ORCID Profile
0000-0002-6789-127X
Current Organisations
The University of Auckland
,
Swansea University
Does something not look right? The information on this page has been harvested from data sources that may not be up to date. We continue to work with information providers to improve coverage and quality. To report an issue, use the Feedback Form.
Publisher: Springer Science and Business Media LLC
Date: 04-2022
DOI: 10.1038/S41588-022-01024-Z
Abstract: Characterization of the genetic landscape of Alzheimer’s disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/‘proxy’ AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted microglia implication. Gene prioritization in the new loci identified 31 genes that were suggestive of new genetically associated processes, including the tumor necrosis factor alpha pathway through the linear ubiquitin chain assembly complex. We also built a new genetic risk score associated with the risk of future AD/dementia or progression from mild cognitive impairment to AD/dementia. The improvement in prediction led to a 1.6- to 1.9-fold increase in AD risk from the lowest to the highest decile, in addition to effects of age and the APOE ε4 allele.
Publisher: Public Library of Science (PLoS)
Date: 17-08-2018
Publisher: Springer Science and Business Media LLC
Date: 07-06-2021
DOI: 10.1038/S41467-021-22491-8
Abstract: Genetic discoveries of Alzheimer’s disease are the drivers of our understanding, and together with polygenetic risk stratification can contribute towards planning of feasible and efficient preventive and curative clinical trials. We first perform a large genetic association study by merging all available case-control datasets and by-proxy study results (discovery n = 409,435 and validation size n = 58,190). Here, we add six variants associated with Alzheimer’s disease risk (near APP, CHRNE, PRKD3/NDUFAF7, PLCG2 and two exonic variants in the SHARPIN gene). Assessment of the polygenic risk score and stratifying by APOE reveal a 4 to 5.5 years difference in median age at onset of Alzheimer’s disease patients in APOE ɛ4 carriers. Because of this study, the underlying mechanisms of APP can be studied to refine the amyloid cascade and the polygenic risk score provides a tool to select in iduals at high risk of Alzheimer’s disease.
Publisher: Public Library of Science (PLoS)
Date: 15-07-2022
DOI: 10.1371/JOURNAL.PONE.0271114
Abstract: Knowledge of the challenges unpaid caregivers faced providing care to older people during the COVID-19 pandemic is limited. Challenges may be especially pronounced for those experiencing inequitable access to health and social care. This participatory action research study, located in New Zealand, has four main objectives, (i) to understand the challenges and rewards associated with caregiving to older care recipients during the COVID-19 pandemic restrictions (ii) to map and collate resources developed (or mobilised) by organisations during the pandemic (iii) to co-produce policy recommendations, identify useful caregiver resources and practices, prioritise unmet needs (challenges) and, (iv) to use project results in knowledge translation, in order to improve caregivers access to resources, and raise the profile and recognition of caregivers contribution to society. Māori, Pacific and rural-dwelling caregivers to 30 older care-recipients, and 30 representatives from organisations supporting caregivers in New Zealand will be interviewed. Combining data from the interviews and caregivers letters (from an archive of older people’s pandemic experiences), framework analysis will be used to examine the interrelated systems of the human ecological model and the impact on caregiving experiences during the pandemic. Resources that service providers had created or used for caregivers and older people will be collated and categorised. Through co-production with caregivers and community partners we will produce three short films describing caregivers’ pandemic experiences identify a suite of resources for caregivers to use in future events requiring self-isolation, and in everyday life and generate ideas to address unresolved issues.
Location: United Kingdom of Great Britain and Northern Ireland
Location: United Kingdom of Great Britain and Northern Ireland
Start Date: 2010
End Date: 2016
Funder: Economic and Social Research Council
View Funded Activity