Australian Genomics is a national collaborative research partnership of more than 80 organizations piloting a whole-of-system approach to integrating genomics into healthcare that is based on federation principles. The aim of Australian Genomics is to assess the application of genomic testing in healthcare at the translational interface between research and clinical delivery, with an emphasis on robust evaluation of outcomes. It encompasses two bodies of work: a research program prospectively providing genomic testing through exemplar clinical projects in rare diseases, cancers, and reproductive carrier screening and interdependent programs for advancing the diagnostic, health informatics, regulatory, ethical, policy, and workforce infrastructure necessary for the integration of genomics into the Australian health system.
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http://dx.doi.org/10.1016/j.ajhg.2019.06.003 | DOI Listing |
JAMA Netw Open
December 2024
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis.
Importance: Identification of individuals at high risk of alcohol use disorder (AUD) and subsequent application of prevention and intervention programs has been reported to decrease the incidence of AUD. The polygenic score (PGS), which measures an individual's genetic liability to a disease, can potentially be used to evaluate AUD risk.
Objective: To assess the estimability and generalizability of the PGS, compared with family history and ADH1B, in evaluating the risk of AUD among populations of European ancestry.
Alzheimers Dement
December 2024
Edith Cowan University, Joondalup, Australia; Australian E-Health Research Centre, CSIRO, Perth, Western Australia, Australia.
Background: A growing body of research has confirmed the presence of epigenetic alterations in Alzheimer's disease (AD). While the causal relationship between these changes and AD remains uncertain, they offer a novel avenue to explore potential treatments. In this study, we aimed at characterising the methylation signatures of amyloid beta (Aβ) deposition, one of the main hallmarks of AD.
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December 2024
The Florey Institute of Neuroscience and Mental Health, Melbourne, VIC, Australia.
Background: Plasma phospho-tau biomarkers, such as p217+tau, excel at identifying Alzheimer's Disease (AD) neuropathology. However, questions remain regarding their capacity to inform AD biological PET stages at group level and maintain the same precision at individual patient level.
Method: Participants included 248 cognitively unimpaired (CU) and 227 cognitively impaired (CI) individuals, with Janssen plasma p217+tau Simoa® assay, F-NAV4694 Aβ PET (A) and F-MK6240 tau PET (T) data.
Alzheimers Dement
December 2024
The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, VIC, Australia.
Background: In early Alzheimer's disease (AD), amyloid-β (Aβ) accumulation is associated with volume loss in the basal forebrain (BF) and cognitive decline. However, the extent to which Aβ-related BF atrophy manifests as cognitive decline is not understood. This study sought to characterize the relationships between Aβ burden, BF atrophy, and the decline in memory and attention in older individuals without dementia.
View Article and Find Full Text PDFAlzheimers Dement
December 2024
Centre for Precision Health, Edith Cowan University, Joondalup, Western Australia, Australia.
Background: Epigenome-wide association studies (EWAS) have identified multiple loci that are differentially methylated in Alzheimer's disease (AD). However, for complex diseases such as AD, single methylation sites associated with disease and disease-related traits have relatively low effect sizes. At the genetic level, measures of cumulative genetic risk, such as polygenetic risk scores, have yielded success in risk prediction as well as in association and interaction studies.
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