Wrapping up an enlightening Rare Disease Caucus briefing on "Novel Approaches to Drug Development for Small Rare Disease Populations—and the Policies that Can Drive Them." A huge thank you to our insightful speakers (Adora Ndu, @eperlste , Dominique Pichard, Christine Waggoner, Annie Kennedy) Let's keep the momentum going and register for our #ScientificWorkshop2024 https://t.co/OsDyftl9BS
A collaboration between @PerlaraPBC, Maggie’s Cure, and @MayoClinic has announced significant progress in their Phase III trial of epalrestat, an experimental drug meant to combat a rare genetic disease. Read more here:
https://t.co/a3bpw1uRZa
#MayoClinic#Innovation#Genetics
🎉 That‘s a wrap! Thank you everyone!
🤝 Together, we‘ve expanded our knowledge, challenged preconceptions, and strengthened the bonds within our community.
Let‘s keep pushing the boundaries and advocating for the CDG community.
#6thWorldConferenceonCDG
Check out the tweetorial of our #FCDGC investigators at @rarediseasesnet for insights into new potential treatment for #PMM2-#CDG, now a phase III clinical trial.
After 4 years our article is finally out! Many thanks to supervisors @EvaMorava and @VIBMetaboCoreLV ! We investigate the link between abnormal glycosylation and polyol metabolism, and show targeting polyol metbolism results in improved glycosylation in PMM2-CDG! Check it out👇🏻
From made-to-order genetic therapies to model organisms engineered to be ‘patient avatars’, the technology exists right now to save patients with rare diseases https://t.co/2ZTKacIdvg
Personalized medicine is having its day
From made-to-order genetic therapies to model organisms engineered to be ‘patient avatars’, the technology exists right now to save patients with rare diseases https://t.co/2ZTKacIdvg
.@MayoClinic entered into a know-how agreement with @epalrestat in 2021 to develop the first platform therapy for a group of related genetic inborn errors of metabolism called PMM2-CDG. Today that therapy is having real impact! Read more: https://t.co/pzvlo2QJL7 #RareDiseaseDay
Months after Maggie started taking an experimental drug for her ultra-rare genetic disease, she traded in her wheelchair for a walker. The 9-year-old also became better at feeding herself, her speech improved and she started coloring in the lines. https://t.co/9gzDqvc9uQ
A Mayo Clinic discovery has led to a life-changing treatment for young girl with an ultra-rare disease. Read more: https://t.co/VU8ciwYKJQ #RareDiseaseDay