A5036589255- Retinal Development and Disorders
- Osteoarthritis Treatment and Mechanisms
- Retinal Diseases and Treatments
- Spinal Cord Injury Research
- Muscle activation and electromyography studies
- Total Knee Arthroplasty Outcomes
- Knee injuries and reconstruction techniques
- Stroke Rehabilitation and Recovery
- Bone health and osteoporosis research
- Infrared Thermography in Medicine
- Spaceflight effects on biology
- Prosthetics and Rehabilitation Robotics
- Cerebral Palsy and Movement Disorders
- Retinopathy of Prematurity Studies
- Drug-Induced Ocular Toxicity
- Cellular transport and secretion
- Electromagnetic Fields and Biological Effects
- CRISPR and Genetic Engineering
- Silk-based biomaterials and applications
- Ocular Diseases and Behçet’s Syndrome
- Anatomy and Medical Technology
- Lower Extremity Biomechanics and Pathologies
University of Reading
2019-2022
University College London
2017-2020
Moorfields Eye Hospital
2017-2020
Guy's and St Thomas' NHS Foundation Trust
2020
St Thomas' Hospital
2020
Nuffield Orthopaedic Centre
2016
University of Oxford
2013-2016
Science Oxford
2016
PurposeIn a large cohort of molecularly characterized inherited retinal disease (IRD) families, we investigated proportions with attributable to causative variants in each gene.DesignRetrospective study electronic patient records.ParticipantsPatients and relatives managed the Genetics Service Moorfields Eye Hospital whom molecular diagnosis had been identified.MethodsGenetic screening used combination single-gene testing, gene panel whole exome sequencing, more recently, genome sequencing....
To date, over 150 disease-associated variants in CRB1 have been described, resulting a range of retinal disease phenotypes including Leber congenital amaurosis and retinitis pigmentosa. Despite this, no genotype–phenotype correlations are currently recognised. We performed retrospective review electronic patient records to identify patients with macular dystrophy due bi-allelic CRB1. In total, seven unrelated individuals were identified. The median age at presentation was 21 years, acuity...
To investigate the clinical course, genetic findings, and phenotypic spectrum of autosomal recessive bestrophinopathy (ARB) in a large cohort children adults.Retrospective case series.Patients with detailed phenotype consistent ARB, biallelic likely disease-causing sequence variants BEST1 gene, or both identified at single tertiary referral center.Review notes, retinal imaging (color fundus photography, autofluorescence, OCT), electrophysiologic assessment, molecular testing.Visual acuity...
Retinal dystrophies are a heterogeneous group of disorders visual function leading to partial or complete blindness. We report the genetic basis an unusual retinal dystrophy in five families with affected females and no males. Heterozygous missense variants were identified X-linked phosphoribosyl pyrophosphate synthetase 1 (PRPS1) gene: c.47C > T, p.(Ser16Phe); c.586C p.(Arg196Trp); c.641G C, p.(Arg214Pro); c.640C p.(Arg214Trp). Missense PRPS1 usually associated disease male patients,...
FES assisted activities such as standing, walking, cycling and rowing induce forces within the leg bones have been proposed to reduce osteoporosis in spinal cord injury (SCI). However, details of applied mechanical stimulus for osteogenesis is often not reported. Typically, comparisons bone density results are made after costly time consuming clinical trials. These studies produced inconsistent subject sample size variations. Here we propose a design process that may be used predict outcome...
Articular cartilage exhibits complex mechano-electrochemical behaviour due to its anisotropy, inhomogeneity and material non-linearity. In this work, the thickness radial dependence of properties are incorporated into a 3D model explore relevance heterogeneity in tissue. The considers four essential phenomena: (i) osmotic pressure, (ii) convective diffusive processes, (iii) chemical expansion (iv) three-dimensional through-the-thickness need consider computational simulations manufacturing...
Abstract This paper describes a Functional Electrical Stimulation (FES) standing system for rehabilitation of bone mineral density (BMD) in people with Spinal Cord Injury (SCI). BMD recovery offers an increased quality life SCI by reducing their risk fractures. The developed comprises instrumented frame equipped force plates and load cells, motion capture system, purpose built 16-channel FES unit. can simultaneously record process wide range biomechanical data to produce muscle stimulation...
A training intervention study using standing dynamic load-shifting Functional Electrical Stimulation (FES) in a group of individuals with complete spinal cord injury (SCI) T2 to T10. Investigate the effect FES-assisted exercises on bone mineral density (BMD). University Lab within Biomedical Engineering METHODS: Twelve participants ASIA SCI were recruited for this study. Three completed side-to-side 29 ± 5 weeks, 2× per week 1 h, and FES knee extension alternate days 3× h. Volumetric Bone...