Discover and read the best of Twitter Threads about #humangenetics
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Here is our Introduction to the issue of #HumanGenetics focused on Infectious Diseases link.springer.com/article/10.100… A big thank you to the 29 colleagues who wrote superb reviews that cover the entire field. They form a solid base camp for the genetic ascent of COVID-19 😀
Special thanks to Otto Haller, Philippe Gros, @QuintanaMurci, @LB_Barreiro, @esiborghe, @BogunovicLab, @atelentia, @ItanLab, @jacquesfellay, @KuChengLung, @DoffingerR, @BrodinPetter, Tom Williams, Jenefer Blackwell, Alain Dessein, @easchurr, @_jmanry_, @AurelieCobat, Paul McLaren
@JouanguyE, @stutangye, Jacques Le Pendu, @ShenYingZhang1, @BeziatV, @tutu_ZQ, Helen Su, @SanchoShimizu, Mike Levin, @Boisson_Bebo, @BustamanteJaci1, @BoissonDupuis, and @anne_puel
Amazing human genetics story on a gain-of-function JAK1 mutation biorxiv.org/content/10.110…. Lots of interesting immunology and genetics in here, and a “win” for precision medicine with JAK inhibitor treating the patient’s symptoms! @BogunovicLab #Immunology #HumanGenetics
As with many human genetics stories, cool new biology - why does JAK1 GOF drive CD56hi NK cells? How do new STAT phosphorylation patterns emerge with JAK1 GOF? What’s the mechanism of JAK1/JAK2 cross-talk resulting in trans-activation?
There’s also a new (to me) genetics phenomenon - biased allelic expression of JAK1 despite overall mosaicism and heterozygosity. From a heterozygote patient, cells were either WT or mutant, no heterozygous cells were found - and this was true of other JAK1 allelic variants.
