Eric Fauman (he/him)
@ericfauman.bsky.social
GWAS whisperer. It's usually the closest gene. Executive Director, Integrative Biology, Internal Medicine Research Unit. Pfizer R&D. All views my own. Also cats.
@inmice.bsky.social Here's one for you www.sciencedaily.com/releases/202...
New treatment cuts cholesterol by nearly 50%, without statins or side effects
Researchers have developed a DNA-based therapy that targets the PCSK9 gene to lower cholesterol naturally. Using polypurine hairpins, they increased cholesterol uptake by cells and reduced artery-clog...
sciencedaily.com
If you didn't get your certificate were you really even there?
Quick quiz. This is a plot of how often each p-value appears in this @gwascatalog.bsky.social. Actually I binned the -log10(p) values to their integer values (e.g., 8-9, 9-10, etc). I'm highlighting 3 outliers here, in orange. What are these p-values and why do they diverge so much?
Getting ready for ASHG25 here in Boston! Who's coming to town? As you know, I am fascinated by extreme GWAS p-values. Will we see anything beyond the current record holder, 10^-28538, for eye color. Interestingly, the p-values for all lead SNPs in the @gwascatalog.bsky.social follow a power law
Years ago I asked on Twitter why my heart rate would continue to climb even after I fixed the speed and incline on my treadmill. At the time, no one on Twitter could give me a satisfactory answer. But now GPT4o was able to answer it and suggested approaches to quantify the phenomenon.
This was the random page on the internet that set me down this rabbit hole: www.tomsguide.com/wellness/fit...
Slash your biological age by up to 16 years by doing this one thing during your daily walk — new study says
This is one hack that could increase your life expectancy
tomsguide.com
Eric Fauman (he/him)@ericfauman.bsky.social · last yr.This makes no sense to me. How does genetically predicted walking speed relate to biological aging (here as telomere length( except as some sort of biomarker of overall health? www.nature.com/articles/s42...
DeGETTE: Will you commit that neither you or anyone else at HHS will take retaliatory action against the brave scientists at NIH? Should be an easy answer bc it's illegal RFK Jr: I can commit that we are absolutely depoliticizing science at NIH for the first time D: I asked you a simple question
This makes no sense to me. How does genetically predicted walking speed relate to biological aging (here as telomere length( except as some sort of biomarker of overall health? www.nature.com/articles/s42...
Investigation of a UK biobank cohort reveals causal associations of self-reported walking pace with telomere length - Communications Biology
Mendelian randomisation analysis of the UK Biobank cohort, supported by analyses of accelerometer-measured activity intensity, reveals that genetically-determined walking pace is associated with longe...
nature.com
To add to your weekend reading, check out this nice report on the Genes & Health cohort from Hye In Kim, David van Heel and many many more: www.medrxiv.org/content/10.1...
Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity
Genes and Health (G&H) is a biomedical study of adult British-Pakistani and -Bangladeshi research volunteers enriched for autozygosity. We performed whole exome sequencing in 44,028 G&H participants, ...
medrxiv.org
Pirruccello #eshg2025 - “There is really one game in town right now that is @ukb UKB.” - no one else is producing image data in healthy heart at this scale. @ukbiobank.bsky.social Taking a deep-dive into image-derived phenotypes such as sphericity and cardiac age acceleration.
I was today years old when I realized that the Chromosome 2 fusion event which is unique to modern humans probably coincides with a possible population bottleneck event ~900kya. Could the one have caused the other? This is my adaptation of the published figure DOI: 10.1126/science.abq7487
Happy Caturday! These are Mage and Moxie, brothers to my avatar cat, Mojo.
Yes, Mojo, the all black cat, is my mews and inspiration. He's patiently waiting for the first pet association wide study, aka PAWS. Also, I'll be at Hinxton from April 28 to May 1st. Love to catch up with anyone who might be around then.
Gosia Trynka@gosiatrynka.bsky.social · last yr.A clever use of cat pictures in your thread, it kept me scrolling through to the end! Oh, and the use of @opentargets.org Platform wasn't too bad either ;)
We’re in U.S. District Court in Burlington, Vermont for Rümeysa Öztürk’s hearing. Today, the legal team is asking the judge to release her from detention. Ideas aren’t illegal. Rümeysa must be released.
The most famous heuristic in mapping gwas snps to genes is "it's usually the closest gene". But only slightly less well-known is this: consider the colocalized phenotypes. That is, a genetic variant seldom disrupts exactly one phenotype. What else does tugging on that thread do?
Looks like something kind of bad happened at 4 pm on Wednesday
It seems like the start to an April Fools joke but it's not! I'll be presenting at the BWH division of genetics SMGM seminar on April 1st! bwhgenetics.org/event/smgm-e... Looking forward to meeting folks there!
TODAY @ NOON ET in NYC: COLUMBIA PROFESSORS TO HOLD EMERGENCY VIGIL AGAINST ADMIN CONCESSIONS TO TRUMP ADMINISTRATION. Columbia gates at 116th & Amsterdam Ave (Not Broadway) • Hands Off Our Students, Faculty, & Research • Defend Science • Defend Academic Freedom • Defend Freedom of Speech
Imagine being in charge of a university and believing it was clever and strategic to sacrifice all your values, only to be tricked by the dumbest and most dishonest president in history.
Dr. Becca@docbecca.bsky.social · last yr.Now, Columbia leadership look like idiots and I don’t know how they regain the trust of their students and employees. The first university to stand up and refuse to negotiate with him and find a way to protect their community will be heroes.
Another interesting paper from my morning feed FLT1 and other candidate fetal haemoglobin modifying loci in sickle cell disease in African ancestries www.nature.com/articles/s41... Also finds BCL11A and MYB
FLT1 and other candidate fetal haemoglobin modifying loci in sickle cell disease in African ancestries - Nature Communications
Here, the authors perform a genome-wide association study of fetal haemoglobin (HbF) levels in Africans with sickle cell disease replicating known loci, identifing 14 candidate loci, and highlighting FLT1’s role in hypoxia-associated HbF induction.
nature.com
From my recommended articles feed this morning: MetQTLs in pigs identifies many of the same genes as in humans Merging metabolomics and genomics provides a catalog of genetic factors that influence molecular phenotypes in pigs linking relevant metabolic pathways link.springer.com/article/10.1...
Merging metabolomics and genomics provides a catalog of genetic factors that influence molecular phenotypes in pigs linking relevant metabolic pathways - Genetics Selection Evolution
Background Metabolomics opens novel avenues to study the basic biological mechanisms underlying complex traits, starting from characterization of metabolites. Metabolites and their levels in a bioflui...
link.springer.com
One bright spot in my inbox each day is google scholar's recommended articles which I think is extrapolated from my publications. This one caught my eye (in a good way) Genome-Wide Association Study for Resting Electrocardiogram in the Qatari Population www.ahajournals.org/doi/10.1161/...
Genome‐Wide Association Study for Resting Electrocardiogram in the Qatari Population Identifies 6 Novel Genes and Validates Novel Polygenic Risk Scores | Journal of the American Heart Association
ahajournals.org
This account seems to have posted every English word in alphabetical order but gave up at "impracticalness", which seems quite a propos. Not sure how "Fauman" made it into the dictionary though...
Over the past couple weeks I've shared 7 gwas visual pun images all leading up to today. Their individual solutions were: EPO, hemoglobin QPRT, pyroglutamylglutamine UMPS, orotate INS, glucose NOS1AP, QT interval OTOP, vertigo XDH, urate What is the solution to my overall puzzle?
A reminder. These were the first 4 clues in my scavenger hunt:
Slipping in this last one a few hours under the deadline. I call it rs140136459. Who's that causal gene, what's the trait and how does it relate to this image? And what is the secret message of the whole scavenger hunt?
