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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Dr Aurora Pujol retweeted
#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
Dr Aurora Pujol retweeted
.@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
Dr Aurora Pujol retweeted
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
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.
Dr Aurora Pujol retweeted
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
Dr Aurora Pujol retweeted
🧬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…
Dr Aurora Pujol retweeted
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
Dr Aurora Pujol retweeted
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
Dr Aurora Pujol retweeted
🗓️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…
Dr Aurora Pujol retweeted
👉Este proyecto #CaixaResearch, liderado por @PujolLab (@idibell_cat), se realiza en consorcio con:
🔸@ManelEsteller, de @CarrerasIJC
🔸Antonella Consiglio, de @UniBarcelona
Dr Aurora Pujol retweeted
Have a look to the workshop that we organize in June in Barcelona @idibell_cat @UniBarcelona Registration is free!
Dr Aurora Pujol retweeted
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.
👉 bit.ly/48Q0rU3
#FundaciólaCaixa #Beques #becàriesFundlaCaixa
Dr Aurora Pujol retweeted
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…
Dr Aurora Pujol retweeted
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
ALT Cred: Hernán Cañellas
Dr Aurora Pujol retweeted
The epigenetic basis of cellular heterogeneity go.nature.com/37g8Hir #Review by Benjamin Carter & Keji Zhao
Dr Aurora Pujol retweeted
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. rdcu.be/dojZ5
Dr Aurora Pujol retweeted
📢 New paper out in @GenomeMedicine
👉 ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization
🧑🔬👩🔬 #CNAG has been part of this study, through the project iGenCO @ISGLOBALorg
Congratulations to @PujolLab and the whole team!
Very thankful for the fantastic collaborative work with @cnag_eu @CIBERER @ciberned @VHIR_ @upf @SJDbarcelona_es @NeurologiaHUB @idibell_cat @verdaderavalen @agustipalmero 👉bit.ly/3ZaZ7rz Stronger together!🩺🔬💪🧬
Dr Aurora Pujol retweeted
The importance of the #3D structure of the human genome is under-appreciated. Now add how it progressively remodels as we age
@ScienceMagazine
science.org/doi/full/10.1126… @hyejung_won
science.org/doi/10.1126/scie…
@KarlDeisseroth @tanlongzhi
