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NHGRI’s Clinical Director @BenjaminSolomo2 first fell in love with genetics and genomics in the 7th grade. In medical school, he admired geneticists who were determined to help diagnose patients.
@genome_gov@RenMontooth @spencercodes Also, for someone just getting into the field (including students without a lot of coding background), what are the best resources to learn more?
@genome_gov@RenMontooth (Breaking my Twitter hiatus for this - didn't take long!)
@spencercodes, with all the big, exciting things going on in AI these days, which models and approached do you think are going to have the biggest impact in genetics and genomics in the future? #MLinGenomics
@acedens Yes - I'm still pretty dumb about Mastodon (and most other things, come to think of it), but here's the link: https://t.co/wpWIhRO2pm
From @Psy_Fer_
"Unless things change dramatically, the millions of people #CRISPR could save will never benefit from it. We must, and we can, build a world with #CRISPR for all."
#healthjustice@igisci@nytimes
https://t.co/7VjfFdkLzJ
This was a very fun project to work on: I asked a number of colleagues to discuss their thoughts (and hopes) regarding the way the field of dysmorphology may evolve. @acedens@KrawitzPeter@shahida_moosa
https://t.co/JZIhQw5z2R
.@Genome_gov’s Cynthia Tifft runs a gene therapy clinical trial for children with GM1 gangliosidosis. Fewer than 5% of rare disorders have effective treatments, but after working with her young patient Jojo, Cynthia’s team has treated 10 more children with this condition.
Q425
Out of 100 people with pathogenic variants in a certain gene, 50 develop heart disease; out of 100 people without pathogenic variants in that gene, 10 develop heart disease. What is the relative risk of heart disease in people with pathogenic variants in that gene?
Super cool article by @genome_gov colleagues on the genetics of dog behavior (one fascinating thing they saw: "a sheepdog-associated enrichment for interrelated axon guidance functions")
https://t.co/mdaK3Lm4tZ
@MuinJKhoury@GIMJournal Very nice and informative article. I heartily agree with the sentiment that medical geneticists should be involved in diagnostics as well as management, and should especially focus on the latter in the present and future.
A good joke my son told me (he may have come up with this himself in bio class):
What did chlorophyll call their imaginary friend?
A pigment of their imagination.
Here's a DALL-E 2 picture we made of "an oil painting of a fancy chloroplast in a suit"