Berta Estévez-Arias
@bertaestevez.bsky.social
Human Biologist, PhD 🧬 Researcher at the Neuromuscular Disorders Unit (Sant Joan de Déu Research Institute) | Understanding the genetics of #neuromusculardisorders | Genes, books and music
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! ✈️
October 12, 2025 at 10:05 AM
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! ✈️
Reposted by Berta Estévez-Arias
🔔 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
#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
September 17, 2025 at 7:30 AM
🔔 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
#RareDiseases #ERDERA #Solvathons
🚀 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....
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....
August 19, 2025 at 8:11 AM
🚀 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....
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
🎯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
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
June 4, 2025 at 10:01 AM
🎯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