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bertaestevez.bsky.social
Berta Estévez-Arias
@bertaestevez.bsky.social
22 followers 45 following 2 posts
Human Biologist, PhD 🧬 Researcher at the Neuromuscular Disorders Unit (Sant Joan de Déu Research Institute) | Understanding the genetics of #neuromusculardisorders | Genes, books and music
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bertaestevez.bsky.social
Berta Estévez-Arias @bertaestevez.bsky.social · 4d
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! ✈️
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Reposted by Berta Estévez-Arias
erdera.bsky.social
ERDERA @erdera.bsky.social · 29d
🔔 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
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
erdera.org
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bertaestevez.bsky.social
Berta Estévez-Arias @bertaestevez.bsky.social · Aug 19
🚀 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....
Reposted by Berta Estévez-Arias
erdera.bsky.social
ERDERA @erdera.bsky.social · Jun 4
🎯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
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 ...
loom.ly
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