A5010836590- Lysosomal Storage Disorders Research
- Intraocular Surgery and Lenses
- Ocular Diseases and Behçet’s Syndrome
- Retinal Diseases and Treatments
- Connexins and lens biology
- Glaucoma and retinal disorders
- Connective tissue disorders research
- Retinal and Optic Conditions
- Ophthalmology and Visual Impairment Studies
- Ocular Disorders and Treatments
- Biomedical Research and Pathophysiology
- Retinopathy of Prematurity Studies
- Protease and Inhibitor Mechanisms
- Autoimmune and Inflammatory Disorders Research
- Glycogen Storage Diseases and Myoclonus
- Ocular Infections and Treatments
- Retinal Development and Disorders
- Systemic Lupus Erythematosus Research
- Trypanosoma species research and implications
- Mitochondrial Function and Pathology
- Metabolism and Genetic Disorders
- Carbohydrate Chemistry and Synthesis
- Peptidase Inhibition and Analysis
- Genomics and Rare Diseases
- Child Abuse and Related Trauma
Manchester Royal Eye Hospital
2016-2025
University of Manchester
2016-2025
Manchester Academic Health Science Centre
2013-2024
Manchester University NHS Foundation Trust
2019-2024
Nuffield Orthopaedic Centre
2024
King Hussein Medical Center
2024
University Teaching Hospital
2023
Genomics (United Kingdom)
2023
Royal Victoria Hospital
2023
University of Ulster
2023
Fibrillin is the principal structural component of 10-12 nm diameter elastic microfibrils extracellular matrix. We have previously shown that both fibrillin molecules and assembled are susceptible to degradation by serine proteases. In this study, we investigated potential catabolic effects six matrix metalloproteinases (MMP-2, MMP-3, MMP-9, MMP-12, MMP-13 MMP-14) on intact fibrillin-rich isolated from ciliary zonules. Using newly synthesized recombinant molecules, major cleavage sites...
Mucopolysaccharidosis (MPS) IVA or Morquio A syndrome is an autosomal recessive lysosomal storage disorder (LSD) caused by deficiency of the N-acetylgalactosamine-6-sulfatase (GALNS) enzyme, which impairs degradation keratan sulphate and chondroitin-6-sulphate. The multiple clinical manifestations MPS present numerous challenges for management necessitate need individualised treatment. Although treatment guidelines are available, methodology used to develop this guidance has come under...
A key property to consider in all genetic tests is clinical utility, the ability of test influence patient management and health outcomes. Here we assess current utility testing diverse pediatric inherited eye disorders (IEDs).Two hundred one unrelated children (0-5 years old) with IEDs were ascertained through database North West Genomic Laboratory Hub, Manchester, UK. The cohort was collected over a 7-year period (2011-2018) included 74 bilateral cataracts, 8 ectopia lentis, 28 anterior...
A pattern of major and minor congenital anomalies, facial dysmorphic features, neurodevelopmental difficulties, including cognitive social impairments has been reported in some children exposed to sodium valproate (VPA) during pregnancy. Recognition the increased risks utero exposure VPA for malformations, effects particular, taken many years but these are now acknowledged following publication outcomes several prospective studies registries. As with other teratogens, can have variable...
Mucopolysaccharidosis (MPS) VI or Maroteaux-Lamy syndrome (253200) is an autosomal recessive lysosomal storage disorder caused by deficiency in N-acetylgalactosamine-4-sulfatase (arylsulfatase B). The heterogeneity and progressive nature of MPS necessitates a multidisciplinary team approach there need for robust guidance to achieve optimal management. This programme was convened develop evidence-based, expert-agreed recommendations the general principles management, routine monitoring...
Fibrillin is the principal structural component of 10-12 nm diameter elastic microfibrils extracellular matrix. We have previously shown that both fibrillin molecules and assembled are susceptible to degradation by serine proteases. In this study, we investigated potential catabolic effects six matrix metalloproteinases (MMP-2, MMP-3, MMP-9, MMP-12, MMP-13 MMP-14) on intact fibrillin-rich isolated from ciliary zonules. Using newly synthesized recombinant molecules, major cleavage sites...
Individuals who have ocular features of albinism and skin pigmentation in keeping with their familial background present a considerable diagnostic challenge. Timely diagnosis through genomic testing can help avert odysseys facilitates accurate genetic counselling tailored specialist management. Here, we report the clinical gene panel findings 12 children presumed albinism. A definitive molecular was made 8/12 probands (67%) possible identified further 3/12 (25%). TYR most commonly mutated...
We aimed to provide, through the Uveitis in Childhood National Cohort Study, population-based evidence on incidence, distribution and disease characteristics for childhood onset non-infectious uveitis. Eligible children young people (<18 years) were those newly diagnosed with uveitis between 1 March 2020 28 February 2023. Cases identified recruited passive surveillance across a multicentre network. Descriptive analysis of demographic, socioeconomic clinical at diagnosis is reported alongside...