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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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! bit.ly/3Kxg8UZ #NeuroTwitter
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!
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
Awesome place to work !@DEF_Lab_HMS
Come & join our team @BostonChildrens @FMKirbyNeuro @harvardmed as a post-doctoral fellow #neuroscience #cellbio & develop novel therapies for #raredisease #movementdisorders #neurogenetics @ASGCTherapy @the_asci @SfNtweets @ASCBiology @ChildNeuroSoc @movedisorder @ncats_nih_gov
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Our article @GenomeMedicine 👉ClinPrior: a novel computational tool for @genomics diagnosis and @gene discovery by interactome-based prioritization
pubmed.ncbi.nlm.nih.gov/3767…
applied to a cohort of @spasticParapleg, #ataxias and #leukodystrophies solving 70% of cases.
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!🩺🔬💪🧬
Huge Thanks @DariusFakhari for the invitation!. Sharing excitement on network efforts to solve @spasticparapleg @SpasticWorld , from genomic diagnosis to therapies! Together for the undiagnosed @UDNIss @UDNconnect @BostonChildrens @DEF_Lab_HMS @CIBERER
Grateful to @PujolLab @CIBERER @idibell_cat @SanofiUS for giving our group @BostonChildrens a special seminar on the role of lipids in #hsp #neurodegeneration #raredisease - and sharing experience with RINT1. Her fascinating work from academia -> industry continues to inspire!
The genetic architecture and evolution of the human skeletal form | Science science.org/doi/full/10.1126…
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Spasticity, ataxia, developmental delay, liver failure: think RINT1 loss of function, a novel #ultrarare #genetic disorder of chilhood. Thrilled to see our work in the Cover of #jclinicalinvest, ending #Diagnostic #Odysee and improving patient management.
#Cover: RINT1 mutation in complex hereditary spastic paraplegia: buff.ly/3JUWBPO
The cover art depicts lipid droplets budding out from the ER, close to mitochondria.
Image credit: Nathalie Launay
@PujolLab @CIBERER
#Metabolism #Neuroscience
RINT1 deficiency impacts #lipid droplets, #lipid trafficking, #phospholipid metabolism, #mitochondria dynamics. Very proud of my team at @idibell_cat @ciberer @icreacommunity and thankful to @casanova_lab @AreaEstela @felixmendu @ICFOnians @NeurologiaHUB
#ceramide synthesis at the #mitochondria associated #ER membranes is essential for the #MAM integrity and for #myelin formation. Patients with biallelic variants suffer from #leukodystrophy and #neuropathy, often lethal.
#Cover: Sphingolipid metabolism in mitochondria-associated endoplasmic reticulum membrane function: buff.ly/44XAFfK
EM of mitochondria from a control individual (center)& mitochondria with aberrant morphology from hypomyelinating leukodystrophy-18 patients (along spiral)
great collaborative work on the cover of @jclinicalinvest, with @idibell_cat ; @SJDbarcelona_es ; @CIBERER @ICFOnians @icreacommunity @AGarciaCazorla @p_portero @irblleida @Columbia @AreaEstela @KennedyKrieger Thanks all! #ultrarare diseases matter! @AsoELA
A shared epigenetic signature in #MISC #COVID19 and #kawasaki disease children. Such a pleasure to work with @ManelEsteller @carrerasIJC and many Spanish hospitals @CIBERER @AEGH @idibell_cat @agustipalmero @SJDbarcelona_es
Researchers from @ManelEsteller's lab and @PujolLab (@idibell_cat) identified a #DNA #methylation signature associated to the development of Multisystem Inflammatory Syndrome in Children #MISC after #COVID19.
➡️ carrerasresearch.org/en/disc…
Published on @eClinicalMed (@TheLancet)
A novel finding in @SciImmunology underscoring the importance of the IFN response and AutoAbs to fight #COVID19. Very glad of contributing to the consortium #CovidHGE and congrats to @CasanovaLab and colls!
1/ In @SciImmunology we report that about 25% of vaccinated patients with critical C-19 pneumonia and a normal Ab response to the vaccine have high levels of auto-Abs to type I IFN (science.org/doi/10.1126/scii…).
Excelentes avances en diagnóstico y tratamiento para #EERR enfermedades minoritarias en #RACIBERER2022 @CIBERER 👏👏👏👏Reencuentro muy esperado con amig@s y colaborador@s @FEDER_ONG @AEGHgenetica @BelenPerezGlez @VicMarGlez @xdopazo @RarasReales @AsoELA
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Premios muy reñidos para mejor presentación oral para Ana Rivera, y poster para @elopezgranados de @INGEMM_HULP sobre diagnóstico de errores congénitos de inmunidad.
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Un placer explicar con @pereestupinya los avances en #enfermedadesraras,del diagnóstico al tratamiento. La Medicina Genómica soluciona odiseas diagnósticas. Abrazos a las familias! Gracias a @CIBERER @cnag_eu @ConsiglioLab @AsoELA @CREER @UPFbiomed
Uno de los aspectos más intrigantes de la medicina, las enfermedades raras, hoy 20h en @cazadorcerebros @la2_tve.
Alucinante cómo lo último en biotecnología como la secuenciación y data science, organoides, terapia génica... están descubriendo sus misterios
Y gracias a Luis Pérez-Jurado por liderar el programa para enfemedades neurológicas sin diagnóstico @urdcat2017 con @cnag_eu , y al gran @LluisMontoliu por organizar el sarao 👏👏👏 No os perdais @cazadorcerebros !
Un plaer xerrar aquest mati amb l.inconformista, inspirador i motor de canvi @oriolmitja. Llegir ens fa millors persones #SantJordi22 👏👏👏
Qui ha de comprar #El_món_que_ens_espera ❓
✅ Els que creieu que es pot canviar alguna cosa,
✅ Els que sou feliços quan ajudeu algú,
✅ Els que desitgeu que l'esperança us retorni un motiu per viure.
Els inconformistes, els solidaris, i els desesperançats. Bon Sant Jordi.😘
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Genetic atlas of refractory #epilepsy, inspiring work combining #WES, deep sequencing, #scRNAseq to broaden understanding of brain mosaicism. Thanks and congratulations ! @jogleeson_ucsd 👏👏👏
1/5. We are excited to share our new manuscript 'Comprehensive multiomic profiling of somatic mutations in malformations of cortical development'. This was a 10-year effort to reveal new genetic causes of intractable epilepsy. biorxiv.org/content/10.1101/…
‘A step to nowhere’: Russian scientist organizes protest of Ukraine war science.org/content/article/…
A pleasure to work with @HeidiRehm of @broadinstitute and @UDNconnect @UDNIss along with colleagues at @CIBERER for discovery of a novel disease gene PI4KA causing complex neurological disorder. Happy #RareDiseaseDay!
Cameron and Emma are two children living with rare genetic diseases. Scientists discovered which genes are causing their disorders with the help of a #RareDisease research network known as Matchmaker Exchange. Learn more: broad.io/MatchmakerStory
Always with the most vulnerable, and for peace and freedom @eshgsociety @CIBERER @AEGHgenetica @idibell_cat @markuss1305
