On February 22, 2019, the third meeting of the scientific committee of the 101 Genomes Project dedicated to Marfan syndrome was held at Banque Delen in Brussels. During the meeting, the scientists decided on the phenotypic criteria to be collected, and examined a proposal for algorithmic assistance in collecting aortic measurements presented by Grégoire Vincke. Progress on 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 F101G Scientific Committee met for the third time in Brussels. Professors Catherine Boileau and Guillaume Jondeau from Hôpital Bichat in Paris, Julie De Backer, Anne de Paepe and Paul Coucke from UZ Ghent, Bart Loeys from UZ Antwerp and Guillaume Smits from Hôpital Erasme have made good progress on questions relating to : (i) the collection of phenotypic data in a manner consistent 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) homogenization and objectification of aorta measurements (AORAM – AORta Automatic Measurement tool) (v) to the composition of the first research cohort(GEMS – Genome-wide Epistasis for cardiovascular severity in Marfan Study) ; and (iv) to the algorithmic assistance solutions under development(GEMVAP – GEne specific Missense VAriant Predictor).
Thanks to VASCERN , the 101 Genomes Core Project dedicated to Marfan syndrome, along with its GEMS and GEMVAP dimensions, has obtained Genomic England’s (GEL) affiliation to the UK’s 100,000 Genomes[3]. These affiliations open up fantastic prospects for further work.
The three Presidents of the Belgian Marfan Syndrome Association, Mrs Douchka Peyra, the French Marfan Syndrome Association, Mrs Stéphanie Delaunay, and the 101 Genomes Foundation, Mr Michel Verboogen, were present and participated with interest in the work of the Scientific Committee.
[1] http://www.montalcinoaorticconsortium.org/
[3] https://www.genomicsengland.co.uk/about-genomics-england/the-100000-genomes-project/
