Ocular genes. Medical search. Frequent questions

CAMBRIDGE, Mass., May 18, 2021 - Vedere Bio II, Inc., a company developing next generation ocular gene therapies designed for vision restoration and preservation for patients with vision loss due to photoreceptor death, today announced the completion of its $77 million Series A financing. (retinaldegenerationfund.org)
Founded by the leadership and research team behind the former Vedere Bio, which was acquired by Novartis in September 2020, Vedere Bio II (Vedere) will leverage its new, proprietary, mutation agnostic optogenetics technology to improve upon current gene therapies by restoring functional vision to patients. (retinaldegenerationfund.org)
While most current gene therapies are targeted to specific gene mutations and only slow down vision loss, Vedere's technology is mutation agnostic and has the potential to rapidly add new function regardless of disease stage. (retinaldegenerationfund.org)
The company's unique approach and groundbreaking technology has the potential to address challenges with existing gene therapies that have been unable to be overcome in the past, with the ultimate goal of restoring vision for patients who have limited treatment options. (retinaldegenerationfund.org)
Adverum also presented new research pipeline data supporting the utility of its proprietary adeno-associated virus (AAV) vector platform in ocular gene therapy with presentations on optogenetics and on Chemistry, Manufacturing and Controls (CMC) strategies for AAV-mediated gene therapies in highly prevalent diseases. (adverum.com)
In a poster presentation examining CMC strategies for AAV gene therapies, Adverum presented data demonstrating that improved bacmid purity enables lower passage number and higher gene of interest stability, and that manufacturing process changes, such as adding Sf-RVN cells with optimal media (rather than Sf9 cells) or the use of low MOI for rAAV production, can consistently yield higher titer rAAV. (adverum.com)
Leveraging the capabilities of its proprietary intravitreal (IVT) platform, Adverum is developing durable, single-administration therapies, designed to be delivered in physicians' offices, to eliminate the need for frequent ocular injections to treat these diseases. (adverum.com)
The outer retina is therefore the primary target for ocular gene therapies. (berkeley.edu)
To date, most gene therapies have targeted monogenic recessive retinal diseases and employed viral vectors to transfer a 'normal ' copy of the mutated gene to the affected cell. (berkeley.edu)
These animal models are the subject of study to determine the pathophysiological mechanisms whereby these gene defects lead to photoreceptor degeneration and hopefully will lead to pilot studies of novel therapies for retinal degeneration. (berkeley.edu)
Existing therapies target only one of more than 250 genes associated with IRDs. (biospace.com)
The next frontier in ophthalmology involves finding ways to bring potentially transformative gene therapies to a broader patient population," said Jay Bradner, president of the Novartis Institutes for BioMedical Research. (biospace.com)
Our proprietary intravitreal capsids enable not only Vedere Bio's optogenetics products but also other ocular gene therapies. (biospace.com)
The partnership will focus on the development of new adeno-associated viruses (AAV) gene therapies to treat ocular diseases. (mmm-online.com)

The treatment of ocular diseases has benefited tremendously from the resurgence of gene therapy. (ondrugdelivery.com)
Two ocular characteristics make gene therapy advantageous and, in some cases, the only option for some genetic diseases, cancers and viral infections. (ondrugdelivery.com)
This data further supports our advancing these programs towards the clinic and our belief in the potential for gene editing medicines to transform the lives of those living with inherited retinal diseases. (editasmedicine.com)
Unicycive Therapeutics Inc. has announced key efficacy findings with UNI-494 in animal models of geographic atrophy (GA). UNI-494 is a mitochondrial potassium channel (mitoKATP) activator in development for treating diseases affected by mitochondrial dysfunction, such as kidney, liver and ocular diseases. (bioworld.com)
Based on technology from the laboratories of Drs. Ehud Isacoff and John G. Flannery of UC Berkeley, and technology directed at enhanced ocular gene therapy delivery arising jointly between UC Berkeley and the School of Veterinary Medicine at the University of Pennsylvania, Vedere Bio II has developed an optogenetics-based platform to develop treatments for inherited retinal diseases (IRDs) and geographic atrophy (GA), unbound by the specific underlying genetic cause. (retinaldegenerationfund.org)
Adverum Biotechnologies (NASDAQ: ADVM) is a clinical-stage company that aims to establish gene therapy as a new standard of care for highly prevalent ocular diseases with the aspiration of developing functional cures to restore vision and prevent blindness. (adverum.com)
Advances in gene Therapy for Diseases of the Eye. (umassmed.edu)
Now, a new gene therapy has made the first steps on the path to becoming the first-ever treatment for NAION, along with many other aging diseases of the eye. (fiercebiotech.com)
With thousands of clinical trials to date, gene therapy is a flourishing strategy with great promise for the treatment of diseases impacting the nervous system. (frontiersin.org)
Gene therapy has great potential for treating retinal diseases including glaucoma, age-related macular degeneration, and inherited photoreceptor diseases. (berkeley.edu)
Gene identifications in humans have allowed us to examine the biochemical pathways in these diseases. (berkeley.edu)
For recessive null diseases, gene replacement is an option. (berkeley.edu)
We find that gene therapy has vast potential for treating and potentially curing a number of inherited photoreceptor diseases. (berkeley.edu)

Researchers are uncertain how these giant melanosomes are related to vision loss and other eye abnormalities in people with ocular albinism. (medlineplus.gov)
From a systematic review of previously published cases to date, ocular abnormalities are present in more than half of patients with the syndrome. (hindawi.com)
This categorization of NAA10 -related syndrome also includes Lenz microphthalmia syndrome (MIM#309800), a disorder also caused by pathogenic variants in the NAA10 gene which is characterized by abnormalities of the skeletal and urinary systems, teeth, ears, digits, and several ocular defects that may include unilateral or bilateral microphthalmia/anophthalmia, cataracts, nystagmus, coloboma, and glaucoma [ 3 ]. (hindawi.com)
1 Treatment options are often chosen on the basis of these presumed ocular abnormalities despite the fact that previous literature indicates that objective ocular physical findings do not correlate well with DE symptoms. (bmj.com)

Regular eye exams can detect eye conditions often associated with ocular albinism, including nystagmus , strabismus (squint) and amblyopia (lazy eye) . (guidedogs.org.uk)

Some people with ocular albinism also have difficulty with depth perception, making driving difficult. (guidedogs.org.uk)

Genes (Basel), 2023 Mar 31. (nih.gov)
In a presentation on April 23 at the 2023 Association for Research and Vision Ophthalmology Annual Meeting, scientists at regenerative medicine biotech Life Biosciences and Harvard Medical School revealed data showing that the company's gene therapy platform could restore vision loss in primate models of NAION. (fiercebiotech.com)

Her lab is currently investigating cell signaling pathways involved in wound healing with attention to the regeneration of the ocular surface epithelial cells and corneal nerves. (upenn.edu)

In gene therapy, a viral vector acts as the envelope that carries an encoded genetic message, often based on an AAV (adeno-associated virus) vector. (aao.org)
In this review article, we outline key characteristics of major gene therapy viruses-adenovirus, adeno-associated virus (AAV), and lentivirus-and summarize the mechanisms regulating important steps in the virus journey from binding at peripheral nerve terminals to nuclear delivery. (frontiersin.org)

Rare cases of ocular albinism are not caused by mutations in the GPR143 gene. (medlineplus.gov)
Early studies proposed that most cases of ocular toxoplasmosis were secondary to congenital infection and that they tended to occur during the chronic phase of infection. (medscape.com)

Multiple ocular defects (MOD) in cattle is an autosomal recessive hereditary disorder characterized by dysplasia of the lens, retinal detachment, persistence of the hyaloid artery, and microphthalmia. (elsevierpure.com)
In autosomal dominant CL, phenotypic variability is common with some patients carrying genetic variants in the ELN or FBLN5 genes [4] . (rbht.nhs.uk)
Autosomal recessive CL is the most common form of inherited neonatal CL and may be attributed to mutations in EFEMP2 ( FBLN4 ), FBLN5 and ATP6V0A2 genes [4] . (rbht.nhs.uk)
As shown in Table 2, two major disorders exist in this category, ocular albinism 1 (OA 1) and autosomal recessive ocular albinism (AROA). (medscape.com)
Autosomal Dominant Genetic disorders determined by a single gene (Mendelian disorders) are easiest to analyze and the most well understood. (msdmanuals.com)
The genetic defect is autosomal recessive and is mapped to the HGO gene on arm 3q1, and 18 genetic missense mutations are known to cause homogentisic acid oxidase aberrations. (medscape.com)

Ocular albinism type 1 results from mutations in the GPR143 gene. (medlineplus.gov)
The vascular type results from mutations in the COL3A1 gene. (rbht.nhs.uk)
The basic molecular defect results from mutations in the gene encoding the glycoprotein fibrillin-1 ( FBN1 ), which is the main component of microfibrils and helps anchor cells to the extracellular matrix. (msdmanuals.com)

Traditionally, albinism has been classified according to clinical phenotype, and the 2 main categories are oculocutaneous albinism (OCA) and ocular albinism (OA). (medscape.com)

Unlike some other forms of albinism, ocular albinism does not significantly affect the color of the skin and hair. (medlineplus.gov)
The ophthalmologist plays an important role in detecting albinism because most forms of albinism present with ocular features as the primary morbidity. (medscape.com)

Ocular albinism is a genetic condition that primarily affects the eyes. (medlineplus.gov)
Ocular albinism is characterized by severely impaired sharpness of vision (visual acuity) and problems with combining vision from both eyes to perceive depth (stereoscopic vision). (medlineplus.gov)
The most common form of ocular albinism is known as the Nettleship-Falls type or type 1. (medlineplus.gov)
Other forms of ocular albinism are much rarer and may be associated with additional signs and symptoms, such as hearing loss. (medlineplus.gov)
The most common form of this disorder, ocular albinism type 1, affects at least 1 in 60,000 males. (medlineplus.gov)
Ocular albinism type 1 is inherited in an X-linked pattern. (medlineplus.gov)
In males (who have only one X chromosome), one altered copy of the GPR143 gene in each cell is sufficient to cause the characteristic features of ocular albinism. (medlineplus.gov)
Cortese K, Giordano F, Surace EM, Venturi C, Ballabio A, Tacchetti C, Marigo V. The ocular albinism type 1 (OA1) gene controls melanosome maturation and size. (medlineplus.gov)
Ocular albinism is a rare condition that causes eye problems due to a lack of pigment in the eye. (guidedogs.org.uk)
Ocular albinism is a genetic condition that can't be cured, but there are many ways people with the condition can make the most of their vision. (guidedogs.org.uk)
Children with ocular albinism will benefit from early support to make the most of their vision and manage symptoms such as nystagmus and strabismus. (guidedogs.org.uk)
Although ocular albinism can affect daily life, it won't stop your child from living an independent life and doing things they enjoy. (guidedogs.org.uk)
If your child has ocular albinism, they will have regular appointments with their ophthalmologist, a specialist eye doctor. (guidedogs.org.uk)
Although ocular albinism can't be cured, there are many ways to help your child manage their symptoms. (guidedogs.org.uk)
If there is a history of ocular albinism, you and your family members may be referred for genetic testing. (guidedogs.org.uk)
Can you drive with ocular albinism? (guidedogs.org.uk)
Ocular albinism is one of the eye conditions you must tell the DVLA you have since it causes poor visual acuity and vision problems, including nystagmus. (guidedogs.org.uk)
Can you work with ocular albinism? (guidedogs.org.uk)
The type of support you need will depend on how severe your visual impairment is due to ocular albinism. (guidedogs.org.uk)
If your child has ocular albinism, try speaking to their specialist for advice before they start thinking about career choices. (guidedogs.org.uk)
Children with ocular albinism are typically diagnosed at a young age. (guidedogs.org.uk)
The phenotypic heterogeneity of albinism is due to the different gene mutations affecting various points along the melanin pathway, resulting in varying degrees of decreased melanin production. (medscape.com)
These ocular changes are common to all types of albinism. (medscape.com)

This is the first study describing the production and distribution of ETS-1 and ETS-2 mRNAs and proteins using in situ hybridization and immunohistochemistry in murine ocular tissue sections of normal control eyes and tumoral eyes from mice of the same age. (molvis.org)
Continuous expression of CFI in ocular tissue holds the possibility to inhibit complement overactivation, thereby halting GA lesion growth and preserving vision for dry AMD patients. (adverum.com)
The ocular tissue where these tumors arise, the uvea, is a densely pigmented layer that lies for the most part between the sclera and the retina. (medscape.com)
Gene expression was analyzed by measuring beta-galactosidase activity in tissue homogenates or visualizing enzymatic activity or protein production at a cellular level by in situ histochemistry or immunocytochemistry. (nih.gov)
Ochronosis is the bluish black discoloration of certain tissues, such as the ear cartilage and the ocular tissue, seen with alkaptonuria , a metabolic disorder. (medscape.com)

Whether a condition calls for gene replacement, editing, suppression or growth, researchers must engineer vectors to deliver the suitable genetic material to the right place in the ocular microenvironment. (ondrugdelivery.com)
Cyagen Biomodels LLC has established a strategic collaboration with Neurophth Therapeutics Inc. to codevelop next-generation AAV gene therapy vectors for specific types of genetic ophthalmic disorders. (bioworld.com)
This gene therapy candidate uses AAV8 to deliver genetic code that expresses a protein similar to ranibizumab. (aao.org)
In that case, they were able to restore sight by altering epigenetic changes-modifications to the way genes are expressed that don't affect the genetic code-in retinal cells. (fiercebiotech.com)
Virus-mediated gene therapy has the potential to deliver exogenous genetic material into specific cell types to promote survival and counteract disease. (frontiersin.org)
2006) it would be good if that future epidemiological studies of relationships between lead exposures and cancer should include evaluation of genetic susceptibility factors, such as the ALAD gene. (who.int)
Antimicrobial resistance occurs through different mechanisms, which include spontaneous (natural) genetic mutations and horizontal transfer of resistant genes through deoxyribonucleic acid (DNA). (who.int)

ETS-1 and ETS-2 mRNA and protein levels were much higher in the ocular tissues of Tyrp-1-TAg mice than in control ocular tissues from wild-type mice. (molvis.org)
Significant expression of LacZ was not observed in other ocular or peripheral tissues. (nih.gov)

In addition, gene identification in patients permits us to identify naturally occurring animal models or create new transgenic or knockout animal models with retinal degeneration due to defects in the gene homologs. (berkeley.edu)
We speculate that the type and severity of ocular defects present in individuals with the NAA10 -related syndrome are dependent on the specific NAA10 pathogenic variant involved. (hindawi.com)

We have examined in silico the structure of rho (which is expressed uniquely in the retina) and the closely related extraretinal rod-like opsin (exo-rhodopsin) gene, errlo (which is expressed uniquely in the pineal), in the puffer-fish, Fugu rubripes (Takifugu rubripes). (ox.ac.uk)
We suggest that loss of expression of errlo in the retina could be related to the metabolic and physiological advantages, such as a reduction in splicing events during RNA processing, that may be conferred through possession of an additional, intronless rod opsin gene in the form of rho. (ox.ac.uk)
Within the retina, the reporter gene was specifically expressed in photoreceptors, consistent with the localization of endogenous beta-PDE. (nih.gov)
In this chapter, ocular lesions of fetal and child FCMD patients are presented, especially focusing on pathological findings of the retina, and functions of fukutin are discussed. (intechopen.com)
In particular, for retinal gene therapy it would be highly advantageous to transduce a single cell type that spans the entire retina after an intravitreal injection of a gene delivery vehicle for the subsequent secretion of a general neuroprotective factor throughout the retina. (berkeley.edu)
The findings demonstrated that all three major classes of GST isozymes were expressed in bovine eye , but the GST genes were differentially expressed in the lens, cornea, and retina. (cdc.gov)

Gene therapy is not a new treatment, having been used to alter abnormal or mutated genes and produce valuable proteins since the 1970s. (ondrugdelivery.com)
Experts do not fully understand the complexities of immunologic privilege but they do know that the ocular microenvironment regulates antigens within the eye via anti-inflammatory proteins and neuropeptides. (ondrugdelivery.com)
The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. (cancerindex.org)

This route is minimally invasive and therefore clinically relevant for gene therapy targeting to peripheral nerve soma. (frontiersin.org)

We have studied the transgenic mouse strain, Tyrp-1-TAg, to try to gain insight into possible molecular mechanisms common to pigmented ocular neoplasms occurring spontaneously in the eyes of these mice and human choroidal melanoma. (molvis.org)
The molecular sequence of this clone aligns with the gene accession number as a point of reference only. (origene.com)

In April 2018, Novartis bought Illinois-based AveXis for $8.7 billion, largely to acquire the company's gene therapy candidate, AVXS-101, for spinal muscular atrophy, but also for the company's gene therapy platform. (biospace.com)

Data shows that keratosis follicularis spinulosa decalvans could be caused by mutations in the SAT 1 gene. (wikipedia.org)
The dermatosparaxis type is caused by mutations in the ADAMTS2 gene. (rbht.nhs.uk)

Further investigation is needed to better define the Severe Ocular Cowpox in natural life cycle of this organism, especially the role of a Human, Finland tick species in its transmission. (cdc.gov)
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)
Severe foveal hypoplasia and macular degeneration in Stickler syndrome caused by missense mutation in COL2A1 gene. (nih.gov)
T. gondii type II strains, identified predominantly in the populations of some European countries and the United States, were reported to generate congenital toxoplasmosis, including lethal infection, severe neuro-ocular involvement, isolated chorioretinitis, and/or latent toxoplasmosis [ 7 ]. (springer.com)
Conclusions Consistent with a chronic overlapping pain condition, patients with DE disease with more severe NOP symptoms report more frequent and severe non-ocular functional comorbid pain disorders. (bmj.com)

Gene Therapy Approaches for the Treatment of Retinal Disorders. (umassmed.edu)
The takeout broadens Novartis' footprint in gene and cell therapy, with Vedere Bio's gene therapy platforms for ophthalmic disorders. (biospace.com)
Dry eye disease (DED) represents a heterogeneous and multifactorial group of disorders that affects the tears and ocular surface and results in discomfort and unpleasant visual phenomena, and in some cases, damage to the ocular surface. (bmj.com)

[ 3 ] Ocular toxoplasmosis is a leading cause of posterior uveitis. (medscape.com)
Complement factor H and interleukin gene polymorphisms in patients with non-infectious intermediate and posterior uveitis. (cdc.gov)

The principal structural defect involves the cardiovascular, musculoskeletal, and ocular systems. (msdmanuals.com)

Opus Genetics Inc. has received FDA clearance for its IND application for a first-in-human phase I/II trial of OPGX-001 in patients with Leber congenital amaurosis (LCA) resulting from biallelic mutations in the LCA5 gene (LCA5). (bioworld.com)
Several articles in this month's issue focus on the core mission of Clinical Genetics: finding disease causing genes to help patients. (nature.com)
For years, Channel 9 has followed the alarming number of ocular melanoma cases and the unsuccessful efforts to find a cause -- whether from the environment or due to genetics. (wsoctv.com)

Ocular disease patients can receive vectors through topical eye drops, oral medication or injections. (ondrugdelivery.com)

The role of two members of the ETS (E26 avian leukemia oncogene) family of transcription factors, ETS-1 and ETS-2, has been investigated in many cancers but has not yet been studied in ocular tumors. (molvis.org)

In contrast, ocular lesions in patients who acquired toxoplasmosis after birth were not found to be common. (medscape.com)
Brazilian studies showed that only 1% of young children with toxoplasmosis had ocular lesions, whereas 21% of persons older than 13 years had ocular lesions. (medscape.com)
[ 10 ] Moreover, in a Canadian epidemic of toxoplasmosis, up to 21% of persons who were affected developed ocular lesions. (medscape.com)
Fukuyama congenital muscular dystrophy (FCMD) is one of the congenital muscular dystrophies, showing central nervous system (CNS) and ocular lesions, in addition to muscular dystrophy. (intechopen.com)
Studies of ocular lesions are not so many, compared with those of the muscle and CNS. (intechopen.com)

Choroidal melanoma is the most common primary malignant ocular tumor in human adults. (molvis.org)
If ocular melanoma spreads to a patient's liver, the outlook is grim because this cancer doesn't respond well to chemotherapy or radiation. (wsoctv.com)
Because ocular melanoma doesn't respond to chemotherapy or radiation, Dr. Bower says they're working to create a targeted gene therapy. (wsoctv.com)

Administration of gene therapy viruses into skeletal muscle, where distal terminals of motor and sensory neurons reside, has been shown to result in extensive transduction of cells within the spinal cord, brainstem, and sensory ganglia. (frontiersin.org)

Loci for isolated thoracic aortic aneurysm have been identified on chromosomes 11q (AAT1) and 5q (AAT2) and pathogenic variants in the MYH11, ACTA2, MYLK and PRKG1 genes are known causes [13] . (rbht.nhs.uk)
The disorder is caused by pathogenic variants in the NAA10 gene located on chromosome X at position Xq28. (hindawi.com)
Ogden syndrome (MIM #300855) is a rare X-linked neurodevelopmental disorder caused by pathogenic variants of the NAA10 gene located at Xq28 [ 1 ]. (hindawi.com)
A field synopsis on low-penetrance variants in DNA repair genes and cancer susceptibility. (who.int)

Using semi-quantitative reverse-transcription polymerase chain reaction (RT-PCR) and western blots experiments, we compared changes in ETS-1 and ETS-2 expression, their protein levels, and the regulation of some of their target gene expressions at different stages of the ocular tumoral progression in the transgenic mouse model, Tyrp-1-TAg, with those in normal eyes from control mice of the same age. (molvis.org)
Life Biosciences' gene therapy platform works by inducing expression of the transcription factors Oct3/4, Sox2 and Klfr4, or OSK-three of the four Yamanaka factors. (fiercebiotech.com)
We previously demonstrated that 350 bp of the human rod cGMP phosphodiesterase beta-subunit (beta-PDE) gene promoter are sufficient to direct high levels of gene expression in human Y-79 retinoblastoma cells in vitro. (nih.gov)
Photoreceptor-specific reporter gene expression is driven in vivo by a 350-bp segment of the beta-PDE 5' flanking sequence. (nih.gov)
This study demonstrates the utility of the human beta-PDE promoter for directing the expression of foreign genes to photoreceptors and suggests that the -297 to +53 beta-PDE 5' flanking region fragment may have important implications for therapeutic gene delivery to the visual cells. (nih.gov)
Search the gene expression profiles from curated DataSets in the Gene Expression Omnibus (GEO) repository. (cancerindex.org)
Expression varies depending on the nature of the gene. (origene.com)
To assess requirements for MHCI in the CNS, mice lacking expression of specific MHCI genes were examined. (visionsciences.org)
If expression of a trait requires only one copy of a gene (one allele). (msdmanuals.com)
How Reliable Are Gene Expression-Based and Immunohistochemical Biomarkers Assessed on a Core-Needle Biopsy? (lu.se)

Alport syndrome is an inherited disorder of the basement membrane, resulting in progressive renal failure due to glomerulonephropathy, variable sensorineural hearing loss, and variable ocular anomalies [1] . (rbht.nhs.uk)

Retinal Gene Delivery by rAAV and DNA Electroporation. (umassmed.edu)

She is also specialized in ocular pathology. (upenn.edu)

Ocular manifestations identified in this child include downslanting palpebral fissures, myopic astigmatism, nystagmus, and exotropia. (hindawi.com)

Results Despite similar ocular surface findings, patients in the high NOP group had very different systemic (non-ocular) profiles with higher overall pain intensity ratings, higher frequency of comorbid chronic centralised pain conditions, lower quality-of-life indices and more abnormal mental health scores than those in the low NOP group. (bmj.com)

In Teleost fish examined to date the ocular rod opsin gene, rho, is intronless, unlike the rod opsin genes of other vertebrate classes which possess a five exon/four intron structure. (ox.ac.uk)
Since it appears that the intron containing errlo is the ancestral opsin gene that gave rise to the intronless rho in the Teleostei, errlo is therefore the true orthologue of the rod opsin gene in other vertebrate classes. (ox.ac.uk)
In combination with the mouse model, this study supports a role for ARHGAP35 in vertebrate ocular development. (nature.com)

A gene therapy called Luxturna ® is a new breakthrough in care for individuals with an inherited retinal dystrophy due to two mutations in the gene RPE65 . (chop.edu)
In 2017, a gene therapy called Luxturna was approved by the U.S. Food and Drug Administration for use in children and adults with retinal disease due to two mutations in the gene RPE65 . (chop.edu)

Aim To examine whether intraocular pressure (IOP) reduction by latanoprost correlates with single nucleotide polymorphisms (SNPs) of the prostaglandin F2α (FP) receptor gene in patients with glaucoma and ocular hypertension (OH). (bmj.com)
Methods The genotype of nine SNPs in the FP receptor gene was determined by direct DNA sequencing, or other techniques, in 82 patients with glaucoma or OH who were treated with latanoprost monotherapy in one eye. (bmj.com)
Conclusions An association was found between SNPs of the FP receptor gene and the response to latanoprost in patients with glaucoma or OH. (bmj.com)
This was possibly due to inferior migration of the bleb where we injected the gene therapy, as patients sat up after the procedure," he said. (aao.org)
The acquisition of Vedere Bio reflects our commitment to next-generation gene therapy and brings hope to patients with otherwise untreatable forms of vision loss. (biospace.com)
Objective To study chronic pain and mental health profiles in patients with dry eye (DE) symptoms, comparing those with high and low levels of neuropathic ocular pain (NOP) complaints. (bmj.com)
Felbor U, Mutsch Y, Grehn F, Müller CR, Kress W. Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase gene. (medscape.com)

KSFD is also believed to be X-linked, which helps prove that the disease is caused by a mutation found in the SAT 1 gene which is located on the X chromosome. (wikipedia.org)
KDSF mostly affects men, which makes sense for it to be an X-linked disease, caused by a mutation of the SAT1 gene. (wikipedia.org)
Comparison of nucleotide sequence of genes in this region revealed a one-nucleotide insertion in the WFDC1 gene, which resulted in a frame shift mutation and premature termination codon at the middle of the protein. (elsevierpure.com)
Determining the specific gene mutation(s) is critical to understand the range of symptoms and treatment possibilities. (chop.edu)
[ 2 , 3 , 4 ] A full list of the described mutations is available at the TBX5 Gene Mutation Database , an online locus-specific database that contains germline and somatic mutations of the TBX5 gene. (medscape.com)

Regardless of which method researchers use, the end goal is to deliver a new gene that can help create a functioning protein and improve vision. (ondrugdelivery.com)
This gene provides instructions for making a protein that plays a role in pigmentation of the eyes and skin. (medlineplus.gov)
Most mutations in the GPR143 gene alter the size or shape of the GPR143 protein. (medlineplus.gov)
Research has shown that the tumor protein known as p53 can specifically target the SAT1 gene that results in ferroptotic cell-death. (wikipedia.org)
What does this gene/protein do? (cancerindex.org)
Mutations of this gene introduce a premature stop codon and result in truncated protein versions. (medscape.com)

PMF1 and NRF2 work together to transcript the SAT1 gene. (wikipedia.org)
However, individual transcript sequences of the same gene can differ through naturally occurring variations (e.g. polymorphisms), each with its own valid existence. (origene.com)

Separation and disruption of the overlying ciliary epithelium decreases its production of aqueous humor with consequent ocular hypotension. (medscape.com)

The primate experiments build upon earlier research that tested Life Biosciences' gene therapy platform in mouse models of glaucoma. (fiercebiotech.com)

Later studies demonstrated the importance of acquired infection in the pathogenesis of ocular toxoplasmosis. (medscape.com)

Ocular manifestations of the NAA10 -related syndrome are not uncommon, although they have not been well characterized in literature reports. (hindawi.com)
Ocular manifestations of the NAA10 -related syndrome have not been well characterized in the literature. (hindawi.com)

Dr. Vivian Lee is a comprehensive ophthalmologist and ocular pathologist. (upenn.edu)

This study presents the first evidence implicating ARHGAP35 in human developmental ocular phenotypes. (nature.com)

The SAT1 gene has implications with NLS-2 Neu-Laxova syndrome, type 2 (NLS). (wikipedia.org)
Mutations in more than a dozen genes have been found to cause Ehlers-Danlos syndrome. (rbht.nhs.uk)
Other, less well-characterised forms of Ehlers-Danlos syndrome result from mutations in additional genes [10] . (rbht.nhs.uk)
In this report, we summarize the ocular features of the syndrome from a systematic review of the literature and additionally present a young female with the syndrome who initially presented with growth restriction, failure to thrive, and hypotonia. (hindawi.com)

Researchers continue to focus on delivery methods that limit inflammation from the gene therapy product itself. (aao.org)

A construct containing the bacterial LacZ gene driven by a fragment of the beta-PDE 5' flanking region (-297 to +53) was used to generate transgenic mice. (nih.gov)
For the study, mice with removed OPTN genes were infected with ocular HSV-1. (scitechdaily.com)

Whilst the ocular rho is intronless in common with other Teleosts, the pineal errlo has the five exon/four intron structure common to the rod opsin gene of other vertebraes. (ox.ac.uk)

Our novel vision restoration approach targets underserved indications and holds great promise to restore lost vision, exceeding the limitations of traditional gene therapy which primarily aim to slow further vision loss. (retinaldegenerationfund.org)
Retinitis pigmentosa (RP) is an inherited neurodegenerative disease involving progressive vision loss, and is often linked to mutations in the rhodopsin gene. (jneurosci.org)

A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. (medlineplus.gov)

The involvement of single-nucleotide polymorphisms (SNPs) in the TLR genes in infectious pathogenicity, including toxoplasmic retinochoroiditis, points at a possible involvement of TLR alterations in immunity against T. gondii . (springer.com)

In contrast to gene therapy, ECT does not modify the host genome. (medgadget.com)

In 1992 at The Johns Hopkins University School of Medicine, Lei Xiao and several others cloned over 4000 base pairs of the region containing the coding sequence of the SAT1 gene also referred to as SSAT-1, SSAT, SAT, KFSD, DC21, KFSDX gene. (wikipedia.org)

Today, it is once again a subject of investigation, as there has been a renaissance in gene therapy in the 21st century, in large part an international team of researchers having sequenced and mapped every gene as part of the Human Genome Project. (ondrugdelivery.com)

Anatomy15

Organisms1

Diseases25

Chemicals and Drugs1

Analytical, Diagnostic and Therapeutic Techniques and Equipment7

Psychiatry and Psychology2

Phenomena and Processes7

Therapies14

Diseases13

Abnormalities4

Associated with Ocular albinism1

People with ocular albinism1

20232

Epithelial cells1

Adeno-assoc2

Cases of ocular2

Autosomal6

Results from mutations3

Oculocutaneous albinism1

Forms of albinism2

Albinism23

Tissue5

Genetic7

Tissues2

Defects2

Retina6

Proteins3

Peripheral1

Molecular2

Company's gene therapy platform1

Caused by mutations2

Severe5

Disorders3

Uveitis2

Musculoskeletal1

Genetics3

Vectors1

Tumors1

Lesions5

Melanoma3

Skeletal1

Variants4

Expression10

Anomalies1

Retinal gene1

Pathology1

Nystagmus1

Systemic1

Vertebrate3

Mutations in the gene2

Patients7

Mutation5

Protein6

Transcript2

Ciliary1

Glaucoma1

Pathogenesis1

Manifestations2

Ophthalmologist1

Phenotypes1

Syndrome4

Inflammation1

Mice2

Exon1

Vision2

Disorder1

Nucleotide1

Contrast1

Coding sequence1

21st1