
Dr Aurora Pujol
@PujolLab
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Genomic Medicine to decipher Brain Metabolic Disorders, from diagnosis to therapies #RareDiseases @CIBERER @IDIBELL @Icreacommunity. One Planet. Views my own.
Barcelona
Joined April 2021
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 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! https://t.co/Rdro8doAwp
#NeuroTwitter
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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
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🧬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: https://t.co/KajgKYgI4Y
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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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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,
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🗓️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: https://t.co/UEemUTpLwJ
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@PujolLab @FundlaCaixa @idibell_cat @ManelEsteller @CIBERER @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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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!
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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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!
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. 👉 https://t.co/wcylw8Ko3n
#FundaciólaCaixa #Beques #becàriesFundlaCaixa
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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
Blockage of an inner mitochondrial membrane protease stabilizes a glutathione transporter, enabling autoregulatory homeostasis.
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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: https://t.co/ILvMStRA4V
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The epigenetic basis of cellular heterogeneity https://t.co/biIedlVicc
#Review by Benjamin Carter & Keji Zhao
nature.com
Nature Reviews Genetics - In this Review, Carter and Zhao discuss how single-cell sequencing technologies are being applied to investigate epigenetic heterogeneity among seemingly homogeneous...
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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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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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The MX Biobank paper is out today in @Nature! This is the first national-scale genomic database in Mexico and the largest independent project led by my lab @cinvestav since I returned to my home country to help building local capacity. https://t.co/uXt4xhYkhT
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Very well deserved ! 👏👏👏
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