Dear supporters,
First and foremost, we’d like to wish you a merry Christmas and a wonderful 2023.
Looking back to 2022
Next, we’d like to share with you some of the major milestones achieved by the 101 Genomes Foundation in 2022.
This year, we obtained approval from the Erasme ethics committee and the FAMHP to open our “BioB”, our own biobank for the long-term conservation of biological DNA, which is now operational.
We finalized our “Genomic Cloud”, i.e. our biobank-bioinformatics 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 now enables all Marfan syndrome sufferers to join the GEMS study and take part in the search for protective genes (if you are concerned, don’t hesitate to 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 currently hosts 60 complete genomes (WGS), 111 exomes (WES) and 300 panels, making it one of the largest investigative cohorts of Marfan patients in the world !
This resource enables researchers to add to the traditional dimensions of laboratory research (animal models and reprogrammed human cells (IPSCs)) a third in silico pathway, enabling them to explore computationally how genes interact with each other. This approach, based on real world evidence, helps to validate (or invalidate) observations made in the laboratory.

The cycle we have implemented is now operational. It already enables teams from UZA, UZ Gent, ERASME, the ULB Machine Learning Group and theInstitut Interuniversitaire de Bioinformatique à Bruxelles (ib)² to work together.
Our project is now ready to grow into the largest possible Marfan cohort, and to extend to other rare diseases that will benefit from the experience and data already gathered.
On the road to tomorrow
To get us “on the road to tomorrow”, we need your support today.
By supporting our project, you are not supporting a single child, a single research project or 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 the 101 Genomes Foundation, you’re putting genomics to work for rare diseases.
As our fund is hosted by the King Baudouin Foundation, your donations are tax-deductible almost anywhere in the world, depending on the tax system in force in your country of residence. And once again this year, a generous donor is doubling donations to the 101 Genomes Foundation up to a total of 35,000 euros.
So don’t wait any longer, give now by making a donation or setting up a standing order for the benefit of the 101 Genomes Fund hosted by the King Baudouin Foundation on account BE10 0000 0000 0404 (BIC: BPOTBEB1) with structured communication : ***017/1730/00036*** (don’t forget to indicate this structured communication to ensure that your donation reaches the 101 Genomes Fund).
Or donate via
the online donation interface provided by the King Baudouin Foundation
.
Thanks again for your support.
Michel, Ludivine and Romain

To find out more…
If you’d like to know more, we’d like to take this opportunity to share a few links with you:
- Podcast in which Ludivine and Romain explain the work of the 101 Genomes Foundation (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 features of the Genomic Cloud from the 101 Genomes Foundation (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 GEMS research : https://biovox.eu/marfan-patients-team-up-with-researchers-to-catch-their-silent-killer/
- Presentation of the GEMS App at the Marfan Europe Network meeting (FR/EN/NL) : https://f101g.org/marfan-europe-network-whats-new-since-drammen/
- Youtube recording of part of Romain’s speech at the ” Marfan & Innovation ” day organized by ABSM on November 26 at the Musée Belvue (FR): https://youtu.be/H99AZ-U92b8
- Publication of the European reference network VASCERN which mentions, in particular, the presentation of the GEMS App during the VASCERN Days 2022 (EN) : https://vascern.eu/everything-you-wanted-to-know-about-vascern-days-2022/
- Publication by Sofia Papadimitriou, Bioinformatician, F.R.S.-FNRS Postdoctoral Researcher at Université libre de Bruxelles, whose work was carried out in the context of F101G (EN) : https://www.sciencedirect.com/science/article/pii/S2666247722000823
- Website of the Belgian mirror group of the European 1 million + genomes project, which the 101 Genomes Foundation has been invited to join in order to share the experience acquired in the field of genomics since 2016 (EN): http: //www.1mgbelgium.be/workings-groups