@PujolLab

Genomic Medicine to decipher Brain Metabolic Disorders, from diagnosis to therapies #RareDiseases @CIBERER @IDIBELL @Icreacommunity. One Planet. Views my own.

 Barcelona
Joined April 2021
  • Tweets429
  • Following2K
  • Followers804
11Media
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
Neurology Journal@GreenJournal7 Apr 2022
Neurology Podcast: In today's episode, Dr. Aurora Pujol (@PujolLab) discusses the diagnosis of #genetic white matter disorders by singleton whole-exome and genome sequencing using interactome-driven prioritization. Listen now! bit.ly/3Kxg8UZ #NeuroTwitter
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Giovanni D'Angelo
@Gio_Dangel0Sep 23
#lipidtime: It's a lipid universe. Today in Nature we publish the Lipid Brain Atlas, the first map of membrane lipid composition across the entire mouse brain, a layer of organisation that cell-type and transcript maps had left out. #lipidomics #neuroscience #BrainAtlas
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Konrad Platzer
@platzer_kJun 13
.@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
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NEJM
@NEJMJun 13
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
This image is a detailed infographic on standard-of-care testing and long-read genome sequencing as first-tier approaches to genetic testing. It includes an assessment of diagnostic samples, diagnostic yield, concordance according to variant type, and diagnostic yield.

ALT This image is a detailed infographic on standard-of-care testing and long-read genome sequencing as first-tier approaches to genetic testing. It includes an assessment of diagnostic samples, diagnostic yield, concordance according to variant type, and diagnostic yield.

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The Nobel Prize
@NobelPrize8 Mar 2025
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
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CNAG@cnag_eu16 Dec 2024
🧬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…
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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
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Rahema
@Rahema_UCL8 Dec 2024
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
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CNAG@cnag_eu2 Dec 2024
🗓️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…
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CaixaResearch
@CaixaResearch13 Nov 2024
Replying to @CaixaResearch @PujolLab @FundlaCaixa @idibell_cat @ManelEsteller @icreacommunity @CarrerasIJC @UniBarcelona @AsoELA
👉Este proyecto #CaixaResearch, liderado por @PujolLab (@idibell_cat), se realiza en consorcio con: 🔸@ManelEsteller, de @CarrerasIJC 🔸Antonella Consiglio, de @UniBarcelona
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Role of lipids in interorganelle communication dlvr.it/T8BD9j
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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!
CNAG@cnag_eu2 Jun 2024
Our first day at #eshg2024 📸 ➡️ Interesting meetings with partners such as @PujolLab from @idibell_cat ➡️ Booth 122 ready to inform you about: 🧬High throughput sequencing 🔬Long read sequencing 🧫Spatial & Single Cell Genomics 💻Platform for #rarediseases See you today!
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Have a look to the workshop that we organize in June in Barcelona @idibell_cat @UniBarcelona Registration is free!
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IDIBELL@idibell_cat13 Mar 2024
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!
Fundació ”la Caixa”@FundlaCaixaCAT12 Mar 2024
Amb les 65 beques de doctorat INPhINIT i les 40 de postdoctorat Junior Leader, 105 investigadors excel·lents podran realitzar els seus projectes a universitats i centres de recerca d'Espanya i Portugal. 👉 bit.ly/48Q0rU3 #FundaciólaCaixa #Beques #becàriesFundlaCaixa
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Kivanc Birsoy@KivancBirsoy2 Nov 2023
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…

Autoregulatory control of mitochondrial glutathione homeostasis

Blockage of an inner mitochondrial membrane protease stabilizes a glutathione transporter, enabling autoregulatory homeostasis.

science.org
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Martin Picard
@MitoPsychoBio3 Nov 2023
Energy flow in the mouse brain
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Qian Yuan@qianyuan_geo1 Nov 2023
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
Cred: Hernán Cañellas

ALT Cred: Hernán Cañellas

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The epigenetic basis of cellular heterogeneity go.nature.com/37g8Hir #Review by Benjamin Carter & Keji Zhao
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Very proud of our PhD Student Laura Planas-Serra award winer at the @FEBS Sphingolipid conference @SL_Biology #SLBiol2023 in #Madeira, Portugal. Terrific science and lots of fun. Very grateful to organizers @Gio_Dangel0 @MolCellBiophys, @FEBSnews @EMBOevents
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Exciting scientific discussions with @Auwerx_Lab, @Prinetti1 @PatriciaMin19 @MelissaPitman17 @gvdgoot, from membrane biology to viral infectivity, to complex metabolic and rare genetic disorders. The dawn of a new era indeed! Awesome location #Madeirabelongstoall
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