Nelson Martins
@nelsonm1224.bsky.social
MSCA Doctoral Candidate | @progret2024.bsky.social | debaerelab.com | UGent | CMGG 🇧🇪
Studying Retinal Dystrophies and 3D Genome 👁️🌀
@eshgyoung.bsky.social
Alumni from Carla Oliveira Lab (i3S,🇵🇹), Caldas Lab (CRUK CI, 🇬🇧) & Ana-Teresa Maia Lab (UAlg, 🇵🇹)
Studying Retinal Dystrophies and 3D Genome 👁️🌀
@eshgyoung.bsky.social
Alumni from Carla Oliveira Lab (i3S,🇵🇹), Caldas Lab (CRUK CI, 🇬🇧) & Ana-Teresa Maia Lab (UAlg, 🇵🇹)
This afternoon, don’t miss sessions S10 and S11!
👁️ In S10, @elfridedebaere.bsky.social will present our lab’s work! 👀
📉In S11, penetrance will be the main theme, and my friend @ritabmatos.bsky.social will present her research on CDH1 lifetime risk!
👁️ In S10, @elfridedebaere.bsky.social will present our lab’s work! 👀
📉In S11, penetrance will be the main theme, and my friend @ritabmatos.bsky.social will present her research on CDH1 lifetime risk!
May 25, 2025 at 1:30 PM
This afternoon, don’t miss sessions S10 and S11!
👁️ In S10, @elfridedebaere.bsky.social will present our lab’s work! 👀
📉In S11, penetrance will be the main theme, and my friend @ritabmatos.bsky.social will present her research on CDH1 lifetime risk!
👁️ In S10, @elfridedebaere.bsky.social will present our lab’s work! 👀
📉In S11, penetrance will be the main theme, and my friend @ritabmatos.bsky.social will present her research on CDH1 lifetime risk!
🧪 C16 – U R New: RNU-related disease discoveries
A fascinating session on the newly discovered syndrome ✨. I have to highlight the first talk on U4 and U6 in Retinitis Pigmentosa — a project we had the chance to collaborate on! 🙌
A fascinating session on the newly discovered syndrome ✨. I have to highlight the first talk on U4 and U6 in Retinitis Pigmentosa — a project we had the chance to collaborate on! 🙌
May 25, 2025 at 1:27 PM
🧪 C16 – U R New: RNU-related disease discoveries
A fascinating session on the newly discovered syndrome ✨. I have to highlight the first talk on U4 and U6 in Retinitis Pigmentosa — a project we had the chance to collaborate on! 🙌
A fascinating session on the newly discovered syndrome ✨. I have to highlight the first talk on U4 and U6 in Retinitis Pigmentosa — a project we had the chance to collaborate on! 🙌
G01 - Clearly I could not move without mentioning the @eshgyoung.bsky.social Get2Gether. We heard multiple perspectives on trainee training within the different countries and I was officially shared as one of the new members. Glad to be part of this! ☺️
May 25, 2025 at 7:21 AM
G01 - Clearly I could not move without mentioning the @eshgyoung.bsky.social Get2Gether. We heard multiple perspectives on trainee training within the different countries and I was officially shared as one of the new members. Glad to be part of this! ☺️
C13.05– Mariona Terradas from IDIBELL,Barcelona, presented our work at #SolveRD and ERN GENTURIS!We focused on srWGS in patients with ultra-rare clinical criteria.I’m incredibly proud to see our research shared on this stage and deeply grateful to everyone who contributed to the project.🙌🏻Thank you!
May 25, 2025 at 7:21 AM
C13.05– Mariona Terradas from IDIBELL,Barcelona, presented our work at #SolveRD and ERN GENTURIS!We focused on srWGS in patients with ultra-rare clinical criteria.I’m incredibly proud to see our research shared on this stage and deeply grateful to everyone who contributed to the project.🙌🏻Thank you!
See you next year at the joint NVHG/BeSHG meeting in Rotterdam! 🇳🇱✨
March 14, 2025 at 6:27 PM
See you next year at the joint NVHG/BeSHG meeting in Rotterdam! 🇳🇱✨
For the first time, I experienced a meeting that included a dedicated retreat for early-career scientists (PhD students and postdocs)👨🔬. What a cozy environment for insightful talks, engaging discussions, and good questions! 🔥
March 14, 2025 at 6:27 PM
For the first time, I experienced a meeting that included a dedicated retreat for early-career scientists (PhD students and postdocs)👨🔬. What a cozy environment for insightful talks, engaging discussions, and good questions! 🔥
And what a way to begin 2025! 🚀✨ Novel RNU genes are also linked with Retinitis Pigmentosa 🧬👁️ Grateful to contribute to this incredible finding. Check out the paper!! 📄⬇️
www.medrxiv.org/content/10.1...
www.medrxiv.org/content/10.1...
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa
The U4 small nuclear RNA (snRNA) forms a duplex with the U6 snRNA and, together with U5 and ∼30 proteins, is part of the U4/U6.U5 tri-snRNP complex, located at the core of the major spliceosome. Recen...
www.medrxiv.org
January 30, 2025 at 4:27 PM
And what a way to begin 2025! 🚀✨ Novel RNU genes are also linked with Retinitis Pigmentosa 🧬👁️ Grateful to contribute to this incredible finding. Check out the paper!! 📄⬇️
www.medrxiv.org/content/10.1...
www.medrxiv.org/content/10.1...
The true game-changer of 2024? In September, I embarked on my biggest adventure yet: moving to Ghent,Belgium🇧🇪to start my PhD in @elfridedebaere.bsky.social’s lab under the @progret2024.bsky.social fellowship.Big thanks to the lab for a warm welcome.I’m already building some unforgettable memories.👨🔬✨
January 30, 2025 at 4:27 PM
The true game-changer of 2024? In September, I embarked on my biggest adventure yet: moving to Ghent,Belgium🇧🇪to start my PhD in @elfridedebaere.bsky.social’s lab under the @progret2024.bsky.social fellowship.Big thanks to the lab for a warm welcome.I’m already building some unforgettable memories.👨🔬✨
In 2024, I crossed Portugal to join Ana Teresa Maia & Joana Xavier's team in Faro, diving deep into allelic imbalances & cis-regulatory SNPs. Lived 6 amazing months in Faro—unreal sunsets included! 🌅 Grateful for this opportunity!
January 30, 2025 at 4:27 PM
In 2024, I crossed Portugal to join Ana Teresa Maia & Joana Xavier's team in Faro, diving deep into allelic imbalances & cis-regulatory SNPs. Lived 6 amazing months in Faro—unreal sunsets included! 🌅 Grateful for this opportunity!