A5005652043- Ophthalmology and Visual Impairment Studies
- American Sports and Literature
- Corneal surgery and disorders
- Health, Environment, Cognitive Aging
- American and British Literature Analysis
- Epigenetics and DNA Methylation
- Birth, Development, and Health
- Retinal Diseases and Treatments
- Genetics and Neurodevelopmental Disorders
- Neural and Behavioral Psychology Studies
- Glaucoma and retinal disorders
- Retinal Imaging and Analysis
- Visual perception and processing mechanisms
- Neuroscience, Education and Cognitive Function
- EEG and Brain-Computer Interfaces
- RNA modifications and cancer
- Folate and B Vitamins Research
- Retinopathy of Prematurity Studies
- Multisensory perception and integration
- Joseph Conrad and Literature
- Public Procurement and Policy
- Cardiovascular Syncope and Autonomic Disorders
- Neural dynamics and brain function
- Gaze Tracking and Assistive Technology
- Infant Development and Preterm Care
ORCID
2023-2024
Cardiff University
2021-2024
University of Bristol
2013-2022
University of California, San Diego
2021
King Edward Memorial Hospital
2021
Purpose: The purpose of this study was to investigate if education contributes the risk myopia because educational activities typically occur indoors or other factors, such as prolonged near viewing. Methods: This a two-sample Mendelian randomization study. Participants were from UK Biobank, Avon Longitudinal Study Parents and Children, Generation R. Genetic variants associated with years spent in time outdoors used instrumental variables. main outcome measures were: (1) spherical equivalent...
High myopia (HM), defined as a spherical equivalent refractive error (SER) ≤ -6.00 diopters (D), is leading cause of sight impairment, through myopic macular degeneration (MMD). We aimed to derive an improved polygenic score (PGS) for predicting children at risk HM and test if PGS predictive MMD after accounting SER.
Abstract Background The majority of epidemiological studies concerning possible adverse effects paracetamol (acetaminophen) in pregnancy have been focussed on childhood asthma. Initial results a robust association confirmed several studies. Recently, few cohort looked at particular neurocognitive outcomes, and implicated hyperactivity. Objectives In order to confirm these findings, further information are required. Here, we assess whether intake between 18 32 weeks gestation is associated...
The locus coeruleus (LC), a nucleus in the pons of brainstem, plays significant role attention and cognitive control. Here, we use an adapted auditory oddball paradigm measured pupil dilation response, to provide marker LC activity humans. In Experiment 1, show event-related responses rare events which were further elevated by task relevant. 2, asking participants silently count number oddballs, demonstrated that task-relevance elevation was not result generation or execution manual...
Refractive errors are associated with a range of pathological conditions, such as myopic maculopathy and glaucoma, highly heritable. Studies missense putative loss function (pLOF) variants identified via whole exome sequencing (WES) offer the prospect directly implicating potentially causative disease genes. We performed genome-wide association study for refractive error in 51 624 unrelated adults, European ancestry, aged 40-69 years from UK genotyped using WES. After testing 29 179 pLOF 495...
Myopia most often develops during school age, with the highest incidence in countries intensive education systems. Interactions between genetic variants and educational exposure are hypothesized to confer susceptibility myopia, but few such interactions have been identified. Here, we aimed identify that interact level myopia. Two groups of unrelated participants European ancestry from UK Biobank were studied. A ‘Stage-I’ sample 88,334 whose refractive error ( avMSE ) was measured by...
Deficiencies of many nutrients in pregnancy have adverse effects on fetal brain development with consequent impaired cognitive function childhood. However, it is unclear whether deficiencies vitamin B12 prenatally are harmful to the developing fetus. We therefore used Avon Longitudinal Study Parents and Children test hypothesis that outcomes childhood reduced if their mothers consumed a diet low during pregnancy. A detailed exposome analysis was identify 9 factors independently associated...
Changes in refractive error during young adulthood is common yet risk factors at this age are largely unexplored. This study explored for these changes, including gene-environmental interactions.Spherical equivalent refraction (SER) and axial length (AL) 624 community-based adults were measured 20 (baseline) 28 years old. Participants genotyped their polygenic scores (PGS) calculated. Self-reported screen time (computer, television, mobile devices) from to old collected prospectively...
Purpose: Emmetropization requires coordinated scaling of the major ocular components, corneal curvature and axial length. This coordination is achieved in part through a shared set genetic variants that regulate eye size. Poorly length results refractive error. We tested hypothesis regulating size emmetropic eyes are distinct from those conferring susceptibility to Methods: A genome-wide association study (GWAS) for 22,180 adult individuals was performed as proxy GWAS polygenic score created...
The probability of an event occurring and the reward associated with can both modulate behaviour. Response times are decreased to stimuli that either more rewarding or likely. These two factors be combined give Expected Value (EV) (i.e., x magnitude). In four experiments we investigate effect on saccadic manual responses. When tested separately find evidence for a across response types. manipulations magnitude were combined, modulations dominated these data not well accounted by EV. However,...
<ns4:p>The FRAXA and FRAXE alleles of the FMR1 FMR2 genes located on X chromosome contain varying numbers trinucleotide repeats. Large repeats at (full mutations) manifest as Fragile syndrome, associated with mental impairment that affects males more severely. In this paper, we present dataset frequencies repeat size extracted from DNA samples collected boys enrolled in Avon Longitudinal Study Parents Children (ALSPAC). data were ALSPAC clinics several types samples: cord blood, venepuncture...
Abstract Parents pass on both their genes and environment to offspring, prompting debate about the relative importance of nature versus nurture in inheritance complex traits. Advances molecular genetics now make it possible quantify an individual’s genetic predisposition a trait via his or her ‘polygenic score’. However, part risk captured by polygenic score may actually be attributed genotype parents. In most well-studied example this indirect ‘genetic nurture’ effect, half contribution...
<ns4:p>Background The FRAXE site on the X-chromosome has a variable number of trinucleotide repeats. rare condition Fragile XE >200 repeats, but most X chromosomes have <60 such with evidence bimodal distribution. It is known that when repeats <60, repeat can increase from mother to son, which raises question as whether there an evolutionary advantage in size these This paper investigates higher are associated neurocognitive differences among boys general population. We hypothesised...
Purpose: Lifestyle risk factors are implicated in driving the current surge myopia prevalence yet, paradoxically, known explain little of variation refractive error population. Here, we applied "instrumental variable" (IV) methods designed to avoid reverse causation and decrease confounding bias, gauge lifestyle factor effect sizes. Methods: Three (time outdoors, time reading, sleep duration) were assessed participants Avon Longitudinal Study Parents Children: a cross-sectional sample 2302...
<ns4:p>The FRAXA and FRAXE alleles of the FMR1 FMR2 genes located on X chromosome contain varying numbers trinucleotide repeats. Large repeats at (full mutations) manifest as Fragile syndrome, associated with mental impairment that affects males more severely. In this paper, we present dataset frequencies repeat size extracted from DNA samples collected boys enrolled in Avon Longitudinal Study Parents Children (ALSPAC). data were ALSPAC clinics several types samples: cord blood, venepuncture...
Abstract Children with Special Educational Needs (SEN) often have impaired eye movement control which can impact on a wide range of everyday activities including in the classroom, socialising, participation sport or crossing road. Although some health practitioners offer therapies these tend not to been systematically developed evaluated. We new app deliver training, based detailed scientific understanding and extensive clinical experience this patient group. first investigated acceptability...
The FRAXE section of the FMR2 gene, located on X chromosome, contains varying numbers trinucleotide repeats; boys with over 200 repeats tend to have mild cognitive impairments, though this is rare. Little known, however, concerning phenotypes individuals smaller repeats. Here we answer research question as whether health ancestors from whom relevant chromosome was inherited differed in any way according number Numbers 5057 Avon Longitudinal Study Parents and Children (ALSPAC) were assessed....