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Reposted by Marios Georgakis

Biomedical Picture of the Day BPoD @bpodaily.bsky.social · 01/10/2026

Banking the Deposits: Atherosclerotic plaques characterised in patients undergoing surgery for atherosclerotic disease launches the AtherOMICS biobank study 📷 Luka Živković et al @mariosgeorgakis.bsky.social lab @lmu.de in @science.org Advances ➡️ bpod.org.uk/archive/2026...

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Marios Georgakis @mariosgeorgakis.bsky.social · 16/08/2026

The IL-6 inhibitor ziltivekimab failed to reduce cardiovascular events in the ZEUS trial by Novo, which enrolled over 6,300 patients with atherosclerotic cardiovascular disease, chronic kidney disease, and hsCRP ≥2 mg/L. The HR for major cardiovascular events was a disappointing 0.99.

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Marios Georgakis @mariosgeorgakis.bsky.social · 25/05/2026

In a prospective validation of a genetically supported target, asundexian, a factor XIa inhibitor is now moving toward approval for secondary stroke prevention following the positive phase 3 OCEANIC-STROKE trial. open.substack.com/pub/thecodon...

open.substack.com

Factor XI inhibition: from human genetic signal to the clinic

Asundexian moving toward approval for secondary stroke prevention

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Marios Georgakis @mariosgeorgakis.bsky.social · 21/05/2026

There’s an increasingly popular social media debate about whether LDL is the main driver of atherosclerosis. Beyond numerous trials, human genetic data represent a key evidence pillar that links LDL with atherosclerosis. I wrote a long piece on the topic open.substack.com/pub/thecodon...

open.substack.com

The cholesterol debate through the lens of human genetics

How strong is the genetic evidence supporting LDL as the causal driver of cardiovascular disease?

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Reposted by Marios Georgakis

Nicholas Mancuso @nmancuso.bsky.social · 14/04/2026

Thrilled to see this out. What started out as a chat several years back with @drfejzo.bsky.social about leveraging publicly available data on hyperemesis gravidarum GWAS turned into a wonderful collaboration with April Shu, @mvaudel.bsky.social, @xwww.bsky.social and many others! rdcu.be/fdl9k

rdcu.be

Multi-ancestry genome-wide association study of severe pregnancy nausea and vomiting

Nature Genetics - Multi-ancestry GWAS meta-analysis identifies risk loci for severe nausea and vomiting of pregnancy. Downstream analyses explore maternal and fetal contributions of these loci and...

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Marios Georgakis @mariosgeorgakis.bsky.social · 14/04/2026

Our new paper at JACC: Heart Failure (@jaccjournals.bsky.social) provides human genetic support for a link between IL-6 inhibition and lower risk of heart failure. www.sciencedirect.com/science/arti...

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Marios Georgakis @mariosgeorgakis.bsky.social · 17/03/2026

In our new preprint, we develop a genetic proxy for hepatic AGT synthesis inhibition, enabling human genetic validation of a promising emerging antihypertensive target. AGT is an emerging target of liver-delivered RNA-based antihypertensive therapeutics👇

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Marios Georgakis @mariosgeorgakis.bsky.social · 14/03/2026

You might have heard the claim that human genetic evidence increases drug success rate by 2-3 times. I did a deep dive into the paper making the claim, discussing the nuances of using human genetic insights in drug development.

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Reposted by Marios Georgakis

European Stroke Organisation @esostroke.bsky.social · 14/12/2025

#ESSW2025 session report: Session II brought together Dr. Shoamanesh, Dr. Strbian, Marios Georgakis & Dr. Gauberti to explore how stronger methodology can move #StrokeResearch closer to clinical practice. 🔗Read the #ESOBlog: ow.ly/kF9U50XHkGh #Stroke #Neurology

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Marios Georgakis @mariosgeorgakis.bsky.social · 23/11/2025

In our new preprint, we present the largest genomic exploration of arterial aging to date, leveraging photoplethysmography (PPG)–derived pulse waveforms from 115,000 UK Biobank participants. Our results provide insights into potential strategies to mitigate arterial aging👇

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Reposted by Marios Georgakis

Albert Vilella, PhD. @albertvilella.bsky.social · 10/11/2025

@mariosgeorgakis.bsky.social , not recently active on #Bluesky, on the methods for prioritizing drug targets for complex diseases using human genomic data

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Marios Georgakis @mariosgeorgakis.bsky.social · 05/10/2025

If you're up for a niche read on challenges in translating anti-inflammatory therapies for atherosclerotic stroke prevention, have a look at our review in Neurology

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Marios Georgakis @mariosgeorgakis.bsky.social · 11/09/2025

A great read👇 Some social science genetics papers are among the most interesting and methodologically rigorous I've read. From biology to mating choices and inequalities, they deal with very fundamental concepts of what makes as humans.

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Reposted by Marios Georgakis

Kaur Alasoo @kauralasoo.bsky.social · 27/08/2025

Extremely proud to see this work led by @mihkeljesse.bsky.social now out on biorxiv!

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Marios Georgakis @mariosgeorgakis.bsky.social · 27/08/2025

I'm often asked how human genetic data can be used to validate drug targets. In our new ‪@natcardiovascres.nature.com‬ paper, we provide an end-to-end framework for genetically validating IL-6 inhibition for atherosclerotic cardiovascular disease outcomes 🧵

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Reposted by Marios Georgakis

Waggoner Lab @labwaggoner.bsky.social · 27/08/2025

IL-6 inhibition lower risks of cardiovascular disease with no increase in infection, supporting pharmacological treatments of IL-6 rather than its receptor @natcardiovascres.nature.com @mariosgeorgakis.bsky.social www.nature.com/articles/s44... www.nature.com/articles/s44...

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Marios Georgakis @mariosgeorgakis.bsky.social · 19/08/2025

Amid the hype of using polygenic scores for embryo selection, some thoughts on their implementation potential in real-world settings (and problems) 👇

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Marios Georgakis @mariosgeorgakis.bsky.social · 03/08/2025

The modern cardiovascular drug development landscape has been largely shaped by human genetic studies. Emerging IL-6 therapeutics are a landmark example. In this paper with the Tourmaline Bio team, we review how genetics pinpointed IL-6 signaling as a causal driver of athero-inflammation👇

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Marios Georgakis @mariosgeorgakis.bsky.social · 05/07/2025

We recently published a preprint with the protocol & pilot data from 𝐀𝐭𝐡𝐞𝐫𝐎𝐌𝐈𝐂𝐒. AtherOMICS is a biobanking project built in our lab over the past 3 years aiming to provide access to multi-omics/multi-modal data from human atherosclerotic tissue❗ Some innovations of AtherOMICS👇

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Marios Georgakis @mariosgeorgakis.bsky.social · 17/06/2025

Atherosclerotic cardiovascular disease (ASCVD) remains the leading cause of death worldwide. Yet, we lack circulating biomarkers for systemic atherosclerosis burden. Check out our new preprint describing the development of proteomic signatures of atherosclerosis👇

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Marios Georgakis @mariosgeorgakis.bsky.social · 28/05/2025

Facial characterisics are to a very large extent genetically determined🧬🤓 Now, it seems we could use genetic variation to predict 3D face structures with key implications for both forensic science and ethics👇

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Marios Georgakis @mariosgeorgakis.bsky.social · 25/05/2025

I read the latest GWAS on long COVID. Is it just me, or is it odd that the main analysis used population controls (broad definition) instead of individuals with SARS-CoV-2 infection without long COVID (strict definition)?

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Marios Georgakis @mariosgeorgakis.bsky.social · 20/05/2025

A new IL-6–targeting agent enters the inflammation space in cardiovascular disease❗️ Pacibekitug (Tourmaline Bio), an s.c. anti-IL6 mAb showed hsCRP reductions in patients with stage 3/4 CKD and hsCRP>2 mg/dl in phase 2. Big advantage the potential for quarterly dosing💉

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Marios Georgakis @mariosgeorgakis.bsky.social · 18/05/2025

Interesting paper on sex differences in the genetic regulation of the plasma proteome in Fenland (N=8348, SomaLogic) and UKB (N=48,017, Olink)👇

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Marios Georgakis @mariosgeorgakis.bsky.social · 14/05/2025

Great review of the evolving landscape of therapeutics targeting triglycerides & remnant cholesterol. Human genetics has been key to shaping this field with discoveries of loss-of-function variants in APOC3, ANGPTL3, ANGPTL4 having directly triggered clinical development 🧬-->💊

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Marios Georgakis @mariosgeorgakis.bsky.social · 12/05/2025

A great week for genetics, omics, and precision medicine — many exciting reads 🧬 1⃣ Circadian gene expression regulation by rhythmic genetic variants 🧵[1/8]

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Marios Georgakis @mariosgeorgakis.bsky.social · 10/05/2025

Profiling the proteome has turned out to be a challenging task. Available platforms offer increasingly broader coverage, but often yield different results for the same proteins. This preprint compares quantifications of mass spectrometry & Olink in the same samples👇

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Marios Georgakis @mariosgeorgakis.bsky.social · 07/05/2025

Most disease-associated GWAS signals fall in the non-coding genome🧬 Although assumed to influence expression, pinpointing the causal gene isn't easy. Two ways include: 1⃣eQTL mapping in relevant tissues/cells 2⃣in vitro CRISPRi screens This preprint compares the two👇

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Marios Georgakis @mariosgeorgakis.bsky.social · 05/05/2025

Exciting reads on genetics, omics, & precision medicine this week 🧬 1⃣ Tissue-specific atlas of protein co-abundance [1/6] 🧵

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Marios Georgakis @mariosgeorgakis.bsky.social · 05/05/2025

Two presentations from our lab this week🚨 👉Lanyue Zhang, awarded a Young Investigator Fellowship, on proteomic signatures of atherosclerosis at the EAS Congress in Glasgow 👉Anushree Ray, recipient of a Travel Award, on single-cell drivers of atherosclerosis at the CHARGE meeting in Maryland

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Marios Georgakis @mariosgeorgakis.bsky.social · 04/05/2025

Two meta-analyses in Eur Heart J, pool the available trial data on the use of colchicine for secondary prevention of cardiovascular events. Slight differences in inclusion criteria (e.g. long-term vs. any use), but both generally point to a benefit.

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Marios Georgakis @mariosgeorgakis.bsky.social · 03/05/2025

Genomic research largely overrepresents European ancestry individuals. This map shows the genomic ancestry of individuals recruited to All of Us across US states. While still predominantly European, it is possibly one of the most diverse biomedical datasets out there.

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Marios Georgakis @mariosgeorgakis.bsky.social · 03/05/2025

A very nice paper applying spatial single-cell transcriptomics (Stereo-seq) to human carotid plaques❗️ It identifies tertiary lymphoid organs within plaques and links them to symptomatic cerebrovascular disease (stroke/TIA) 🧠

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Marios Georgakis @mariosgeorgakis.bsky.social · 28/04/2025

Most GWAS and Mendelian randomization (MR) studies focus on trait exposures measured at a single time point🧬 A new approach introduces a framework for MR analyses that captures trait trajectories over time📈

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Marios Georgakis @mariosgeorgakis.bsky.social · 27/04/2025

Reads and resources that caught my eye on genetics, omics, and deep phenotyping this week 🧬 1⃣ A new multimorbidity framework for disease risk prediction [1/8]🧵

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Marios Georgakis @mariosgeorgakis.bsky.social · 26/04/2025

Additional data highlight the strong impact of elevated Lp(a) — which is highly genetically determined — on atherosclerotic cardiovascular disease. 🧵[1/4]

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Marios Georgakis @mariosgeorgakis.bsky.social · 25/04/2025

New GWAS for intracranial aneurysms, the main cause of subarachnoid hemorrhage (associated with 50% mortality) 👉MVP, FinnGen & previous IA GWAS 👉15,438 cases & 1.2M controls 👉22 loci (5 novel) pointing to genes related to SMCs and pericytes [1/3]

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Marios Georgakis @mariosgeorgakis.bsky.social · 24/04/2025

Massive multi-ancestry GWAS resource for 1,167 clinical traits & diseases in 6 global biobanks (n=1,789,365) 👉29,139 locus-trait pairs 👉2,624 non-overlapping loci across the genome 👉associated with 6 traits each (median) 👉colocalization across traits for 72% of loci [1/3]

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Marios Georgakis @mariosgeorgakis.bsky.social · 19/04/2025

I find it very interesting that in the 20-year anniversary of the first GWAS hit (CFH for age-related macular degeneration), a new paper uses whole-exome sequencing to uncover a new causal gene in the same locus. Speaks of the challenges of translating genomic signals to causal genes/mechanisms.

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Marios Georgakis @mariosgeorgakis.bsky.social · 18/04/2025

This week was the 20th anniversary of the first GWAS that reported a significant finding for a disease trait (age-related macular degeneration). A @nature.com historical lookback on the impact and future of GWAS

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Reposted by Marios Georgakis

Kaur Alasoo @kauralasoo.bsky.social · 13/04/2025

We've just posted an updated version of our metabolic trait GWAS preprint. The GWAS summary statistics are still the same as in October, but we've included several new follow-up analyses and completely rewritten the manuscript! See thread below for some highlights. www.medrxiv.org/content/10.1...

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Marios Georgakis @mariosgeorgakis.bsky.social · 13/04/2025

Interesting reads on genetics, omics & precision medicine from this week🧬 A 🧵 1⃣ Distribution atlas of the human proteome...

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Marios Georgakis @mariosgeorgakis.bsky.social · 29/03/2025

Most genetic variants associated with human disease are assumed to act by influencing gene expression. Expression is regulated at the cell level, but most resources linking variants to expression come from tissue-level data Two advances in the world of single-cell eQTLs🧵 1/9

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Marios Georgakis @mariosgeorgakis.bsky.social · 25/03/2025

Analyses of rare genetic variants, especially in coding regions, provide unique insights into causal disease mechanisms—much more straightforward than common variant analyses 🧬 In deCODE (Iceland) and UK Biobank, loss-of-function variants in HECTD2 and AKAP11 were associated with bipolar disorder 🧠

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Marios Georgakis @mariosgeorgakis.bsky.social · 25/03/2025

Weekly read list on genetics, multiomics & precision medicine🧵 1⃣ Immune cell-specific gene expression in Asians In 619 Asian donors, scRNAseq-GWAS integration enabled the discovery of molecular immune cell signatures and offered a great resource of single-cell eQTLs 🔗 www.cell.com/cell/fulltex...

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Marios Georgakis @mariosgeorgakis.bsky.social · 22/03/2025

Sharing our new paper on rare damaging CCR2 variants that are associated with protection against atherosclerotic cardiovascular disease 🧬 🫀 A short thread about the topline findings🧵

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Marios Georgakis @mariosgeorgakis.bsky.social · 09/03/2025

Interesting week reads and resources on human genetics, omics & precision medicine🧵 1⃣From a dog GWAS to a new obesity target! DENND1B variants were the top GWAS signal for obesity in 241 Labrador retrievers—DENND1B variants were also associated with BMI in UK Biobank 🔗 science.org/doi/10.1126/...

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Marios Georgakis @mariosgeorgakis.bsky.social · 08/03/2025

A lot to learn from this GWAS of heart failure (HF) & subtypes (153,174 cases, 1,793,175 controls) 👉59 conditionally independent variants across 56 loci 👉exploration of genetic effect heterogeneity across 5 ancestries 👉SNP-based heritability (5.4% for combo HF phenotype) 1/5

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Marios Georgakis @mariosgeorgakis.bsky.social · 05/03/2025

Interesting last week reads on human genetics, multiomics & precision medicine🧵 1⃣ Coding & non-coding genetic determinants of circulating proteome Integrating WGS & proteomics, this resource offers genome-wide associations of rare variants with 2,907 proteins 🔗 nature.com/articles/s41...

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