Dear supporters,

First of all, we would like to wish you a happy holiday season and a wonderful year 2023.

Looking back to 2022

Next, we would like to share with you some of the major milestones that were achieved in 2022 by Fondation 101 Génomes.

This year we obtained the approval of the Erasme ethics committee and the FAMHP to open our "BioB", i.e. our own biobank for long-term storage of biological DNA, which is now operational.

We have finalized our "Genomic Cloud", i.e. our bioinformatic-biobank for the conservation and exploration of digitized DNA (=sequenced in WGS, Illumina, 30x), which is now secure and operational.

We have developed our "GEMS App", i.e. our consent management interface, which allows now all people with Marfan syndrome to join the GEMS study to participate in the quest for protective genes (if you are concerned, please join GEMS today: https://www.101gems.be/).

The largest WGS Marfan cohort

At the time of writing, 60 Marfan patients across Europe have already joined the GEMS study. Our Genomic Cloud now hosts 60 whole genomes (WGS), 111 exomes (WES) and 300 panels, making it one of the largest investigative cohorts of Marfan patients in the world!

This resource allows researchers to add to the traditional dimensions of laboratory research (animal models and reprogrammed human cells (IPSCs)) a third way in silico which allows for the computational exploration of how genes interact with each other. This approach is based on real-world data, real world evidence, helps to validate (or invalidate) the observations made in the laboratory.

The cycle that we have implemented is now operational. It already allows teams from UZA, UZ Gent, ERASME, the Machine Learning Group of the ULB and theInteruniversity Institute of Bioinformatics in Brussels (ib)² to work.

Our project is now ready to grow to gather the largest possible Marfan cohort and to extend to other rare diseases that will benefit from the experience and data already gathered.

Heading for tomorrow

To allow us to "head for tomorrow", we need your support today.

By supporting our project, you are not supporting a single child, a single research, a single rare disease, but you are supporting a project that potentially benefits many rare diseases, many research teams and many patients and their families.

By supporting Fondation 101 Génomes, you are truly putting genomics at the service of rare diseases.

As our fund is hosted by the King Baudouin Foundation, your donations are tax-deductible almost everywhere in the world, depending on the regime in force in your country of tax residence. And this year again, a generous donor has doubled the amount of donations made to Fondation 101 Génomes up to 35,000 euros.

So don't wait any longer, give now either by making a donation or by setting up a standing order to benefit the Fonds 101 Génomes hosted by the King Baudouin Foundation on account BE10 0000 0000 0404 (BIC: BPOTBEB1) with the structured communication: ***017/1730/00036 *** (don't forget to indicate this structured communication to be sure that your donation will reach the Fonds 101 Génomes).

Or donate via the online donation interface provided by the King Baudouin Foundation.

Thank you again for your support.

Michel, Ludivine and Romain

For more information...

If you are interested in learning more, we would like to share some links with you:

• Podcast in which Ludivine and Romain explain the action of the Fondation 101 Génomes (FR): https://www.podcastics.com/podcast/episode/lesprit-contre-la-maladie-a3p-human-207676/?s=1777
• Publication by Colby Ford, Cloud Architect Azure, describing the implementation and functionality of the Genomic Cloud of the Fondation 101 Génomes (EN): https://tuplexyz.medium.com/case-study-scaling-rare-disease-research-in-the-azure-cloud-3232e9d6074f
• Publication by Lotte Van Den Heuvel, PhD student bij Centre of Medical Genetics Antwerp, describing the GEMS research: https://biovox.eu/marfan-patients-team-up-with-researchers-to-catch-their-silent-killer/
• Presentation of the GEMS App during the Marfan Europe Network meeting (FR/EN/NL): https://www.f101g.org/marfan-europe-network-whats-new-since-drammen/
• Youtube capture of a part of Romain's intervention during the "Marfan & Innovation" day organized by the ABSM on November 26 at the Belvue Museum (FR): https://youtu.be/H99AZ-U92b8
• Publication of the European reference network VASCERN which mentions, among others, the presentation of the GEMS App during the VASCERN Days 2022: https://vascern.eu/everything-you-wanted-to-know-about-vascern-days-2022/
• Publication of Sofia Papadimitriou, Bioinformatician, F.R.S.-FNRS Postdoctoral Researcher at Université libre de Bruxelles, whose work was carried out in the context of the F101G action: https://www.sciencedirect.com/science/article/pii/S2666247722000823
• Website of the Belgian mirror group of the European 1 million + genomes project that Fondation 101 Génomes has been invited to join to share the experience gained in the field of genomics since 2016: http://www.1mgbelgium.be/workings-groups