Marios Georgakis (@MariosGeorgakis) / X

Marios Georgakis

3,242 posts

Marios Georgakis

@MariosGeorgakis

MD/PhD leading a lab @LMU_Muenchen | visiting scientist @broadinstitute | writing about human genetics & drug development: substack.com/@mariosgeorgak…

Munich,Germany

Joined August 2018

Marios Georgakis
@MariosGeorgakis
Jul 4, 2025
I read this Cell paper that argues to have discovered a molecule (betaine) that mimics the geroprotective effects of exercise. This is a very valuable multi-omics resource, but the authors seemed to get caught in the rabbit hole of chasing a high-impact narrative🧵
Marios Georgakis
@MariosGeorgakis
Nov 13, 2025
This is a landmark paper on the heritability of human traits👇 Using WGS data from 350K UK Biobank participants, the study shows that rare (>0.01%) and common (>1%) variants across coding and non-coding regions explain almost all (on average 88%) of the heritability (as
Marios Georgakis
@MariosGeorgakis
Dec 29, 2024
A serial omics analysis of wound healing in humans (d0, d1, d7, d30)🔬🧬➡️ I'm not aware of another human study that runs serial scRNAseq and spatial transcriptomics in the same individuals❗️
Marios Georgakis
@MariosGeorgakis
May 18, 2025
Gene expression is controlled by regulatory sequences (promoters/enhancers) & transcription factors🧬 In theory, sequencing + epigenetic data should be enough to predict expression. This Sunday read reviews deep learning models trying to do exactly that👇
Marios Georgakis
@MariosGeorgakis
Nov 14, 2024
Hazard ratio=0.07❗️ That's the ridiculous effect of tirzepatide (dual GIP/GLP1r agonist) on the 3-year incidence of diabetes among patients with obesity It's the kind of massive effect you expect for vaccines, not chronic disease prevention. nejm.org/doi/full/10.10…
Marios Georgakis
@MariosGeorgakis
Nov 7, 2025
As an MD/PhD, I'm probably biased here, but I find these oversimplified generalizations hard to understand. A quick look at any list of influential biomedical scientists (Nobel laureates, leaders across fields, big pharma CSOs, biotech founders) shows that MD/PhDs (or MDs deeply
Jason Locasale
@LocasaleLab
Nov 5, 2025
The physician–scientist track (MD/PhD) in academic medical centers has become one of the great illusions of modern science - a path that promises to unite medicine and science but rarely fulfills either goal. Training stretches on for years as one person is expected to learn two
Marios Georgakis
@MariosGeorgakis
Aug 26, 2025
I'm often asked how human genetics can be used to validate drug targets. In our new @NatureCVR paper, we provide an end-to-end framework for IL-6 inhibition🧵 👉build a genetic proxy 👉demonstrate potential for cardiovascular benefit 👉assess expected & unexpected safety signals
Marios Georgakis
@MariosGeorgakis
Apr 26, 2024
3 reviews @CellCellPress about the immune system: 👉 Innate immunity: cell.com/cell/fulltext/… 👉Adaptive immunity: cell.com/cell/fulltext/… 👉New perspectives: cell.com/cell/fulltext/…
Marios Georgakis
@MariosGeorgakis
Jun 22, 2025
My weekly read list is back❗️🧵 From computational biology to translational research, 7 reads on genetics, omics, and deep phenotyping 🧬💊🧪 1⃣WGS for all newborns in England 2⃣Perturb-seq atlas of the entire human genome 3⃣Spatial single-cell atlases of human anatomy
Marios Georgakis
@MariosGeorgakis
Jul 14, 2025
There were quite a few interesting papers on genetics, omics, and deep phenotyping last week👇
Marios Georgakis
@MariosGeorgakis
May 6, 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👇
Marios Georgakis
@MariosGeorgakis
Sep 6, 2024
I found this review on protein isoforms, derived from alternative splicing, very interesting 👉most genes produce multiple protein isoforms🧬🔄 👉isoforms can be tissue-/disease-specific 👉potential for therapeutic modulation or for biomarker discovery nature.com/articles/s4157…
Marios Georgakis
@MariosGeorgakis
Nov 24, 2024
This @CellCellPress paper making the most of the #proteomics resource of the UK Biobank is a great Sunday read📖❗️ 🔗cell.com/cell/fulltext/… It highlights at scale the areas, where proteomics could provide meaningful insights: 🧵
Marios Georgakis
@MariosGeorgakis
Oct 24, 2025
The reality is that even with very large sample sizes (women: 130K cases/159K controls, men: 65K cases/132K controls), the study didn't find a single significant genotype-by-sex interaction. The larger number of genome-wide hits in women is simply the result of more power.
nature
@Nature
Oct 23, 2025
A comprehensive genome analysis suggests that women have more genetic risk variants for major depressive disorder than do men, with stronger links to metabolic traits go.nature.com/47rZnXR