Paper accepted in AJRCCM!

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Mar 142018

Our paper with the title “Predicting outcome in idiopathic pulmonary fibrosis using automated CT analysis” was accepted in AJRCCM!

Joseph Jacob, Brian J. Bartholmai, Srinivasan Rajagopalan, Coline H.M. van Moorsel, Hendrik W. van Es, Frouke T. van Beek, Marjolijn H.L. Struik, Maria Kokosi, Ryoko Egashira, Anne Laure Brun, Arjun Nair, Simon L.F. Walsh, Gary Cross, Joseph Barnett, Angelo de Lauretis, Eoin P. Judge, Sujal, Desai, Ronald Karwoski, Sebastien Ourselin, Elisabetta Renzoni, Toby M. Maher, Andre Altmann, Athol U. Wells


 Posted by at 22:30

Marzia receives Merit Abstract Award for the 2018 OHBM Annual Meeting in Singapore!

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Mar 142018

Our abstract “Rare genetic events in sporadic Alzheimer’s disease: a network propagation approach” was selected for an oral presentation at OHBM 2018, Singapore!

On top of that lead author Marzia Scelsi received (again!) a Merit Abstract Award for the 2018 OHBM Annual Meeting. Congrats Marzia!

M. A. Scelsi, J. E. Iglesias, J M Schott, S Ourselin, A Altmann, “Rare genetic events in sporadic Alzheimer’s disease: a network propagation approach


The discovery of rare genetic mutations in the APP, PSEN1, and PSEN2 that cause familial Alzheimer’s disease (AD) has had profound implications for our understanding of deisease pathognesis. There is much interest in investigating rare genetic variants that might increase risk for, or influence the phenotype of, sporadic AD. This however remains challenging due to the very large sample sizes required and the costs of performing whole-genome sequencing (WGS) in these cohorts. Early successes have included the discovery that TREM2 influences risk (Guerreiro et al. 2013), a discovery that has intensified interest in inflammation in AD. Studies such as the Alzheimer’s Disease Sequencing Project (Bis et al. 2017) continue to address this challenge. Here, we present a method to investigate the effects of rare variant in moderately sized sporadic AD cohorts, such as ADNI Our approach is based on signal diffusion on a gene-interaction network, inspired by its successful application to cancer subtyping (Hofree et al. 2013). We sought to develop an integrative approach to guide gene-based association testing with the knowledge of tissue-specific interaction networks.

 Posted by at 01:23

Imaging genetics paper now online at PNAS!

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Mar 062018

Our paper with the title “Susceptibility of brain atrophy to TRIB3 in Alzheimer’s disease, evidence from functional prioritization in imaging genetics” is now available online at PNAS!

Read the TIG news story here!

In this study, we use an experimental imaging–genetics approach for investigating the genetic underpinnings of brain atrophy in Alzheimer’s disease. We successfully combined state-of-the-art imaging–genetics methods and experimental gene expression data to uncover biology in brain atrophy. The experimental paradigm highlighted a significant role of tribbles pseudokinase 3 (TRIB3) in modulating the typical pattern of Alzheimer’s brain pathology. This result corroborates through rigorous data-driven statistical methods evidence emerging from previous studies about the role of TRIB3 in modulating known mechanisms of neurodegeneration, such as neuronal death, cellular homeostasis, and interaction with established genes causing autosomal dominant Alzheimer’s disease: APP and PSEN1. The developed integrated statistical–experimental methodology could serve as a roadmap for investigations in other disorders.



 Posted by at 20:12