One of the areas that Prof Kennedy works in is zebrafish and how they can be used to study inherited retinal diseases (IRDs). (fightingblindness.ie)
The Company is focused on building the world's leading gene therapy company for the treatment of inherited retinal diseases. (synconaltd.com)
Retina2
1 While the fundus findings may be predominantly located at the central retina, in the vast majority of MDs there is psychophysical, electrophysiological or histopathological evidence of more widespread, generalised retinal involvement. (bmj.com)
When disrupted, it gives a range of phenotypes such as early-onset severe retinal dystrophy/Leber congenital amaurosis (EOSRD/LCA), retinitis pigmentosa (RP), cone-rod dystrophy (CORD) and macular dystrophy (MD). Studies in CRB1 retinopathies have shown thickening and coarse lamination of retinal layers resembling an immature retina. (bvsalud.org)
Congenital6
There are several types of congenital blindness and other diseases that are present at birth and result in immediate or early blindness. (healthline.com)
Good prenatal care can help prevent some forms of congenital blindness, but many are the result of genetically programmed disorders that can't be avoided. (healthline.com)
If you have a family history of congenital blindness, or conditions that can lead to childhood blindness, your healthcare team may be able to provide screenings that can give you an idea of how likely you may be to pass these conditions on to your children. (healthline.com)
Leber congenital amaurosis may also be associated with mutations in genes linked to other syndromes presenting with neurodevelopmental delay, intellectual disability, apraxia (eye movement difficulty) and renal dysfunction. (oligofastx.com)
There are 17 or so subtypes of genetic or permanent Leber's congenital amaurosis, which are caused by mutations in different genes, although there are 30% of causes that are still under investigation. (oligofastx.com)
XLRP is a rare orphan disease resulting from a congenital genetic defect and one of the most common causes of blindness in young people. (synconaltd.com)
Mutations9
In this report, we describe using NGS to identify multiple disease-causing mutations that contribute concurrently or independently to retinal dystrophy in three relatively small families. (molvis.org)
Retinal gene-targeted NGS in the fourth affected family member revealed compound heterozygous mutations in USH2A (p. (molvis.org)
1 n.p.) identified three retinal dystrophy genes ( PRPH2 , PRPF8 , and USH2A ) with disease-causing mutations in varying combinations among the affected family members. (molvis.org)
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)
However, in IRDs due to the high level of genetic heterogeneity, the interpretation of variants (gene mutations) can be very difficult. (fightingblindness.ie)
In some cases, vision loss happens as a result of the natural aging process, or you may be born with vision impairment due to genetic mutations. (healthline.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)
Cone Rod Dystrophy is an inherited condition, which means it develops due to genetic mutations passed down from parents to their children. (esighteyewear.com)
Gaucher disease: an inherited autosomal recessive lysosomal storage disease that is diagnosed in patients with both reduced activity of acid β-glucosidase and mutations in the GBA1 gene. (healthcaremea.com)
Diseases6
Retinal dystrophies are a genetically and phenotypically heterogeneous collection of eye diseases disturbing the function of photoreceptor cells and subsequently leading to loss of vision. (molvis.org)
Cone Rod Dystrophy (CRD) is an umbrella disorder that encompasses more than 30 variants of inherited diseases. (esighteyewear.com)
Inherited retinal dystrophies (IRD): is a diverse group of progressive blinding genetic diseases that can present from birth through to late middle age. (healthcaremea.com)
The company under it AAV based gene therapy has managed to scope its focus on ocular related complications and CNS diseases. (healthcaremea.com)
CTx-GBA1, set to treat parkinson's and neuronopathic Gaucher diseases, utilizes a coAAV vector to deliver a gene sequence encoding functional GCase enzyme. (healthcaremea.com)
Lens diseases refer to conditions that affect the lens of the eye, impairing vision and potentially leading to blindness if left untreated. (lookformedical.com)
Mutation4
Furthermore, this finding underscores that caution should be taken when attributing a single gene disease-causing mutation (or inheritance pattern) to a family as a whole. (molvis.org)
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)
One example is a specific form of retinal dystrophy caused by a mutation in the RPE65 gene. (healthline.com)
To date, 256 genes listed in RetNet have been associated with syndromic and non-syndromic retinal dystrophies, which can be inherited as an autosomal-recessive, autosomal-dominant, or X-linked trait ( RetNet ). (molvis.org)
The aim of this review was to provide an update on MDs, including Stargardt disease, Best disease, X-linked r etinoschisis, pattern dystrophy, Sorsby fundus dystrophy and autosomal dominant drusen. (bmj.com)
This review provides an update on monogenic MD and discusses the the most common subtypes, including Stargardt disease (STGD), Best disease (BD), X-linked retinoschisis (XLRS), autosomal dominant drusen (ADD), Sorsby fundus dystrophy (SFD) and pattern dystrophy (PD). (bmj.com)
Therapies8
Using tropical fish to develop Gene therapies: what can we learn? (fightingblindness.ie)
The available therapies for IRDs are limited, with only one gene therapy being available, approved by European Medicines Agency (EMA) and U.S. Food and Drug Administration (FDA), called Luxturna (also called voretigene neparvovec-rzyl). (fightingblindness.ie)
Prof. Kennedy's recent review article describes the use of zebrafish as a model both for the development of gene therapies for IRDs as well as a potential diagnostic tool. (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)
In terms of cures, there are new gene therapies that have been designed to treat some of these conditions. (healthline.com)
New treatments in various phases of development also offer hope, including gene and stem cell therapies. (healthline.com)
LONDON--(BUSINESS WIRE) -- NightstaRx Ltd ("Nightstar"), a biopharmaceutical company specialising in developing gene therapies for inherited retinal dystrophies, today announces that the Company has commenced enrolling and dosing subjects in a Phase I/II clinical trial to treat patients with X-Linked Retinitis Pigmentosa (XLRP). (synconaltd.com)
Nightstar is a private biopharmaceutical company, spun-out from the University of Oxford in 2014, focused on the development of therapies for retinal dystrophies. (synconaltd.com)
Disease10
With recent availability of next-generation sequencing (NGS), it is becoming more common to pursue disease-targeted panel testing rather than traditional sequential gene-by-gene dideoxy sequencing. (molvis.org)
Initial genetic analysis was performed on one family member with traditional Sanger single gene sequencing and/or panel-based testing, and ultimately, retinal gene-targeted NGS was required to identify the underlying cause of disease for individuals within the three families. (molvis.org)
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)
In some cases, these treatments may just help to prevent additional disease progression or vision loss. (healthline.com)
The earliest symptom in RP is most commonly night blindness and is considered a hallmark of the disease. (medscape.com)
Robert MacLaren, Professor of Ophthalmology at the University of Oxford and principal investigator, commented: "X-linked retinitis pigmentosa is a devastating disease of early onset which leads to blindness in males. (synconaltd.com)
X-linked retinitis pigmentosa (XLRP) is an inherited X-linked recessive disease that inevitably leads to blindness in adult men, most often by the end of their fourth decade. (synconaltd.com)
The developments in high-resolution multimodal retinal imaging have also transformed our ability to make accurate and more timely diagnoses and more sensitive quantitative assessment of disease progression, and allowed the design of optimised clinical trial endpoints for novel therapeutic interventions. (bmj.com)
It highlights the range of innovations in retinal imaging, genotype-phenotype and structure-function associations, animal models of disease and the multiple treatment strategies that are currently in clinical trial or planned in the near future, which are anticipated to lead to significant changes in the management of patients with MDs. (bmj.com)
Cone Rod Dystrophy (CRD) is a genetic retinal disease that affects people both young and old. (esighteyewear.com)
CORD1
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)
Genetic2
However, not all causes of blindness can be cured or even treated to help restore vision through laser treatment, correction surgery, genetic engineering, or stem cell therapy. (healthline.com)
This syndrome is caused by a mitochondrial genetic defect, and vision loss tends to occur later in life with moderate visual field loss and night vision difficulties. (medscape.com)
Pigmentary1
Cone-rod retinal degenerations present with central macular pigmentary changes (bull's eye maculopathy). (medscape.com)
20231
this information is from a 2023 scientific review article that came out of a project led by Prof Kennedy in part funded by Fighting Blindness. (fightingblindness.ie)
Retinitis2
Retinitis pigmentosa (RP) is a group of inherited disorders characterized by progressive peripheral vision loss and night vision difficulties (nyctalopia) that can lead to central vision loss. (medscape.com)
The gene therapy approach being used employs best in class innovation, using a viral vector known as adeno-associated virus (AAV) to deliver a codon-optimised copy of the retinitis pigmentosa GTPase regulator (RPGR) gene into cells of the eye, a first for clinical testing. (synconaltd.com)
Peripheral2
[ 5 ] Choroideremia and gyrate atrophy typically present with large scalloped areas of peripheral retinal atrophy. (medscape.com)
At later stages of deterioration, night blindness can occur, making reading and other close-up work difficult, including actions that require the use of peripheral visual fields. (esighteyewear.com)
Cone4
Family 3 (FAM3) consisted of a large family with a diagnosis of RP and an overall dominant pedigree, but the proband had phenotypically cone-rod dystrophy. (molvis.org)
Bull's eye maculopathy seen in cone dystrophy. (medscape.com)
In this article, you will learn about Cone Rod Dystrophy diagnosis, symptoms, risks, and treatments, including some novel studies and technologies at the frontier of CRD. (esighteyewear.com)
This is in contrast to types of Cone Rod Dystrophy, where the cone is first to degenerate. (esighteyewear.com)
Commonly1
Retinal detachment occurs more commonly in men than in women, in eyes with degenerative myopia, in aging and in aphakia. (lookformedical.com)
Heterogeneous1
Macular dystrophies (MDs) consist of a heterogeneous group of disorders that are characterised by bilateral symmetrical central visual loss. (bmj.com)
Disorders1
Macular dystrophies (MDs) are a group of inherited retinal disorders that cause significant visual loss, most often as a result of progressive macular atrophy. (bmj.com)
Treatments1
This article will review some of the most common causes of blindness that can be cured and what treatments could offer for people experiencing complete vision loss. (healthline.com)
Affects1
The Company's lead programme is a retinal gene therapy for choroideremia, a rare inherited cause of blindness that affects around 1 in 50,000 people. (synconaltd.com)
There are more than 200 genes associated with IRDs and due to this high heterogeneity between different IRD patients, correct diagnosis is complicated. (fightingblindness.ie)
Patients2
Genome sequencing has been available to patients making it possible to identify which genes cause certain conditions. (fightingblindness.ie)
Patients might report difficulties with tasks at night or in dark places, such as trouble walking in dim lit rooms (eg, movie theaters). (medscape.com)
Rods2
Cones (allow daytime vision and colour vision) and rods (allow vision at night or in dimly lit places). (oligofastx.com)
Rods work at very low light levels-they are the cells you use for night vision. (esighteyewear.com)
Acuity3
Ocular examination involves assessment of visual acuity and pupillary reaction, as well as anterior segment, retinal, and funduscopic evaluation. (medscape.com)
Common early symptoms include difficulty seeing at night in young males and a progressive loss in the visual field and acuity. (synconaltd.com)
Therapy4
Gene therapy is a promising treatment that's currently under investigation to treat the causes of vision loss and even restore sight. (healthline.com)
Each patient will receive a single subretinal injection of AAV-XLRPGR gene therapy. (synconaltd.com)
however, there is hope that new developments in medical gene therapy will see future regeneration possibilities. (esighteyewear.com)
CTx-PDE6b is among the AAV based gene therapy expected to treat PDE6b RP, an inherited retinal dystrophy that leads to blindness by midlife characterized by the progressive loss of photoreceptors and is currently in Phase I/II clinical trials. (healthcaremea.com)
Familial1
146690 ) have been identified in familial cases of both adRP and arRP. (molvis.org)
The CRB1 gene plays a role in retinal development and its maintenance. (bvsalud.org)
Study2
This is a cohort case-control study. (bvsalud.org)
In this study, 104 cases were divided into clinical and suspected sepsis groups according to the evaluation at the 24th hour after delivery. (bvsalud.org)