We are pleased to share with you the email Alisa sent to the " impatient! "in December 2020. For the record, « impatient! » is the platform for crowdfunding developed to support the activities of Fondation 101 Génomes.

In her letter, Alisa takes stock of the progress that has been made thanks to the fantastic campaign " impatient! "2020, which brought in over 50,000 euros:

"Dearly impatient,

The Fondation 101 Génomes wants to advance ten years of research to help medical teams improve the quality of life of rare disease patients and to save lives.

It's already been a year since you supported our eagerly awaited campaign! Thanks to our 677 donors we have raised just over 50,000 euros!

We wanted to share with you the progress made this year, thanks to your support and that of our partners.

- June 1, 2020: creation of Data Lake

Fondation 101 Génomes has created the bioinformatics tool at the heart of our mission. The Data Lake hosts the phenotypic and genomic data of people with rare (and less rare) diseases as well as healthy people.

With the help of theartificial intelligenceThe data can be studied in depth by the researchers. In particular, they hope to discover the genes that protect some people from severe forms of the disease, as well as the groups of genes that determine the course of the disease. This knowledge will make it possible to develop more personalized and effective treatments.

The Data Lake is intended to be accessible to the entire international scientific community. We are working with the King Baudouin Foundation, and our other partners, to make access to private data as ethical and secure as possible.

- Marfan Syndrome Research Gets a Boost

The pilot project of Fondation 101 Génomes is dedicated to the Marfan syndromeThe disease is genetic in origin and affects the connective tissue, manifesting itself in cardiovascular, orthopaedic and ophthalmologic conditions, among others. This disease is rare and occurs in 1 in every 2000 to 5000 people in the general population. Life expectancy is almost normal, provided there is early diagnosis and adequate management. Fondation 101 Génomes is at the heart of several research projects carried out by the members of its scientific committee.

The quest for protective genes: Professor Bart Loeys, from the University of Antwerp, is conducting research specifically on the protective genes in Marfan syndrome. This study will provide a better understanding of why some people with Marfan syndrome develop a more severe form of the disease, while other people with the same mutation have few or no symptoms. A cohort of more than 300 people has been assembled, the research has been accepted by the ethics committee of the University of Antwerp and is now being submitted to the ethics committees of the different partner universities.

Towards more accurate diagnostic tools : The bioinformatics teams of Professors Guillaume Smits and Tom Lenaerts at the Université Libre de Bruxelles, with the support of Professor Catherine Boileau and her Parisian team, are continuing to develop algorithms to facilitate the diagnosis of Marfan syndrome and to identify possible networks of genes involved in the development and evolution of the disease.

Better patient follow-up: Professors Guillaume Jondeau (Assistance Publique - Hôpitaux de Paris) and Philippe Lambin (University of Maastricht) are perfecting blood vessel measurements; their work will make it possible, in particular, to make a more precise and rapid diagnosis and improve the follow-up of a very large number of patients with cardiovascular diseases.

- Fondation 101 Génomes supports European researchers

The Fondation 101 Génomes has implemented a new interface that allows European Reference Network on Rare Vascular Diseases with Multisystemic Disorders (VASCERN) to more easily exchange knowledge, find synergies and make significant progress in the quest for protective genes.

We wanted to share this hopeful news with you, and thank you again for supporting Fondation 101 Génomes.

With my warmest greetings,

Alisa Herrero, Impatient in Chief

PS: Many of you are asking us if you can make a new donation. Of course it's possible! Donations made before December 25th are 60% deductible. And icing on the cake: one of our partners has pledged to double all the donations we receive over three years (up to an annual ceiling of 25,000 EUR). A donation of 100 EUR will cost you only 40 EUR, and will raise a total of 200 EUR for rare disease research! »