.org.uk)
Therapies6
  • Among all the indication, Hemophilia A is expected to contribute maximally to the growth of the market size in terms of revenue by 2032 owing to a maximum number of gene therapies with mostly in late phase of development, which are expected to enter into the market, the precedence of existing high treatment cost and also expected high cost for these upcoming gene therapies and also significant residual unmet need. (technewspoint.com)
  • Whereas among the emerging AAV gene therapies, Valoctocogene Roxaparvovec (BMN 270) expected to generate the maximum revenue by 2032 in the 7MM from the haemophilia A owing to visibility around the clinical profile and also early mover advantage. (technewspoint.com)
  • Using tropical fish to develop Gene therapies: what can we learn? (fightingblindness.ie)
  • Given that there are no clinical trials for the RAB28- related CORD cases, Prof. Kennedy and his team, stress the importance of using zebrafish in order to progress human RAB28 gene therapies. (fightingblindness.ie)
  • Eventually, results began to emerge from tests of AAVs used for in vivo gene delivery, as well as retro- and lentiviral vectors for ex vivo therapies. (acs.org)
  • Thanks to that new knowledge and steadfast investigations, gene therapy researchers can now point to a growing list of successful gene therapies. (regenhealthsolutions.info)
BEST12
ABCA41
  • He discovered hidden intronic mutations in the ABCA4 gene by sequencing >3.000 STGD1 probands and studied their effect on the RNA using in vitro splice assays and stem cell technology. (stargardtsconnected.org.uk)
Clinical trials2
  • Between 1989 and December 2018, over 2,900 clinical trials were conducted, with more than half of them in phase I. In 2003, Gendicine became the first gene therapy to receive regulatory approval. (wikipedia.org)
  • By the late 2000s, gene therapy clinical trials were well under way, approaching more than 100 per year. (acs.org)
Macular1
  • The disease shares a number of clinical and pathologic similarities with Best macular dystrophy (BMD), and cmr is proposed as a new large animal model for Best disease. (upenn.edu)
Nonsyndromic1
  • Mutations in the cysteine protease calpain-5 (CAPN5) cause autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV), a rare form of nonsyndromic uveitis. (stanford.edu)
Proteins4
  • We study genes, proteins and signaling pathways that might be essential for RGC and optic nerve development, function, survival, and regeneration. (nih.gov)
  • We are particularly interested in genes encoding olfactomedin domain-containing proteins. (nih.gov)
  • Several genes encoding olfactomedin domain-containing proteins are expressed in the eye. (nih.gov)
  • These genes encode proteins that are required for the development and maintenance of photoreceptor structure and its matrix membranes, visual transduction, ciliary trafficking and photoreceptor outer segment shedding. (molvis.org)
Exon1
  • Two-point logarithm of odds (LOD) scores were calculated, and all coding exons and exon-intron boundaries of RP1 were sequenced to identify the causal mutation. (molvis.org)
Dominant2
Genetically1
  • PIDs are genetically diverse, with mutations in many different genes capable of causing immunodeficiency . (databasefootball.com)
Organoids1
  • Analysis of retinal organoids showed that this new transcript expression increased with organoid differentiation. (nature.com)
FSHD2
  • Misexpression of FRG1 (FSHD region gene 1) may lead to the development of FSHD. (medscape.com)
  • Of patients with FSHD, 50-75% exhibit retinal vasculopathy and increased expression of vascular or endothelial-related FRG1 transcripts in the muscle. (medscape.com)
Hypomorphic1
  • Females with hypomorphic mutations in NEMO/IKK -gamma may have few clinical manifestations of incontinentia pigmenti. (medscape.com)
Protein4
  • The Adeno-Associated Viral vector is the safest and effective vehicle that is able to maintain long-term gene and protein expression following a single injection of the vector. (technewspoint.com)
  • Expression of the canine gene transcripts and protein was analyzed by Northern and Western blotting and immunocytochemistry. (upenn.edu)
  • When the genes are mutated, the RAB28 protein cannot be produced leading to the disruption of an important cellular process, called outer segment phagocytosis (OSP) . (fightingblindness.ie)
  • It is caused by mutations in the gene encoding the protein dystrophin. (delveinsight.com)
Patient's3
  • In this case, the patient's mother and father have both passed on a mutation, or a DNA change, for the RAB28 gene. (fightingblindness.ie)
  • We find genes because if we know a patient's genotype, that leads us to appropriate diagnosis, which leads us, in turn, to appropriate counseling of a family, recurrence risk, and things like that. (cybersight.org.cn)
  • But knowing the patient's gene also helps us understand how the disease happens, how it works. (cybersight.org.cn)
Missense2
  • V4, a novel missense variant, was in trans with V5, previously associated with Jeune asphyxiating thoracic dystrophy (JATD). (nature.com)
  • Two disease-specific sequence alterations were identified in the canine VMD2 gene: a C73T stop mutation in cmr1 and a G482A missense mutation in cmr2. (upenn.edu)
Disease15
  • It was recently discovered, however, that the disease is not X-linked and is caused by mutations in the small nuclear RNA noncoding gene RNU4ATAC . (databasefootball.com)
  • To date, only ten cases from seven families have been reported with Roifman syndrome, although unreporting is expected, with most clinicians unaware of the disease. (databasefootball.com)
  • The RNU4ATAC gene that is mutated in Roifman patients is part of this minor splicing complex, with the symptoms of the disease being driven by errors introduced in the genes that need it. (databasefootball.com)
  • Mutations in MYOC are among the most common causes of inherited eye disease with a known molecular basis. (nih.gov)
  • T, p.Gln80*, as the most likely disease candidate. (molvis.org)
  • 26 genes have been identified currently that cause LCA/EOSRD and as a result, there is significant inter- and intrafamilial phenotypic variability in terms of signs and symptoms of visual dysfunction, disease progression and clinical findings. (gene.vision)
  • Some genes are associated with a severe but stable disease course such as GUCY2D or CEP290 while others gradually progress like those with AIPL1 mutations. (gene.vision)
  • He initiated and coordinated national (RD5000) and international (European Retinal Disease Consortium) collaborations in the IRD field. (stargardtsconnected.org.uk)
  • Attempts to treat disease by inserting DNA into patients' cells all but ended in 1999 after the death of an 18-year-old from a severe immune response to the virus used to deliver a corrective gene. (acs.org)
  • Researchers have linked the disease to mutations or deletions in any one of 27 genes associated with retinal development and function. (regenhealthsolutions.info)
  • Some of you may remember the case of Jesse Gelsinger, a patient at the University of Pennsylvania over a decade ago who got gene therapy for hepatic disease and subsequently died. (cybersight.org.cn)
  • We apply these systems to install putative protective mutations in vivo for Alzheimer's disease in astrocytes and for coronary artery disease in hepatocytes. (nature.com)
  • Here, we performed a meta-analysis of stroma-, and immune-related gene expression in the PDAC microenvironment to improve disease prognosis and therapeutic development. (bsc.es)
  • This collaboration has resulted in the identification of novel disease causing genes responsible for some of these inherited retinopathies. (acuityfoundationireland.ie)
  • Inherited - A disease or characteristic that is transmitted through genes from parents to offspring. (assistedfertility.com)
Adeno-Assoc1
  • It is becoming clear that vectors based upon adeno-associated virus (AAV) are the vectors of choice for certain gene therapy applications such as muscle delivery. (justia.com)
Sporadic1
  • Sporadic cases are mostly unilateral while familial ones are more likely to be bilateral. (arizona.edu)
Patients12
  • Cline claimed that one of the genes in his patients was active six months later, though he never published this data or had it verified. (wikipedia.org)
  • The patients bore mutations in the gene RNU4ATAC , which is an essential part of the RNA splicing complex. (databasefootball.com)
  • By purifying the transitional B cells that were defective in Roifman patients, the authors were able to use a next-generation sequence to find out which genes were incorrectly edited due to the mutation in the minor splicing complex. (databasefootball.com)
  • Complementing Tissue Testing With Plasma Mutation Profiling Improves Therapeutic Decision-Making for Patients With Lung Cancer. (cdc.gov)
  • Gene therapy has been proposed as a potential tool for improving visual function in these patients. (bvsalud.org)
  • Completely curing patients is obviously going to be a huge success, but it's not [yet] an achievable aim in a lot of situations," says Julie Crudele, a neurologist and gene therapy researcher at the University of Washington. (regenhealthsolutions.info)
  • These patients are typically born with a normal weight but 90% of cases rapidly gain weight in the first year of life. (inforang.com)
  • I know that many of you are, maybe, signed into this talk hoping that you can get gene therapy for your patients tomorrow. (cybersight.org.cn)
  • In female incontinentia pigmenti patients, lyonization results in functional mosaicism of X-linked genes, which is manifested by the blaschkoid distribution of cutaneous lesions. (medscape.com)
  • Patients with type 1 discussed here are more likely to have esotropia with a head turn to the involved side in unilateral cases whereas those with type 2 are considered more likely to have an exotropia with a head turn toward the uninvolved side. (arizona.edu)
  • Approximately 20% of patients with a diagnosis of Choroideraemia do not have mutations in the X-linked gene for Choroideraemia. (acuityfoundationireland.ie)
  • The Foundation has previously helped to defray the cost of this clinic for patients on a case by case basis. (coffinsiris.org)
Subretinal1
  • The growth and development of gene therapy give rise to the need for a standardized procedure for subretinal injection that ensures the efficacy and safety of this new approach to drug delivery. (bvsalud.org)
VMD21
  • The authors propose these two spontaneous mutations in the canine VMD2 gene, which cause cmr, as the first naturally occurring animal model of BMD. (upenn.edu)
Novo1
  • A local high frequency of microhomologies, macrohomologies, tandem repeats, and repeat/repetitive sequences contribute to a high rate of nonallelic homologous recombination involving NEMO , resulting in the development of de novo deletion mutations. (medscape.com)
Genomic1
  • Public attention surrounding completion of the draft human sequence has fostered the impression that we are entering a 'post-genomic' era, and that description of genes and their functions is straightforward. (biomedcentral.com)
Optic1
  • It is a group of optic neuropathies characterized by the death of retinal ganglion cells (RGCs), leading to a specific deformation of the optic nerve head. (nih.gov)