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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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 🙌
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
Great @UDNIss meeting in Torino discussing #raredisease #undiagnosed diseases and raising awareness around the world. Outstanding Claudia @cgonzagaj on Mexico initiatives👏👏👏.Tomorrow more fun! @UDNconnect
Moreover, an #epigenomic signature by #EWAS discriminates patients younger than 60, without predisposing factors, who develop severe/critical #COVID-19. 13% of the population bear this signature. Paper in #Ebiomedicine #TheLancet #F1000/#FacultyOpinions
facultyopinions.com/prime/73…
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We have now extended the study with an additional cohort at the Infanta Leonor Hospital in Madrid. We found neutralizing autoantibodies to type I Interferon as a marker of bad prognosis. Early treatment with Interferon would be crucial for these patients.
pubmed.ncbi.nlm.nih.gov/3385…
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