A5032230514- Retinal Development and Disorders
- Retinal Diseases and Treatments
- Corneal surgery and disorders
- Glaucoma and retinal disorders
- RNA regulation and disease
- Ocular Disorders and Treatments
- Corneal Surgery and Treatments
- Genomic variations and chromosomal abnormalities
- interferon and immune responses
- Connexins and lens biology
- Diet, Metabolism, and Disease
- Advanced biosensing and bioanalysis techniques
- Ubiquitin and proteasome pathways
- Genomics and Rare Diseases
- Cellular transport and secretion
- melanin and skin pigmentation
- Ocular Surface and Contact Lens
- Retinal Imaging and Analysis
- Metabolism and Genetic Disorders
- Intraocular Surgery and Lenses
- Monoclonal and Polyclonal Antibodies Research
- Wnt/β-catenin signaling in development and cancer
- Pancreatic function and diabetes
- Inflammasome and immune disorders
- Biochemical Analysis and Sensing Techniques
University of Leeds
2015-2024
St James's University Hospital
2012-2023
Wellcome Trust
2019-2023
University of Birmingham
2022
Osaka University
2022
Genomics England
2022
University College London
2012-2019
Institute of Molecular Medicine
2018
Institute of Biomedical Science
2017
Universidad Nacional Autónoma de México
2013
Familial exudative vitreoretinopathy (FEVR) is a genetically heterogeneous disorder characterized by abnormal vascularization of the peripheral retina, which can result in retinal detachment and severe visual impairment. In large Dutch FEVR family, we performed linkage analysis, exome sequencing, segregation analysis DNA variants. We identified putative disease-causing variants proline-alanine-rich ste20-related kinase (c.791dup; p.Ser265ValfsX64) zinc finger protein 408 (ZNF408) (c.1363C>T;...
Retinitis pigmentosa (RP) is the most frequent form of inherited retinal dystrophy. RP genetically heterogeneous and genes identified to date encode proteins involved in a wide range functional pathways, including photoreceptor development, phototransduction, retinoid cycle, cilia, outer segment development. Here we report identification biallelic mutations Receptor Expression Enhancer Protein 6 (REEP6) seven individuals with autosomal-recessive from five unrelated families. REEP6 member...
To investigate an association between genotype for three single nucleotide polymorphisms strongly associated with the development of age-related macular degeneration (AMD) and early response to treatment intravitreal ranibizumab neovascular AMD.Best corrected visual acuity letter score was recorded at baseline each subsequent visit. Age, sex, smoking history, lesion type number injections were also recorded. Genotypes obtained rs11200638 in HTRA1, rs1061170 CFH rs1413711 VEGF. Data analysed...
The atonal homolog 7 (ATOH7) gene encodes a transcription factor involved in determining the fate of retinal progenitor cells and is particularly required for optic nerve ganglion cell development. Using combination autozygosity mapping next generation sequencing, we have identified homozygous mutations this gene, p.E49V p.P18RfsX69, two consanguineous families diagnosed with multiple ocular developmental defects, including severe vitreoretinal dysplasia, hypoplasia, persistent fetal...
A mutation miR-184(+57C>T) in the seed region of miR-184 (encoded by MIR184 [MIM*613146]) results familial severe keratoconus combined with early-onset anterior polar cataract and endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning (EDICT) syndrome (MIM#614303). In order to investigate phenotypic spectrum resulting from mutation, was sequenced a cohort mixed ethnicity Chinese axial myopia cohort.Sequencing performed 780 unrelated patients 96 Han southern subjects...
Cone-rod dystrophy (CRD) is an inherited progressive retinal affecting the function of cone and rod photoreceptors. By autozygosity mapping, we identified null mutations in ADAM metallopeptidase domain 9 (ADAM9) gene four consanguineous families with recessively early-onset CRD. We also found reduced photoreceptor responses Adam9 knockout mice, previously reported to be asymptomatic. In 12-month-old photoreceptors appear normal, but apical processes pigment epithelium (RPE) cells are...
Two common classes of deletions are described in the literature individuals with Prader-Willi/Angelman syndrome (PWS/AS): one between breakpoint 1 (BP1) to BP3 and other BP2 PWS/AS critical region on chromosome 15q11→q13. We present here a novel observation an approximately 253-kb deletion BP1 15q11.2, 3½-year-old boy, who was referred us clinical suspicion having Angelman presenting mental retardation, neurological disorder, developmental delay speech impairment. Karyotype FISH results were...
Anterior segment dysgenesis describes a group of heterogeneous developmental disorders that affect the anterior chamber eye and are associated with an increased risk glaucoma. Here, we report homozygous mutations in peroxidasin (PXDN) two consanguineous Pakistani families congenital cataract-microcornea mild to moderate corneal opacity Cambodian family glaucoma severe opacification. These results highlight diverse ocular phenotypes caused by PXDN mutations, which likely due differences...
Purpose.: Familial exudative vitreoretinopathy (FEVR) is an inherited disorder that disrupts the development of retinal vasculature and can result in blindness. FEVR genetically heterogeneous mutations four genes, NDP, FZD4, LRP5, TSPAN12, encoding components a novel ligand-receptor complex activates Norrin-β-catenin signaling pathway, account for approximately 50% cases. We recently identified TSPAN12 as cause dominant FEVR. The purpose this study was to identify recessive patients....
PurposeDetermining the role of DYNC2H1 variants in nonsyndromic inherited retinal disease (IRD).MethodsGenome and exome sequencing were performed for five unrelated cases IRD with no identified variant. In vitro assays developed to validate (fibroblast assay, induced pluripotent stem cell [iPSC] derived organoids, a dynein motility assay).ResultsFour novel (V1, g.103327020_103327021dup; V2, g.103055779A>T; V3, g.103112272C>G; V4, g.103070104A>C) one previously reported variant (V5,...
Introduction: Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are two groups of inherited retinal diseases (IRDs) where the rod photoreceptors degenerate followed by cone retina. A genetic diagnosis for IRDs is challenging since >280 genes associated with these conditions. While whole exome sequencing (WES) commonly used diagnostic facilities, costs required infrastructure prevent its global applicability. Previous studies have shown cost-effectiveness sequence analysis using...
Objective To investigate a possible association between functional polymorphism in the intermediate-affinity receptor for IgG called Fcγ type IIIA (FcγRIIIA [CD16]) and rheumatoid arthritis (RA). Methods This was an allelic study which single nucleotide FcγRIIIA examined as susceptibility and/or severity factor RA. The FcγRIIIA-158V/F genotyped by direct sequencing 2 well-characterized ethnic groups, UK Caucasians (141 RA patients 124 controls) North Indians Pakistanis (108 113 controls)....
Purpose: Homozygous mutations in SLC4A11 cause 2 rare recessive conditions: congenital hereditary endothelial dystrophy (CHED), affecting the cornea alone, and Harboyan syndrome consisting of corneal sensorineural hearing loss. In addition, adult-onset Fuchs (FECD) is associated with dominant SLC4A11. this report, we investigate whether patients CHED go on to develop loss their parents, who are carriers an mutation, show signs having FECD. Methods: Patients were screened for gene underwent...
<h3>Importance</h3> A large number of genes can cause inherited retinal degenerations when mutated. It is important to identify the disease for a better prognosis and possible gene-specific therapeutic intervention. <h3>Objective</h3> To in families with nonsyndromic retinitis pigmentosa. <h3>Design, Setting, Participants</h3> Patients family members were recruited study underwent clinical evaluation genetic analyses. <h3>Main Outcomes Measures</h3> Identification sequence variants using...