Dr Aurora Pujol

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

[Dr Aurora Pujol @PujolLab]

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 @GreenJournal]

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

[The Nobel Prize @NobelPrize]

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

[CNAG @cnag_eu]

🧬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

[Fernando de Castro S @FdeCastroS]

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

[Rahema @Rahema_UCL]

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

[CNAG @cnag_eu]

🗓️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

[Dr Aurora Pujol @PujolLab]

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

[Dr Aurora Pujol @PujolLab]

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

[Dr Aurora Pujol @PujolLab]

@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 🙌

[CaixaResearch @CaixaResearch]

@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

[Dr Aurora Pujol @PujolLab]

@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!❤️

[Trends Cell Biology @TrendsCellBio]

Role of lipids in interorganelle communication https://t.co/YFREwXAXaP

[Dr Aurora Pujol @PujolLab]

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]

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!

[Isabel Fabregat @IsabelFabregat]

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

[IDIBELL @idibell_cat]

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!

[Kivanc Birsoy @KivancBirsoy]

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 https://t.co/6JxemVxbbS

[Martin Picard @MitoPsychoBio]

Energy flow in the mouse brain

[Qian Yuan @qianyuan_geo]

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

[Nature Reviews Genetics @NatureRevGenet]

The epigenetic basis of cellular heterogeneity https://t.co/biIedlVicc #Review by Benjamin Carter & Keji Zhao

[Dr Aurora Pujol @PujolLab]

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

[Dr Aurora Pujol @PujolLab]

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