Third meeting of the Scientific Committee of F101G


Scientific Committee, 2019 / Friday, February 22nd, 2019

On 22 February 2019, the third meeting of the Scientific Committee of the 101 Genome Project on Marfan Syndrome took place at the premises of Bank Delen in Brussels. During this meeting, the scientists agreed on the phenotypic criteria to be collected and discussed a proposal for algorithmic assistance in the collection of aortic measurements presented by Grégoire Vincke. Progress in advancing the composition of the first research cohort was presented. Finally, the progress of the algorithmic solution to assist in confirming the classification of FBN1 variants was presented.

At the end of February, the Scientific Committee of F101G met for the third time in Brussels. Professors Catherine Boileau and Guillaume Jondeau from the Bichat hospital in Paris, Julie De Backer, Anne de Paepe and Paul Coucke of UZ Ghent, Bart Loeys of UZ Antwerp and Guillaume Smits of the Erasmus Hospital have made good progress on the issues related to : (i) the collection of phenotypic data in a consistent way with a partner project (MAC - Montalcino Aortic Consortium[1]); (ii) the involvement of biobanks in the collection of blood samples; (iii) the involvement of bioinformatics partners; (iv) the homogenization and objectification of aortic measurements (AORAM - AORta Automatic Measurement tool); (v) the composition of the first research cohort (GEMS - Genome-wide Epistasis for cardiovascular severity in Marfan Study); and (iv) algorithmic support solutions under development (GEMVAP - GEne specific Missense VAriant Predictor).

Thanks to VASCERN the Main Project 101 Genomes dedicated to Marfan Syndrome and its dimensions GEMS and GEMVAP have obtained the affiliation of Genomic England (GEL) to the 100,000 British genomes.[3]. These affiliations open up fantastic prospects for further work.

The three Presidents of the Belgian Association of Marfan Syndrome, Mrs Douchka Peyra, the French Association of Marfan Syndrome, Mrs Stéphanie Delaunay and Fondation 101 Génomes, Mr Michel Verboogen, were present and participated with interest in the work of the Scientific Committee.

[1] http://www.montalcinoaorticconsortium.org/

[2] https://vascern.eu/

[3] https://www.genomicsengland.co.uk/about-genomics-england/the-100000-genomes-project/

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