We are pleased to share with you the email Alisa sent to the ” impatient! ” in December 2020. impatients! is the crowdfunding platform developed to support the activities of the 101 Genomes Foundation.
In her letter, Alisa takes stock of the progress that has been made thanks to the fantastic ” impatient! ” campaign. 2020 campaign, which raised over 50,000 euros:
“Dear impatient,
The 101 Genomes Foundation aims to advance research by ten years, to help medical teams improve the quality of life of patients suffering from rare diseases, and to save lives.
It’s already been a year since you supported our impatient 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 the Data Lake
The 101 Genomes Foundation has created the bioinformatics tool at the heart of our mission. The Data Lake houses phenotypic and genomic data from people with rare (and less rare) diseases, as well as from healthy individuals.
With the help ofartificial intelligence, researchers will be able to study this data in depth. 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 how the disease progresses. This knowledge will enable us to develop more personalized and effective treatments.
The Data Lake is designed 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.
– Boost for Marfan syndrome research
The 101 Genomes Foundation’s pilot project is dedicated to Marfan syndrome, a genetic disease affecting connective tissue, with cardiovascular, orthopedic and ophthalmological consequences. The disease is rare, occurring in 1 in every 2,000 to 5,000 people in the general population. Life expectancy is almost normal, provided the disease is diagnosed early and treated appropriately. The 101 Genomes Foundation is at the heart of a number of research projects led by the members of its Scientific Committee.
The quest for protective genes: Professor Bart Loeys, from the University of Antwerp, is conducting specific research into protective genes in Marfan syndrome. This study will shed light on why some people with Marfan syndrome develop a more severe form of the disease, while others with the same mutation have few or no symptoms. A cohort of over 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 various partner universities.
Towards more precise diagnostic tools : With the support of Professor Catherine Boileau and her team in Paris, the bioinformatics teams of Professors Guillaume Smits and Tom Lenaerts at the Université Libre de Bruxelles are continuing to develop algorithms to help diagnose Marfan syndrome and identify possible gene networks 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, in particular, enable more accurate and rapid diagnosis and improved monitoring of a large number of patients with cardiovascular disorders.
– 101 Genomes Foundation supports European researchers
The 101 Genomes Foundation has set up a new interface enabling members of the European Reference Network for Rare Vascular Diseases with Multisystemic Damage (VASCERN) to exchange knowledge more easily, find synergies and make significant progress in the search for protective genes.
We wanted to share this hope-filled news with you, and thank you once again for supporting the 101 Genomes Foundation.
With kindest regards,
Alisa Herrero, Impatiente en chef
PS: Many of you ask us if you can make a new donation. Of course you can! Donations made before December 25 are 60% tax-deductible. And the icing on the cake: one of our partners has committed to doubling all the donations we receive for three years (up to an annual ceiling of 25,000 EUR). So a donation of 100 EUR will only cost you 40 EUR, and will raise a total of 200 EUR for research into rare diseases!
