F101G | Genomics for Rare Diseases #genomics4rarediseases #marfan
Bruxelles, Belgique
Joined December 2017
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101 Genomes Foundation retweeted
Our Marfan Foundation family lives in every corner of the globe. That's why we brought our mission to Barcelona, Spain today with our first-ever patient community symposium there--connecting community members with experts and fostering local friendships.
Read more: marfan.org/2026/10/03/keys-t…
#Marfan #LoeysDietz #VEDS #Barcelona #Spain #TheMarfanFoundation
1/10/2026, Professor Tom Lenaerts presented to Her Majesty the Queen of Belgium his work with @F101Genomes on modifier genes 🧬 in #Marfan Syndrome during the Third AI & Medicine Symposium: youtu.be/-W7-JGgUg5Y?si=4_3K… via @YouTube
JCI - Small populations, big impact: leveraging rare disease gene therapies to benefit millions jci.org/articles/view/212036
101 Genomes Foundation retweeted
Some people carry a genetic change that switches off the PCSK9 gene. Their cholesterol is dramatically lower, and they're completely healthy. 23andMe scientist Ruth explains how finding them led to a new class of cholesterol drugs.
#23andMe #Genetics #DNA #Cholesterol #HeartHealth #PCSK9 #ScienceTok #GeneticsResearch #23andMeEducation
101 Genomes Foundation retweeted
Researchers at the Cornell University College of Veterinary Medicine and the Baker Institute of Animal Health have documented the first molecular characterization of Marfan syndrome in domestic cats, documented in a paper in Scientific Reports. bit.ly/4yLqklk
101 Genomes Foundation retweeted
You may have seen two cats, Gary and Shaggy, in the news recently because they have Marfan syndrome. Yes, animals can have Marfan syndrome because they also have connective tissue in their bodies. Cows and dogs have presented with Marfan. And, just like humans, their aortas can be at risk.
Read more: vet.cornell.edu/about-us/new…
When someone asks you about Marfan in pets, it's the perfect moment to say, "Yes, pets can have Marfan syndrome. Here's where you can learn more about Marfan in people: marfan.org."
#Cats #Feline #Marfan #Marfans #MarfanSyndrome
Thank you @cornellvet for spotlighting Marfan syndrome.
101 Genomes Foundation retweeted
Some people inherit two copies of the sickle cell variant but barely get sick.
Turns out a hidden, protective variant works against the disease, and that mechanism is now driving real-world treatments.
The second video in our Genetic Escapers series is live now.
#geneticescapers #sicklecell #23andme #genetics
FNIP1 variants are associated with favourable metabolism in 1 million humans | Nature nature.com/articles/s41586-0…
101 Genomes Foundation retweeted
Inspired by my recent article in @TheAtlantic:
Some people have DNA variants that should basically guarantee they'll have a genetic disease... but they never get sick. These folks are called genetic escapers, and they're incredibly rare. Learn more in our new social video series.
#geneticescapers #DNA #23andme #genetics
101 Genomes Foundation retweeted
The life-saving DNA of genetic outliers - I write all about how the search for these individuals who have variants of modifier genes is influencing medicine. Here's a post about my latest story for The Atlantic:
roxanne.substack.com/p/the-l…
The GEMS-App poster was named the most impactful poster at ECRD2026 in Prague f101g.org/en/the-gems-app-po… @eurordis #ECRD2026
101 Genomes' quest published in the American magazine 'The Atlantic' f101g.org/en/101-genomes-que… @TheAtlantic @rkhamsi
101 Genomes Foundation retweeted
Très vite, les parents d’Aurélien remarquent qu’il y a chez leur fils “quelque chose qui cloche”. S’ensuivra un formidable projet… lalibre.be/planete/sante/202…
101 Meilleurs voeux pour 2026 🎄🧬✨
101 Best wishes for 2026 !
101 Beste wensen voor 2026 !
¡101 Mejores deseos para el 2026!
- mailchi.mp/f101g/voeux2025fr
101 Genomes Foundation retweeted
Colette était le plus doux et rigolo des bébés.
C’était ma fille et sa vie a été une leçon de courage.
Si vous en avez les moyens, vous pouvez donner à la fondation @F101Genomes, qui œuvre pour faire avancer la recherche sur le syndrome de Marfan.
theimpatients.org/fr/page/en…