Marios Georgakis
@mariosgeorgakis.bsky.social
Physician-scientist leading a lab @lmumuenchen.bsky.social, visiting scientist
@broadinstitute.org | Writing about genetics, omics, deep phenotyping, precision medicine
https://www.deepvasc.com/
@broadinstitute.org | Writing about genetics, omics, deep phenotyping, precision medicine
https://www.deepvasc.com/
Pinned
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 🧵
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 🧵
Reposted by Marios Georgakis
@mariosgeorgakis.bsky.social , not recently active on #Bluesky, on the methods for prioritizing drug targets for complex diseases using human genomic data
November 10, 2025 at 10:19 AM
@mariosgeorgakis.bsky.social , not recently active on #Bluesky, on the methods for prioritizing drug targets for complex diseases using human genomic data
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
October 5, 2025 at 8:56 PM
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
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.
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.
Some people call it a minefield. Others call it dangerous, even irresponsible. I call it the most promising field in life sciences.
My love letter to social science genetics: communities.springernature.com/posts/a-love...
My love letter to social science genetics: communities.springernature.com/posts/a-love...
A Love Letter to Social Science Genetics
Some people call social science genetics a minefield. Others call it dangerous, even irresponsible. I call it the most promising field in life sciences.
communities.springernature.com
September 11, 2025 at 9:09 PM
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.
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.
Reposted by Marios Georgakis
Extremely proud to see this work led by @mihkeljesse.bsky.social now out on biorxiv!
After 1.5 years of work in @kauralasoo.bsky.social’s lab, we finally published my preprint! We introduce gpu-coloc, a GPU-accelerated implementation of coloc, show comparability to CLPP and aim to provide practical guidelines. Now accessible on BioRxiv: www.biorxiv.org/content/10.1...
Ultra-fast genetic colocalisation across millions of traits
Colocalisation is a powerful approach to assess if two genetic association signals are likely to share a causal variant. However, association analyses in large biobanks and molecular quantitative trai...
www.biorxiv.org
August 27, 2025 at 1:13 PM
Extremely proud to see this work led by @mihkeljesse.bsky.social now out on biorxiv!
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 🧵
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 🧵
August 27, 2025 at 2:02 PM
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 🧵
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 🧵
Reposted by Marios Georgakis
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...
www.nature.com/articles/s44...
www.nature.com/articles/s44...
August 27, 2025 at 1:46 AM
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...
www.nature.com/articles/s44...
www.nature.com/articles/s44...
Amid the hype of using polygenic scores for embryo selection, some thoughts on their implementation potential in real-world settings (and problems) 👇
August 19, 2025 at 9:26 PM
Amid the hype of using polygenic scores for embryo selection, some thoughts on their implementation potential in real-world settings (and problems) 👇
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👇
In this paper with the Tourmaline Bio team, we review how genetics pinpointed IL-6 signaling as a causal driver of athero-inflammation👇
August 3, 2025 at 7:51 PM
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👇
In this paper with the Tourmaline Bio team, we review how genetics pinpointed IL-6 signaling as a causal driver of athero-inflammation👇
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👇
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👇
July 5, 2025 at 12:14 PM
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👇
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👇
Reposted by Marios Georgakis
🚨ICYMI 🫀🧬 from @mariosgeorgakis.bsky.social & co
📄Single-cell transcriptome-wide Mendelian randomization and colocalization analyses uncover cell-specific mechanisms in atherosclerotic cardiovascular disease
📄Single-cell transcriptome-wide Mendelian randomization and colocalization analyses uncover cell-specific mechanisms in atherosclerotic cardiovascular disease
Single-cell transcriptome-wide Mendelian randomization and colocalization analyses uncover cell-specific mechanisms in atherosclerotic cardiovascular disease
We present a stringent single-cell analytical framework using transcriptome-wide Mendelian
randomization and colocalization. By resolving cell-type-specific expression effects
missed by bulk methods, ...
www.cell.com
June 30, 2025 at 3:52 PM
🚨ICYMI 🫀🧬 from @mariosgeorgakis.bsky.social & co
📄Single-cell transcriptome-wide Mendelian randomization and colocalization analyses uncover cell-specific mechanisms in atherosclerotic cardiovascular disease
📄Single-cell transcriptome-wide Mendelian randomization and colocalization analyses uncover cell-specific mechanisms in atherosclerotic cardiovascular disease
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👇
Yet, we lack circulating biomarkers for systemic atherosclerosis burden.
Check out our new preprint describing the development of proteomic signatures of atherosclerosis👇
June 17, 2025 at 12:15 PM
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👇
Yet, we lack circulating biomarkers for systemic atherosclerosis burden.
Check out our new preprint describing the development of proteomic signatures of atherosclerosis👇
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👇
Now, it seems we could use genetic variation to predict 3D face structures with key implications for both forensic science and ethics👇
May 28, 2025 at 12:28 PM
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👇
Now, it seems we could use genetic variation to predict 3D face structures with key implications for both forensic science and ethics👇
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)?
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)?
May 25, 2025 at 11:06 AM
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)?
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)?
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💉
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💉
May 20, 2025 at 6:06 PM
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💉
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💉
Interesting paper on sex differences in the genetic regulation of the plasma proteome in Fenland (N=8348, SomaLogic) and UKB (N=48,017, Olink)👇
May 18, 2025 at 6:01 PM
Interesting paper on sex differences in the genetic regulation of the plasma proteome in Fenland (N=8348, SomaLogic) and UKB (N=48,017, Olink)👇
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 🧬-->💊
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 🧬-->💊
May 14, 2025 at 1:12 PM
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 🧬-->💊
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 🧬-->💊
A great week for genetics, omics, and precision medicine — many exciting reads 🧬
1⃣ Circadian gene expression regulation by rhythmic genetic variants
🧵[1/8]
1⃣ Circadian gene expression regulation by rhythmic genetic variants
🧵[1/8]
May 12, 2025 at 7:40 AM
A great week for genetics, omics, and precision medicine — many exciting reads 🧬
1⃣ Circadian gene expression regulation by rhythmic genetic variants
🧵[1/8]
1⃣ Circadian gene expression regulation by rhythmic genetic variants
🧵[1/8]
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👇
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👇
May 10, 2025 at 4:05 PM
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👇
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👇
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👇
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👇
May 7, 2025 at 7:24 AM
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👇
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👇
Exciting reads on genetics, omics, & precision medicine this week 🧬
1⃣ Tissue-specific atlas of protein co-abundance
[1/6] 🧵
1⃣ Tissue-specific atlas of protein co-abundance
[1/6] 🧵
May 5, 2025 at 2:19 PM
Exciting reads on genetics, omics, & precision medicine this week 🧬
1⃣ Tissue-specific atlas of protein co-abundance
[1/6] 🧵
1⃣ Tissue-specific atlas of protein co-abundance
[1/6] 🧵
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
👉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
May 5, 2025 at 6:35 AM
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
👉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
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.
Slight differences in inclusion criteria (e.g. long-term vs. any use), but both generally point to a benefit.
May 4, 2025 at 11:31 AM
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.
Slight differences in inclusion criteria (e.g. long-term vs. any use), but both generally point to a benefit.
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.
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.
May 3, 2025 at 6:35 PM
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.
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.
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) 🧠
It identifies tertiary lymphoid organs within plaques and links them to symptomatic cerebrovascular disease (stroke/TIA) 🧠
May 3, 2025 at 4:56 PM
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) 🧠
It identifies tertiary lymphoid organs within plaques and links them to symptomatic cerebrovascular disease (stroke/TIA) 🧠
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📈
A new approach introduces a framework for MR analyses that captures trait trajectories over time📈
April 28, 2025 at 5:08 PM
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📈
A new approach introduces a framework for MR analyses that captures trait trajectories over time📈