Berta Estévez-Arias

Another #WMS comes to an end, and it’s always such a special one 🫶 So much to learn, share, and celebrate... including an award from @worldmusclesociety.org 🏆 What an honor to receive it, thank you! It’s always a privilege to be part of this community. Already counting down to the next one! ✈️

12.10.2025 10:05 — 👍 4    🔁 1    💬 1    📌 0

Solvathons: A Pan-European Success Story in Rare Disease Diagnosis - ERDERA Newly accepted Nature Genetics article inspires ERDERA’s plan to scale up cross-border collaborative workshops

🔔 New article | Solvathons are now a key part of ERDERA’s strategy to speed up rare disease diagnosis across Europe. Hear from experts shaping this collaborative model and read more here 🔗 https://loom.ly/UdpIQcU
#RareDiseases #ERDERA #Solvathons

17.09.2025 00:30 — 👍 1    🔁 1    💬 0    📌 0

🚀 Thrilled to share our new paper in Annals of Neurology!

We report a new phenotype linked to DARS2, establishing it as a causal gene for axonal neuropathy, a step forward in neuromuscular genetics 🧬

A long journey, but totally worth it!

🔗 doi.org/10.1002/ana....

19.08.2025 08:11 — 👍 0    🔁 0    💬 0    📌 0

ERDERA diagnostics research task force showcases impact and ambition at ESHG 2025 - ERDERA The European Human Genetics Conference 2025 (ESHG) provided a significant platform for the ERDERA Diagnostics Research task force to share its strategic vision, scientific progress, and commitment to ...

🎯At #ESHG2025, ERDERA showcased its bold vision to transform rare disease diagnostics across Europe—scaling Solve-RD’s success to 100,000+ cases with cutting-edge tech and cross-border collaboration. 🔗 Read more: loom.ly/qv98Csg ‪
#ERDERA

04.06.2025 10:01 — 👍 4    🔁 2    💬 0    📌 0