Nelson Martins

Want to rewatch sessions from #ESHG2025 Milan?
You can access all conference content until Nov 30, 23:59 CET from any device.
👉 cattendee.abstractsonline.com/meeting/21105

📹 After Nov 30, plenary & educational sessions will be on the ESHG YouTube channel

@eshg.bsky.social

Don’t miss this opportunity!! ⬇️

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!

🧪 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! 🙌

📍Second day of #ESHG2025 and here’s a quick recap of this morning’s sessions:
🧬 W04 – Long-read sequencing for beginners
A great workshop where I tried to dive deeper into long-read analysis 🔍. Also got to learn about de novo assemblies using long-read data!

Welcome our new @eshgyoung.bsky.social Committee Members! 🧬
4 new members will be joining the ESHG-Young Committee this year!
Maria Francesca di Feo (Italy/Finland)
Nelson Martins @nelsonm1224.bsky.social (Belgium)
Mathys Weber (France)
Ewelina Bukowska-Olech (Poland)
#ESHG2025 @eshg.bsky.social

It's time!!!

An entire session of #eshg2025 on snRNA genes ❤️🤓

On my way to #eshg25!
If you are interested in the work we do at the FunGen lab, check out the flash talk on Sunday and poster on Monday by @lisahamerlinck.bsky.social or come and have a coffee with team members @michael-b-vaughan.bsky.social, @eedhaene.bsky.social or me. Hope to see you there!

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!

The second #ESHG2025 day has started, but I truly do not want to leave without yesterday's highlights.

PL2.2 - An interesting story about Huntington disease, the adult age-of-onset and a possibly window to treatment/prevention phenotype. Amazing news for families with this disease. ✨

Super happy to see this paper out 📰. An amazing work I had the pleasure of learning about in 2022 during my short stay in Cambridge 🇬🇧. Congratulations to all individuals and teams involved 👏🎉.
@nguyenlab.bsky.social @carloscaldas1960.bsky.social @ruedalab.bsky.social
Check it out ⬇️

Blue light… ON! 🔵
Yesterday, our @pacbio.bsky.social Revio at CMGG started a new run 🚀 — one that might just be the start of a great chapter in my PhD journey 🎓. Fingers crossed for exciting results! 🤞🏻✨

@progret2024.bsky.social

Super happy to have had the opportunity to be in Montpellier 🇫🇷 with all my fellow DCs for this @progret2024.bsky.social training! 😊✨
A big thanks to all the organizing and hosting teams! 🙌💙

Bonjour, Montpellier ! 🇫🇷✨ For the first time in this city with @progret2024.bsky.social at CS3: Excellence in Science Communication Training 🎤💡 with this fantastic group! 🫂✨ Excited to be part of this! 😃🚀 #SciComm

Hello, @eshgyoung community! 👋 We're excited to be here and continue connecting with you all! Let’s grow, learn, and share together! @eshg.bsky.social

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! 🔥

I attended the 25th #BeSHG Annual Meeting on “Under Pressure: the shaping of our genomes”, where we explored evolution and its role in human genetic diseases 🧬. It was an impressive event!
@lisahamerlinck.bsky.social

As 'DC5' of @progret2024.bsky.social you leverage long-read sequencing approaches to gain more insight into 3D genomes of human retina, RPE, iPSC-ROs and iPSC-RPE. This will advance our understanding of difficult-to-interpret non-coding variants and SVs in retinal diseases.
#LRS #3Dgenome ##SV #IRD

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...

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...

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!

Hi Bluesky!! Take here a little of my 2024 Wrapped!! 🧵🥳