Collaborative Research and Development of a Novel, Patient-Centered Digital Platform (MyEyeSite) for Rare Inherited Retinal Disease Data: Acceptability and Feasibility Study

Background: Inherited retinal diseases (IRDs) are a leading cause of blindness in children and working age adults in the United Kingdom and other countries, with an appreciable socioeconomic impact. However, by definition, IRD data are individually rare, and as a result, this patient group has been underserved by research. Researchers need larger amounts of these rare data to make progress in this field, for example, through the development of gene therapies. The challenge has been how to find and make these data available to researchers in the most productive way. MyEyeSite is a research collaboration aiming to design and develop a digital platform (the MyEyeSite platform) for people with rare IRDs that will enable patients, doctors, and researchers to aggregate and share specialist eye health data. A crucial component of this platform is the MyEyeSite patient application, which will provide the means for patients with IRD to interact with the system and, in particular, to collate, manage, and share their personal specialist IRD data both for research and their own health care. / Objective: This study aims to test the acceptability and feasibility of the MyEyeSite platform in the target IRD population through a collaborative patient-centered study. / Methods: Qualitative data were generated through focus groups and workshops, and quantitative data were obtained through a survey of patients with IRD. Participants were recruited through clinics at Moorfields Eye Hospital National Health Service (NHS) Foundation Trust and the National Institute for Health Research (NIHR) Moorfields Biomedical Research Centre through their patient and public involvement databases. / Results: Our IRD focus group sample (n=50) highlighted the following themes: frustration with the current system regarding data sharing within the United Kingdom’s NHS; positive expectations of the potential benefits of the MyEyeSite patient application, resulting from increased access to this specialized data; and concerns regarding data security, including potentially unethical use of the data outside the NHS. Of the surveyed 80 participants, 68 (85%) were motivated to have a more active role in their eye care and share their data for research purposes using a secure technology, such as a web application or mobile app. / Conclusions: This study demonstrates that patients with IRD are highly motivated to be actively involved in managing their own data for research and their own eye care. It demonstrates the feasibility of involving patients with IRD in the detailed design of the MyEyeSite platform exemplar, with input from the patient with IRD workshops playing a key role in determining both the functionality and accessibility of the designs and prototypes. The development of a user-centered technological solution to the problem of rare health data has the potential to benefit not only the patient with IRD community but also others with rare diseases

Gelatinous Zooplankton Biomass In the Global Oceans: Geographic Variation and Environmental Drivers

Aim Scientific debate regarding the future trends, and subsequent ecological, biogeochemical and societal impacts, of gelatinous zooplankton (GZ) in a changing ocean is hampered by lack of a global baseline and an understanding of the causes of biogeographic patterns. We address this by using a new global database of GZ records to test hypotheses relating to environmental drivers of biogeographic variation in the multidecadal baseline of epipelagic GZ biomass in the world\u27s oceans. Location Global oceans. Methods Over 476,000 global GZ data and metadata items were assembled from a variety of published and unpublished sources. From this, a total of 91,765 quantitative abundance data items from 1934 to 2011 were converted to carbon biomass using published biometric equations and species-specific average sizes. Total GZ, Cnidaria, Ctenophora and Chordata (Thaliacea) biomass was mapped into 5° grid cells and environmental drivers of geographic variation were tested using spatial linear models. Results We present JeDI (the Jellyfish Database Initiative), a publically accessible database available at http://jedi.nceas.ucsb.edu. We show that: (1) GZ are present throughout the world\u27s oceans; (2) the global geometric mean and standard deviation of total gelatinous biomass is 0.53 ± 16.16 mg C m−3, corresponding to a global biomass of 38.3 Tg C in the mixed layer of the ocean; (3) biomass of all gelatinous phyla is greatest in the subtropical and boreal Northern Hemisphere; and (4) within the North Atlantic, dissolved oxygen, apparent oxygen utilization and sea surface temperature are the principal drivers of biomass distribution. Main conclusions JeDI is a unique global dataset of GZ taxa which will provide a benchmark against which future observations can be compared and shifting baselines assessed. The presence of GZ throughout the world\u27s oceans and across the complete global spectrum of environmental variables indicates that evolution has delivered a range of species able to adapt to all available ecological niches

Can artificial intelligence accelerate the diagnosis of inherited retinal diseases? Protocol for a data-only retrospective cohort study (Eye2Gene)

INTRODUCTION: Inherited retinal diseases (IRD) are a leading cause of visual impairment and blindness in the working age population. Mutations in over 300 genes have been found to be associated with IRDs and identifying the affected gene in patients by molecular genetic testing is the first step towards effective care and patient management. However, genetic diagnosis is currently slow, expensive and not widely accessible. The aim of the current project is to address the evidence gap in IRD diagnosis with an AI algorithm, Eye2Gene, to accelerate and democratise the IRD diagnosis service. METHODS AND ANALYSIS: The data-only retrospective cohort study involves a target sample size of 10 000 participants, which has been derived based on the number of participants with IRD at three leading UK eye hospitals: Moorfields Eye Hospital (MEH), Oxford University Hospital (OUH) and Liverpool University Hospital (LUH), as well as a Japanese hospital, the Tokyo Medical Centre (TMC). Eye2Gene aims to predict causative genes from retinal images of patients with a diagnosis of IRD. For this purpose, 36 most common causative IRD genes have been selected to develop a training dataset for the software to have enough examples for training and validation for detection of each gene. The Eye2Gene algorithm is composed of multiple deep convolutional neural networks, which will be trained on MEH IRD datasets, and externally validated on OUH, LUH and TMC. ETHICS AND DISSEMINATION: This research was approved by the IRB and the UK Health Research Authority (Research Ethics Committee reference 22/WA/0049) 'Eye2Gene: accelerating the diagnosis of IRDs' Integrated Research Application System (IRAS) project ID: 242050. All research adhered to the tenets of the Declaration of Helsinki. Findings will be reported in an open-access format

Experimental investigations into the motions of vessels, less than twenty metres in length, stationed at single point moorings.

The Royal National Lifeboat Institution (RNLI) is an independent charity whose purpose is to save lives at sea and end preventable loss of life. In order to achieve these goals 21 of their all-weather lifeboats are moored permanently to a single point mooring (SPM) and a further 19 lifeboat stations have a reserve secondary mooring. On the 23 rd March 2008 a Trent class lifeboat slipped her mooring and was damaged beyond economic repair and there are also numerous media reports of vessels breaking free from their coastal harbour SPMs resulting in damage and/or rescue crews being called out. The motivations for the experimental work presented in this thesis are the reported loss of human life and damage to vessels together with the lack of consistent SPM configurations. This project is aimed at an improved understanding of the motions experienced by a lifeboat and buoy in order to gain insight into the key factors which effect a SPM in order to provide guidance for full scale. Three changes in SPM configuration have been investigated namely: three changes in mooring line (hawser) length, two scales of mooring buoy and five shapes of mooring buoy. The novel contributions of this research include: (1) a detailed breakdown of the literature examining the motions of vessels at SPMs, (2) the creation and validation of a portable method of motion capture which can be used for small scale laboratory testing and in-situ full scale data recording, (3) experimental data on the effects of changes in buoy shape and size upon the motions experienced by a lifeboat the results of which suggest that the introduction of a twice scale buoy reduces the risk of mooring failure by reducing the motions of a lifeboat at a SPM, (4) investigations into the coupling of the 6 degrees of freedom motions of a model lifeboat moored in regular waves the results of which show that increasing the wavelength to longer than the length overall of the model leads to a breakdown in the coupling between surge-pitch, surge-heave and heave-pitch and (5) in-situ motion data, for both vessel and buoy, from a full scale lifeboat at a SPM the results of which indicate that it is passing harbour traffic that produces the peak excursions and therefore the RNLI’s SPMs should be positioned as far as is operationally practical from shipping routes. These experimental results and in situ measurements will contribute to improving the RNLI’s design and operation of its SPM. Furthermore these techniques are of use to Harbour Commissions monitoring the safe mooring of vessels e.g. the validated algorithm could be used to notify of extreme motions at a SPM via video surveillance

Experimental investigations into the current-induced motion of a lifeboat at a single point mooring

This paper presents a series of model experiments on the current-induced motions of a 1:40 scale lifeboat at a single point mooring (SPM). The influence upon vessel and buoy motion of the mooring configuration factors of (a) three mooring line (hawser) lengths, (b) four buoy shapes and (c) two buoy sizes have been investigated.A motion tracking algorithm was successfully employed and validated against data from an inertial measuring unit allowing small scale testing without the influence of instrument cabling. The results show that the dominanttranslational motion, of the model lifeboat at a SPM, is sway and the rotational motion is yaw, with double pendulum-like fishtailing behaviour prevalent. Increasing the hawser length, when no buoy was present, resulted in an increase in the vessel's sway velocity. No significant effects on vessel motion were observed from changes in the shape of the 1:40 and 1:20 scale buoys. However, the presence and increasing size of the buoy was found to increase the sway velocity of the buoy and reduce the motions of the model lifeboat. These results suggest that changes in buoy size influence the motions of the model lifeboat which may enable mooring efficacy to be improved