1/3 of disease-causing variants are estimated to alter gene splicing🧬 👉Important effort to sum published data of experimental splicing validation 👉50,000 variants in 8,000 genes 📊Database: SpliceVarDB compbio.ccia.org.au/splicevardb/ 📰Paper: cell.com/ajhg/fulltext/… AJHG

Nice example of genomic overlap methods. However, the neuropsychology literature feels so chaotic❗️ Across studies, different cognitive domains are defined by different tests validated under different conditions - and all tests are highly correlated. nature.com/articles/s4146…

List of FDA-approved RNA drugs by 2023💉🧬 From: cell.com/action/showPdf…

Booked my outbound flights for #HBAntarctica2025! I'm fundraising to support my involvement & projects with this non-profit: chuffed.org/pay/campaign/9…. Even the cost of a coffee helps! Thank you! Interested in data collection? Reach out! Learn more about it: homewardboundprojects.com.au/the-island-sky…

Nice summary by Alzforum of the manuscript in which we report a CSF and plasma proteomic analyses of Autosomal Dominant #Alzheimers , finding novel biomarkers that start changing 20 years before onset: cell.com/cell/fulltext/…

⏳We are very excited to welcome you next week at the Symposium on Intracerebral Hemorrhage and the III Annual Stroke Congress from Ricors-Ictus 📄You can download the program here: dropbox.com/s/anispu782qzl… 🏥See you at Vall d'Hebron Institut de Recerca 👋

🤖 Intel·ligència artificial i recerca. 🗣️ El Toni Andreu, director científic de EATRIS ha estat el convidat per fer la conferència anual de la #18JornadaCientíficaVH. Gràcies pel que ens has explicat 💜.

BREAKING NEWS The 2024 #NobelPrize in Physiology or Medicine has been awarded to Victor Ambros and Gary Ruvkun for the discovery of microRNA and its role in post-transcriptional gene regulation.

Great start of Ricors-Ictus by Dr. Joan Martí about ICH classification 🩸🧠 Institut de Recerca Sant Pau Neurología. Hospital de la Santa Creu i Sant Pau

This year's Ricors-Ictus meeting is hosting a monographic on #IntracefebralHemorrage with a wide array of research topics -from preclinical models to clinical practice- by leading National and International Researchers #RICORS24

Very interesting talk about the proteome of circulating extracellular vesicles as biomarkers of damage in #ICH by Dr. María Alonso of Hospital La Paz 2030 at Ricors-Ictus

Very inspiring talk by Dr Mira Katan from University of Basel about 🩸 based #biomarkers at Ricors-Ictus

Fantastic talk by Dr Joan Montaner from IBiS about blood biomarkers measured in the ambulance to decipher between ICH and IS Ricors-Ictus

Great talks today at the Ricors-Ictus Symposium on ICH 🧠

WOW, the group photo from yesterday’s ICH symposium is breathtaking 🫢 Having so many great researchers coming to this small meeting makes us so proud! Thank you 🙏

🔊We’re hiring! Buscamos neurolog@s 👩‍⚕️interesados en realizar investigación en CADASIL en Stroke Pharmacogenomics and Genetics 👩‍💻y un 30% de asistencia en epilepsia ⚡️ Neurología. Hospital de la Santa Creu i Sant Pau 🏥 Posibilidad de solicitar Río Hortega y Juan Rodes. Interesados escribir a: [email protected] Institut de Recerca Sant Pau

Thrilled to share our latest study on genetic risk factors of ischemic stroke in spanish population 🧬🧠 We uncovered new genetic loci associated to stroke subtypes and explored key differences between men amd woman by sex-stratified analysis. ahajournals.org/doi/10.1161/ST…

We are looking for a #neurologist interested in #Stroke and #epilepsy to combine CADASIL research and clinical practice. This is a fully funded position at Stroke Pharmacogenomics and Genetics Institut de Recerca Sant Pau and Sant Pau - Campus Salut Barcelona

As this year's Ricors-Ictus meeting concludes, I'm reflecting on the health and strong #stroke research community in Spain The #RICORS net encompasses 28 research groups and 9 clinical associates groups across the country

Proteome-wide observational, Mendelian randomization, and cocol analyses for myoc infarction, ischemic stroke, and heart failure in UK and China Kadoorie biobanks. 👉strongest associations across methods, biobanks, endpoints: FURIN, PROCR, GFG5, MMP12 📰nature.com/articles/s4416…