🔥The 9th Round of Easy Loan, Earn $40 Reward is in progress❗️ ⏰ Promotion Period: January 15th - Feburary 15th, 2025 👉 Register now and check more details at gate.io/campaigns/358

Assessment of a Polygenic Risk Score in Screening for Prostate Cancer ▶️Targeted screening for men in top 10% of genetic risk (as we can currently measure!) ▶️ 40% had cancer, >50% needed treatment ▶️ 70% missed by current screening guidelines 😠 nejm.org/doi/full/10.10…

Finally out at Cell, our latest contribution to proteogenomics with #CPTAC The impact of germline variants to the cancer proteome As always, super fun and exciting to work with The Ding Lab Matt Bailey, and this time even with MarigortaLab cell.com/cell/fulltext/…

Recent T1D cases might be showing lower PRS: ▶️diagnosing less "genetic" cases? ▶️changes in genetic architecture due to "new" risk alleles (likely amplification due to GxE)? ▶️changes in disease subtypes? Gotta think about it! 🤔 #T1D #genomics #PRS link.springer.com/article/10.100…

Polygenic risk score for BMI does not associate with weight loss from GLP1 drugs or bariatric surgery. ▶️Treatment works equally regardlesss of "genetics"? ▶️Genetics of susceptibility ain't genetics of response? nature.com/articles/s4159…

Just learned about p-Tau217 in blood as a potential biomarker to Alzheimer’s 15 years before symptoms 😯 erictopol.substack.com/p/the-breakthr…

Epic modeling of the proposed 4 stages of IBD epidemic ➡️Now we can assign stages from incidence/prev data ➡ Reinforces we gotta stop new cases from appearing, specially in places moving to stage 2 ➡️ Health justice angle: lack of data blinds us a lot! nature.com/articles/s4158…

Cool study of response eQTLs 👇 ➡️Immune stimulation with bacterial, viral and adaptive triggers ➡️>55% are seen after stimulation ➡ Most are context-specific eQTL (even with opposite direction), but some due to gene expr. induced (or lost!) journals.plos.org/plosgenetics/a…

#bioGUNE_Thesis | Researcher Adrián Gaite Reguero will defend his #PhD thesis: 📖 “Characterization of the molecular pathways that drive genetic risk in inflammatory bowel disease” 👤 Urko M. Marigorta MarigortaLab 🔗 ow.ly/GIJK50VQSUq 🕜 Thursday, May 15th, 10:30H

So excited to share the publication of the protocol from the EARLY cohort from GETECCU 🙋350 patients 🏥25 sites 🔬Incidental IBD 🧪💩Multi-omics ⏰10 years f-u Manuel Barreiro MarigortaLab Beatriz Mateos More details 👇 journals.sagepub.com/doi/10.1177/17…

In March last year, at the age of 35, I was diagnosed with advanced stage III rectal cancer with a metastasis in my liver. This was a shock: I had no family history, and none of the doctors suspected it. In fact, I'd had a negative occult blood test when I went to ER with severe

Large GWAS for T2D in East Asians, with cool comparisons vs. Europeans. Key findings: "Genetically determined insulin resistance contributes more prominently to T2D in Europeans than in East Asians". Would have loved a comparison across decades! researchsquare.com/article/rs-653…

First personalized in vivo CRISPR base editing in a human to correct a pathogenic mutation. Lovely! 😘 erictopol.substack.com/p/the-first-hu…

Single-cell RNAseq shows significant differences between patients with incidental Crohn's disease vs healthy controls Just published our collaborative study with MarigortaLab CIC bioGUNE Manuel Barreiro OSIBarru-GaldakaoESI frontiersin.org/journals/immun…

▶️Assortative mating induces long-range weak LD ▶️It could explain 20 to 40% of SNP heritability for social traits! ❓Crazy idea: could we focus on specific haplotypes to infer ancestral differences in social structure? (eg. Yamnaya vs. Early Farmers)? nature.com/articles/s4158…

Stratify healthy people before disease strikes? Our new paper 👇 ➡️Multiomic > single-omic for stratification ➡️One cluster shows stable (and silent!) molecular risk with no symptoms, across 3 visits ➡️Clusters mirror routine labs: omics for the clinic? rdcu.be/ekvYk

Matteo Ferro, a doctoral candidate in my team has a new blog on health data science where he is collecting the most interesting papers, each month. Check it out! healthdatascience.substack.com

Atul Butte died yesterday. The world lost a giant. A big bear of a man. With a huge smile. With love for everyone. With energy that could power a room. I loved everything about Atul. I loved how he was always happy. I loved how excited he was about science and helping people.

🔬 #bioGUNE_Research | #CICbioGUNE BRTA - Basque Research and Technology Alliance advances preventive medicine by combining multi-omic data and bioinformatics The study uncovers early molecular risk signals, showcasing the power of local precision medicine in a Basque cohort 🔗 ow.ly/9IWr50WbmCT

Massive investments in proteomics at population level: 👉UK Biobank now fully funded to proceed with 600K samples (500K baseline + 100k follow-up) with Olink Explore HT 👉Geisinger proteomics project to quantify 200K samples also with Olink Explore HT

Delighted to share the preprint on the largest obesity GWAS to date! GWAS from >2 million participants Key: ✳️13% increase in loci discovery ✳️Identified 11 obesity genetic clusters (endotypes) ✳️Obesity management should be as diverse as the condition itself Thread👇