Defining the causes of sporadic Parkinson's disease in the global Parkinson's genetics program (GP2)

The Global Parkinson's Genetics Program (GP2) will genotype over 150,000 participants from around the world, and integrate genetic and clinical data for use in large-scale analyses to dramatically expand our understanding of the genetic architecture of PD. This report details the workflow for cohort integration into the complex arm of GP2, and together with our outline of the monogenic hub in a companion paper, provides a generalizable blueprint for establishing large scale collaborative research consortia

Defining the causes of sporadic Parkinson’s disease in the global Parkinson’s genetics program (GP2)

\ua9 2023, Springer Nature Limited. The Global Parkinson’s Genetics Program (GP2) will genotype over 150,000 participants from around the world, and integrate genetic and clinical data for use in large-scale analyses to dramatically expand our understanding of the genetic architecture of PD. This report details the workflow for cohort integration into the complex arm of GP2, and together with our outline of the monogenic hub in a companion paper, provides a generalizable blueprint for establishing large scale collaborative research consortia

Multi-ancestry genome-wide association meta-analysis of Parkinson’s disease

\ua9 2023, This is a U.S. Government work and not under copyright protection in the US; foreign copyright protection may apply. Although over 90 independent risk variants have been identified for Parkinson’s disease using genome-wide association studies, most studies have been performed in just one population at a time. Here we performed a large-scale multi-ancestry meta-analysis of Parkinson’s disease with 49,049 cases, 18,785 proxy cases and 2,458,063 controls including individuals of European, East Asian, Latin American and African ancestry. In a meta-analysis, we identified 78 independent genome-wide significant loci, including 12 potentially novel loci (MTF2, PIK3CA, ADD1, SYBU, IRS2, USP8, PIGL, FASN, MYLK2, USP25, EP300 and PPP6R2) and fine-mapped 6 putative causal variants at 6 known PD loci. By combining our results with publicly available eQTL data, we identified 25 putative risk genes in these novel loci whose expression is associated with PD risk. This work lays the groundwork for future efforts aimed at identifying PD loci in non-European populations

Defining the causes of sporadic Parkinson’s disease in the global Parkinson’s genetics program (GP2)

The Global Parkinson’s Genetics Program (GP2) will genotype over 150,000 participants from around the world, and integrate genetic and clinical data for use in large-scale analyses to dramatically expand our understanding of the genetic architecture of PD. This report details the workflow for cohort integration into the complex arm of GP2, and together with our outline of the monogenic hub in a companion paper, provides a generalizable blueprint for establishing large scale collaborative research consortia

Defining the causes of sporadic Parkinson's disease in the global Parkinson's genetics program (GP2)

The Global Parkinson’s Genetics Program (GP2) will genotype over 150,000 participants from around the world, and integrate genetic and clinical data for use in large-scale analyses to dramatically expand our understanding of the genetic architecture of PD. This report details the workflow for cohort integration into the complex arm of GP2, and together with our outline of the monogenic hub in a companion paper, provides a generalizable blueprint for establishing large scale collaborative research consortia

Multi-ancestry genome-wide association meta-analysis of Parkinson?s disease

Although over 90 independent risk variants have been identified for Parkinson’s disease using genome-wide association studies, most studies have been performed in just one population at a time. Here we performed a large-scale multi-ancestry meta-analysis of Parkinson’s disease with 49,049 cases, 18,785 proxy cases and 2,458,063 controls including individuals of European, East Asian, Latin American and African ancestry. In a meta-analysis, we identified 78 independent genome-wide significant loci, including 12 potentially novel loci (MTF2, PIK3CA, ADD1, SYBU, IRS2, USP8, PIGL, FASN, MYLK2, USP25, EP300 and PPP6R2) and fine-mapped 6 putative causal variants at 6 known PD loci. By combining our results with publicly available eQTL data, we identified 25 putative risk genes in these novel loci whose expression is associated with PD risk. This work lays the groundwork for future efforts aimed at identifying PD loci in non-European populations

Normal changes of LV contractility with ageing: an echocardiographic study

* Cabinet de Michèle Alliot-Marie, ministre d’Etat, Garde des Sceaux, ministre de la Justice et des Libertés : François Molins, magistrat, directeur du cabinet (jusqu’alors procureur de la République de Bobigny) ; Alexandre Jevakhoff, inspecteur général des finances, directeur adjoint ; Ludivine Olive, chef du cabinet et nièce de la garde des Sceau ; Jean-Louis Daumas, conseiller technique chargé de la Justice des mineurs, de l’accès au droit et de l’aide aux victimes (jusqu’alors directeur ..

Whole myocardium tracking in 2D-echocardiography in multiple orientations using a motion constrained level-set

International audienceThe segmentation and tracking of the myocardium in echocardiographic sequences is an important task for the diagnosis of heart disease. This task is difficult due to the inherent problems of echographic images (i.e. low contrast, speckle noise, signal dropout, presence of shadows). In this article, we extend a level-set method recently proposed in Dietenbeck et al. (2012) in order to track the whole myocardium in echocardiographic sequences. To this end, we enforce temporal coherence by adding a new motion prior energy to the existing framework. This motion prior term is expressed as new constraint that enforces the conservation of the levels of the implicit function along the image sequence. Moreover, the robustness of the proposed method is improved by adjusting the associated hyperparameters in a spatially adaptive way, using the available strong a priori about the echocardiographic regions to be segmented. The accuracy and robustness of the proposed method is evaluated by comparing the obtained segmentation with experts references and to another state-of-the-art method on a dataset of 15 sequences (≃ 900 images) acquired in three echocardiographic views. We show that the algorithm provides results that are consistent with the inter-observer variability and outperforms the state-of-the-art method. We also carry out a complete study on the influence of the parameters settings. The obtained results demonstrate the stability of our method according to those values

Multiview myocardial tracking in echocardiographic 2D sequences using shape and motion constrained level-set

International audienc