Dr Aurora Pujol @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

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Konrad Platzer @platzer_k

3 weeks ago

.@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 @NEJM

3 weeks ago

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

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The Nobel Prize @NobelPrize

a year ago

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_eu

2 years ago

🧬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=K9Gk34…

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Fernando de Castro S @FdeCastroS

2 years ago

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_UCL

2 years ago

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_eu

2 years ago

🗓️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-cn…

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Dr Aurora Pujol @PujolLab

2 years ago

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Dr Aurora Pujol @PujolLab

2 years ago

@CapetilloZarate @CaixaResearch @FundlaCaixa @idibell_cat @ManelEsteller @CIBERER @icreacommunity @CarrerasIJC @UniBarcelona @AsoELA @ConsiglioLab Gracias Esti ❤️

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Dr Aurora Pujol @PujolLab

2 years ago

@CaixaResearch @FundlaCaixa @idibell_cat @ManelEsteller @CIBERER @icreacommunity @CarrerasIJC @UniBarcelona @AsoELA @ConsiglioLab

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Dr Aurora Pujol @PujolLab

2 years ago

@CaixaResearch @FundlaCaixa @idibell_cat @ManelEsteller @CIBERER @icreacommunity @CarrerasIJC @UniBarcelona @AsoELA Together with @ConsiglioLab @ManelEsteller @AsoELA , we will solve riddles to help our patients with #adrenoleukodystrophy, from #biomarkers to cures. Very grateful to @CaixaResearch and coll worldwide, united against #raredisease 🙌

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CaixaResearch @CaixaResearch

2 years ago

@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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Dr Aurora Pujol @PujolLab

2 years ago

@CaixaResearch @FundlaCaixa @idibell_cat @ManelEsteller @CIBERER @icreacommunity @CarrerasIJC @UniBarcelona @AsoELA 🙌Thrilled and so grateful to @CaixaResearch for funding our project on #adrenoleukodystrophy. Overjoyed to be working with best collaborators @ConsiglioLab @ManelEsteller @AsoELA @ciberer It’s progress only when we progress together!❤️

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Trends Cell Biology @TrendsCellBio

2 years ago

Role of lipids in interorganelle communication dlvr.it/T8BD9j

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Dr Aurora Pujol @PujolLab

2 years ago

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_eu

2 years ago

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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Isabel Fabregat @IsabelFabregat

2 years ago

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_cat

2 years ago

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” @FundlaCaixaCAT

2 years ago

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 @KivancBirsoy

3 years ago

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/sc…

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Martin Picard @MitoPsychoBio

3 years ago

Energy flow in the mouse brain

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Qian Yuan @qianyuan_geo

3 years ago

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