greally.bsky.social
Using genomic information to improve medicine
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David Beck reminiscing about his time in the @einsteinmededu.bsky.social SURP program working with Ari Melnick, setting him in his subsequent course as a physician-scientist
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TAG just got 'postponed indefinitely' according to a colleague here
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Probably complementary? But the idea of attending a symposium where the speakers say nice things about audience members does sound pleasant.
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Graffiti on Avenue B in #NYC
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We. Should we. You know what I mean.
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Did they get away without doing any sequencing (as it appears from reading this on my phone between patients)? If so, this study is probably uninterpretable. The likelihood is that the paralogous regions are diverging their transcription factor binding, DNA methylation a secondary effect.
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Looking forward to digging into this.
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That’s a beautiful celebration of loss and sadness
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Sorry Josie, that's awful.
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My book on “Epigenetics” is on its way to the publisher. 117K words, 796 references, 38 figures, mostly written during my holidays over the last several years, it is my attempt to make my chosen field of research more rigorous. Look out for it in 2025.
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If we're going to edit genes, we have so many major effect, high penetrance variants causing devastating rare diseases.
PRS studies, while interesting in terms of understanding disease architecture, are not defining any priority for editing.
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And a response here from @shaicarmi.bsky.social @wiringthebrain.bsky.social @hankgreely.bsky.social www.nature.com/articles/d41...
Just seen, but will be interesting to juxtapose.
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If you can change disease risks substantially by editing only a few variants...
...how polygenic were these diseases to start with?
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Nollaig shona duit féin Ted! And to Mary and the family.
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You’ll be wanting to listen to this now
youtu.be/E8gmARGvPlI
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5/ The cohorts studied are substantially more 'White' than the US population as a whole. I can't find anywhere in the study that looked into the contribution of race/ethnicity to the outcomes observed.
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4/ So when I see a result like this, my question is whether it reflects in part the contributions of different continental ancestries.
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It’s a #Bronx thing
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The successful candidate will be offered growth opportunities that can include involvement with the New York Center for Rare Diseases (NYCRD). @newyorkcrd.bsky.social