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, 🇵🇹)

Since 2018, the European Society of Human Genetics has been presenting the ELPAG Award. It is presented to honour a scientist having made an important mark in the field of Ethical, Legal and Psychosocial Aspects of Genetics. #eshg2026 ELPAG Award laureate: Anne Cambon-Thomsen (Toulouse, France)

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On Rare Disease Day, we highlight the global impact of rare conditions. More than 6,000 rare diseases have been identified, together affecting 300 million people worldwide. Among them are inherited retinal diseases (IRDs), which affect about 1 in 3,000 people.

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📍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!

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