New precision medicine approach for assessing Alzheimer’s disease risk presented at CTAD conference in Boston
Pioneering approach shows wide ranging SNP panel combined with PRS algorithms can reduce screening failure and associated costs in clinical trials
2 November 2017, Oxford & Manchester, UK. Cytox announced that the oral presentation, “Stratification of pre-symptomatic and cognitively normal individuals using polygenic scoring”, was given by Dr Richard Pither, CEO Cytox as part of the 10th CTAD held in Boston, November 1-4, 2017.
The authors are Dr Maryam Shoai, UCL Institute of Neurology, London, United Kingdom; Dr Richard Pither, Cytox Ltd, UK, Oxford, United Kingdom; Professor Valentina Escott-Price, Cardiff University, Cardiff, United Kingdom; Dr Simon M Laws, Edith Cowan University, and Cooperative Research Centre (CRC) for Mental Health, Perth, Australia; Professor Harald Hampel, AXA Research Fund & UPMC Chair, Paris, France; Dr Simone Lista, AXA Research Fund & UPMC, Paris, France; Professor Rik Vandenberghe and Dr Isabelle Cleynen, Katholieke Universiteit Leuven, Leuven, Belgium; Dr David Irwin, Hospital of the University of Pennsylvania, Department of Neurology, University of Pennsylvania, Philadelphia, USA; Professor Vivianna Van Deerlin, Hospital of the University of Pennsylvania, Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, USA; Dr Greg Davidson Ledcourt Associates, United Kingdom; Professor Virginia M-Y Lee and Professor John Q Trojanowski, Centre for Neurodegenerative Disease Research, University of Pennsylvania School of Medicine, Philadelphia, USA; and Professor John Hardy, UCL Institute of Neurology, London, United Kingdom.
The genotyping data derived from a training set of ca. 1700 neuropathologically confirmed cases and controls, consisting of samples from the University of Pennsylvania and the TGEN study, as well as 600 samples from the AIBL study, have been used to derive and test novel polygenic risk score (PRS) algorithms. The initial results indicate that PRS algorithms can be successfully deployed with sensitivities of ca. 90% in order to identify and enrich amyloid-positive individuals from early symptomatic and prodromal cohorts.
The authors concluded that the variaTECT array is currently the most wide-ranging research panel available for the detection of Alzheimer’s disease (AD) informative SNPs. The results of the polygenic risk scoring indicate that the failure rate and associated costs of testing for Aβ-42 cohorts can be significantly reduced with the application of these models, providing a suitable upstream test for clinical trials and identification of those most at risk of developing AD.
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