The secret behind a very high #genomic diagnostic yield for the #leukodystrophies: brilliant team of neurologists, computer scientists &geneticists. Very proud! 1M Thanks @GreenJournal @cnag_eu @CIBERER @idibell_cat @agustipalmero @NeurologiaHUB @AsoELA

.@nickywhiffin gets the Leena Peltonen award 👌👏 She gives quite a exciting ride through her genetic rare disease research and her contributions to the field. In the last two years, starting with RNU4-2, twelve new sRNA disease genes have been found. She also states that it’s a great reward to work with the families she helped diagnose. And in addition she calls everyone, especially the young colleagues, to work on science that’s exciting. And also work with people that share your values. That will lead you to a very happy place. 🙂 #eshg2026

Presented at #ESHG2026: In 832 patients with rare genetic disease, a conclusive diagnosis was made for 160 patients (19.2%) with long-read genome sequencing and for 137 patients (16.5%) with standard-of-care testing. Full study results: nej.md/4e03ejh @eshgsociety

Happy International Women’s Day! We’re celebrating women who have changed the world. Here are all of the amazing women who have received the #NobelPrize and their remarkable achievements at the time of the award. Tell us about the women who inspire you the most - and why #InternationalWomensDay

🧬Did you miss the 13th #CNAGSymposium? Don't worry, here are all the details! A unique event that brought together cutting-edge genomics and healthcare, with 15 leading speakers and the participation of over 200 experts 📹Check out the presentations: youtube.com/watch?v=K9Gk34Ud…

Aprendiendo en el I Curso de Formación en #leucodistrofias,ahora,en Madrid, gracias a @AsoELA, @PujolLab (@idibell_cat) y #SergioAguilera (#HUNavarra,@UNavarra,@navarrabiomed). (Re)mielinización ¡YA! @NEC_blog @senep_es @Aecom_EIM @FEDER_ONG @SENC_ @seneurologia @InstitutoCajal

The Oxford Nanopore Seminar at UCL ION was an insightful day showcasing how long-read sequencing is driving breakthroughs in our understanding of Neurological Disorders & Rare Diseases. From resolving cryptic structural variants to tackling unsolved repeat expansion disorders, the talks highlighted the immense potential of this technology. A huge thank you to all the speakers for sharing their work! 🧬 @UCLIoN @nanopore @alistairp2011 @ZhongboC @IonSynapse @LRS_UCL

🗓️1 week left to #CNAGSymposium! 🗣️Get a sneak peek at some of our incredible speakers! @elena_elez, @tmarquesbonet, @PujolLab, @LeslieMatalonga, Ángel Alonso (@navarrabiomed), Elías Campo (@idibaps), Yanis Mimouni (@Inserm_EN)... 🔗Info and programme: cnag.eu/events/13th-cnag-sym…

👉Este proyecto #CaixaResearch, liderado por @PujolLab (@idibell_cat), se realiza en consorcio con: 🔸@ManelEsteller, de @CarrerasIJC 🔸Antonella Consiglio, de @UniBarcelona

Role of lipids in interorganelle communication dlvr.it/T8BD9j

Many years of solving diagnostic and scientific riddles with best genomics expertise of @cnag_eu. Such a blast of a meeting #eshg2024 in wonderful Berlin!

Have a look to the workshop that we organize in June in Barcelona @idibell_cat @UniBarcelona Registration is free!

Felicitats a Ayelen Artuch (@AArtuch98654), qui ha rebut una beca de doctorat #INPhINIT de @FundlaCaixaCAT @BecarisFLC per incorporar-se al @PujolLab i estudiar les malalties neurometabòliques!

How does mitochondria sense and control their glutathione levels? Our new work @ScienceMagazine by a fantastic student @YuyangLiu1996 describing a redox metabolite sensing mechanism for mitochondria. @RockefellerUniv @TheMarkFdn science.org/doi/10.1126/scie…

Energy flow in the mouse brain

First-ever: We've identified a new astronomical object, 'Buried Planet', using SEISMOLOGY, rather than telescopes. It's a survivor of Theia, the planet that collided with Earth 4.5 billion years ago to form our Moon. See our @Nature cover paper: rdcu.be/dp16K

The epigenetic basis of cellular heterogeneity go.nature.com/37g8Hir #Review by Benjamin Carter & Keji Zhao