Veera Rajagopal @doctorveera
MBBS, MD, PhD | GWAS storyteller | Scientist at Regeneron | Human genetics & drug discovery in Neuroscience & Psychiatry | He/Him gwasstories.com New York, USA Joined April 2015-
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Love this Seth Godin's answer to Tim Ferris on what makes a great blog post "the purpose is to tell people something, that they already sort of know, in a way that they would be grateful for the chance to forward to other people" youtube.com/clip/UgkxTJTpt…
Labcorp is the winning bidder to acquire Invitae, which filed bankruptcy early this year. Sad to see this fate for a genetics diagnostic company. prnewswire.com/news-releases/…
Great paper on the somatic CAG repeat expansions in blood and brain tissue of different ataxia subtypes. Not all ataxia subtypes show repeat expansions, suggesting the expansion is not repeat sequence-specific but gene-specific (ATXN7 in SCA7, HTT in Huntington's). Likewise, not…
First in-human trial of an mRNA therapy to treat an inborn error of metabolism (propionic acidemia). Not just one, but two gene products were delivered to hepatocytes (PCCA and PCCB encoding α and β subunits of the deficient protein). Amazing! Koeberl et al. Nature…
Studies like this consistently find extremely high heritability of autism. Will this overwhelming evidence that it is a *genetic condition* receive any coverage? Of course not, because we're distracted by microbiome nonsense...
Studies like this consistently find extremely high heritability of autism. Will this overwhelming evidence that it is a *genetic condition* receive any coverage? Of course not, because we're distracted by microbiome nonsense...
One subcutaneous injection of monoclonal antibody (L9LS) against malarial parasite protein provided 70% protection against malarial infection (77% against clinical malaria) over a period of six months. Amazing! Kayentao et al. NEJM nejm.org/doi/full/10.10…
"... on average, only half of the total [twin-based] heritability was covered by SNP-h2, and the other half, representing one-fifth of total protein phenotypic variability, remains missing." Cool paper!
"... on average, only half of the total [twin-based] heritability was covered by SNP-h2, and the other half, representing one-fifth of total protein phenotypic variability, remains missing." Cool paper! https://t.co/roySxA9uWX
Love this plot showing the association of polygenic score of lung cancer with lung cancer. Once you condition on smoking, the effect size becomes similar across current, former and never-smokers. Gormon et al. medRxiv medrxiv.org/content/10.110…
Based on a register-based analysis of ~1 million individuals born in Sweden between 1985 and 1998, the family-based heritability of autism was 87% in males and 75.7% in females. "These findings suggest that ... (heritability) differs between males and females, indicating that…
If you don't follow @doctorveera or subscribe to his substack, I can't recommend highly enough! He puts out incredible stories in genetics / precision medicine, like this one out today: open.substack.com/pub/gwasstorie…
Glad that our sequence model of promoters in human genome is now published in @ScienceMagazine. Check out the paper for a deep dive into the sequence basis of transcription initiation at the basepair level: science.org/doi/10.1126/sc…
@wllmsb @HelmsleyTrust @MAndersonUCSF @athattersley @doctorveera Just to highlight this was an amazing collaborative piece of work led by @mbjohnson_ @MasatoOgishi @ClaraDoVi , supported by multiple funders. @wllmsb approached me 10 years ago to discuss studying T1D with these rare cases, and it has been a wonderful journey to this point.
@doctorveera In 2008 SLC2A9 was independently shown to be associated with uric acid levels in both humans (GWAS) & Dalmatian dogs (missense mutation found by linkage in autosomal recessive HYPERuricemia; DOI 10.1371/journal.pgen.1000246). Hum SLC22A12 HYPOuricemia is called "Dalmatian" RHUC.
Abdel Abdellaoui @dr_appie
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Nature Genetics @NatureGenet
128K Followers 2K Following Nature Genetics is a monthly journal publishing high impact research in genetics and genomics. RT/like=interesting/relevant, not necessarily endorsement.
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Pradeep Natarajan @pnatarajanmd
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25K Followers 4K Following Dissecting disease mechanism. Single-cell, Epigenomics, Regulatory Genomics, Disease Genetics, Brain, Cancer, Metabolism. @MIT Prof, @MIT_CSAIL, @BroadInstitute
Ewan Birney @ewanbirney
50K Followers 2K Following Deputy Director General of EMBL, Director of EMBL-EBI. I have an insatiable love of biology. @[email protected]. I also work with ONT, Dovetail + GeL.
Andrea ganna @andganna
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81K Followers 447 Following Funding research at the forefront of genomics to improve human health. Formerly the Human Genome Project. https://t.co/4hdQRFkFNU
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4K Followers 268 Following Associate professor at the Hebrew University. Statistical, population, and medical genetics. Preimplantation genetic testing. Views my own. https://t.co/hlwDnVcr9O
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GWAS_lit @GWAS_lit
7K Followers 183 Following Pre-publication manuscripts for genome-wide association studies. By @wpgilks Also see @genomic_pred and @Mendelian_lit #GWAS #genetics #genomics #medicine
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Nature Genetics @NatureGenet
128K Followers 2K Following Nature Genetics is a monthly journal publishing high impact research in genetics and genomics. RT/like=interesting/relevant, not necessarily endorsement.
Aaron Quinlan @aaronquinlan
17K Followers 1K Following Genome mutation, software for genomic discovery. https://t.co/6GKjALLFfk Co-director, DELPHI Data Science Init.: https://t.co/8uWRcIzWRr
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30K Followers 891 Following Physicist, researcher and teacher...at Indian Institute of Science. Views are my own. RTs are not necessarily endorsement.
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15K Followers 641 Following National Society of Genetic Counselors (NSGC) is the leading voice, authority and advocate for the genetic counseling profession. RT does not equal endorsement.
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7K Followers 840 Following GeneDx is paving the way for faster diagnoses and more precise care plans through genomic and clinical insights.
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71 Followers 104 Following Genetics, Genomics, Rare genomic variants Research associate / CHU Sainte-Justine / Université de Montréal
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Helmsley Charitable T.. @HelmsleyTrust
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211 Followers 470 Following Physician Scientist - cancer and autoimmunity. PhD Student @CSHL, Janowitz/Furukawa Lab. Previously: Doctor @NHSuk, @UniofOxford med, @Cambridge_Uni undergrad.
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ashish (@acgt01@genom.. @acgt01
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Alex @notcomplex_
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175 Followers 220 Following Sr Director @RelationRx. pushing genomics deep learning to drug discovery inflection points. Oxford DPhil. Once a computer scientist. Avid cyclist.
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Kartik Chundru @kartikchundru
236 Followers 466 Following Postdoc at @UniofExeter. Former postdoc @sangerinstitute. Working on the integration of 'omics data into burden testing frameworks. @chundru.bsky.social
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François Lecoquierre @francois_leco
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Ideas Matter @IdeasFellows
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Elissa Welle, PhD @ElissaWelle
817 Followers 1K Following neuroscience 🧠 reporter for @_TheTransmitter | bylines in @reuters @nature @chronicle @statnews @freep | ex-neural engineer | tips? [email protected]
Today, we report that chronic intermittent fasting impairs β-cell maturation and function in adolescent mice. Using scRNA-seq of islets we define a β-cell maturation score, which was linked to T1D in humans. 👇 biorxiv.org/content/10.110…
Required reading for anyone working in (gen)omics
@doctorveera In XDP, cerebellum showed the lowest expansion among brain tissues and cortical regions had the highest.
At last, a totally realistic and easily achievable body expectation for men.
Great knows great. Yes, this is *the* @davidrliu. He had developed a neural network model of visual attention, which (unknown to him) was similar to something Hinton was working on. He was only 16 at the time. Did they meet? I don’t know yet.
@matthewcobb Wow—how did you find this? Yes, I did meet Francis Crick (and Terry Sejnowski) to discuss a (primitive back-propagation) neural network model of visual processing I built on an old Mac when I was a high school student. It was kind of them to meet with a curious kid. We had tea.
@doctorveera I watched your YouTube video on non coding variants 👏👏👏
@doctorveera I guess Q2W is a start. I last left it at 48-72 hours at best.
This paper is highly relevant to $PRME's vision of treating repeat expansion diseases.
Great paper on the somatic CAG repeat expansions in blood and brain tissue of different ataxia subtypes. Not all ataxia subtypes show repeat expansions, suggesting the expansion is not repeat sequence-specific but gene-specific (ATXN7 in SCA7, HTT in Huntington's). Likewise, not…
@doctorveera Was just commenting, it’s not just diagnostics,
@GenomicsCow Pharma trends are like Hemingway’s 'How did you go bankrupt? Two ways. Gradually, then suddenly.' 2022, 119 layoffs 2023, 187 Q1 ‘24, 57 Fierce Biotech Layoff Tracker: 4/23/24. Bristol-Myers Squibb cutting costs by $1.5 billion by end of 2025, laying off about 2,200 employees
Thanks for sharing our preprint @doctorveera!
"... on average, only half of the total [twin-based] heritability was covered by SNP-h2, and the other half, representing one-fifth of total protein phenotypic variability, remains missing." Cool paper!
Studies like this consistently find extremely high heritability of autism. Will this overwhelming evidence that it is a *genetic condition* receive any coverage? Of course not, because we're distracted by microbiome nonsense...
Based on a register-based analysis of ~1 million individuals born in Sweden between 1985 and 1998, the family-based heritability of autism was 87% in males and 75.7% in females. "These findings suggest that ... (heritability) differs between males and females, indicating that…
Oh my goodness. My book has been accessed 100,000 times since it was released 18 months ago 😭 I never expected "Managing Your Mental Health During Your PhD" to resonate with so many link.springer.com/book/10.1007/9…
Online now! The beauty of brevity dlvr.it/T64WJH
Effects of gene dosage on cognitive ability: A function-based association study across brain and non-brain processes biorxiv.org/content/10.110…
New preprint by Gabin Drouard, me, @MiinaOllikainen, @zhili_zheng, Xiaoling Wang, @samrip, @MattiPirinen & Jaakko Kaprio investigates the heritability (h2) of 2321 Olink plasma proteins in 56-70 year old Finnish twins (N=401) and compares estimates to published SNP-h2 (UKB). 1/3
Twin study provides heritability estimates for 2,321 plasma proteins and assesses missing SNP heritability medrxiv.org/cgi/content/sh… #medRxiv
Very excited to share our latest work, out today in @ScienceMagazine, on the serendipitous finding that vitamin D ☀️ regulates the gut microbiome to promote cancer immunity🦠 science.org/doi/10.1126/sc… 🧵👇 @ReiseSousaLab @TheCrick
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