Benjamin Solomon
@BenjaminSolomo2
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It’s #GivingTuesday! I’ve joined the movement; will you join me? All gifts to Geisel School of Medicine will be DOUBLED -- that means your support will go twice as far to help transform healthcare education and support future physicians. Give online at
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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.
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"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
nytimes.com
Revolutionized medicine may be at hand, but barriers remain.
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Also tagging @CedrikNT, who wrote a great section on “The Future of Dysmorphology: A Global Perspective”
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.@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.
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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
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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
cell.com
A framework for understanding the relationships between canine breeds allows for the identification of genetic drivers of the behaviors that define them.
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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"
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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?
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What’s heavier: a protein or the mRNA that encodes it?
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Uh oh, your Spotify Wrapped doesn’t look great. Let’s try to do better next year so our opossum stops getting angry. Learn more about the importance of diversity in genomic studies in our fact sheet: https://t.co/2R1F8bFbCi
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Q424 Answer: Karyotype https://t.co/lYIHBKUD0X
https://t.co/TUDrS4pn08
https://t.co/4VfmVJAPgY
https://t.co/C2id8DKmUi
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🤔 are saliva or blood samples better for microarray? Our latest @ejhg_journal: we compare results from 270 children who had both: 20 extra diagnoses using saliva due to mosaic CNVs 🔍🧬 Congrats @TeamVCGS @DavidFr87880457 @wall_meaghan @GenomeSeb 👏 https://t.co/i6ctM9iSSC
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For those having a hard time, the red circle indicates an important area of the x-ray...
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Q424 A female child with short stature is seen by her physician, who notices a heart murmur on examination. A chest x-ray is shown below (see next tweet). What initial test would likely be the most logical to order?
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Q423 (and bonus) answer: Tryptophan (bonus: Methionine) https://t.co/IHUbLmX3LB
https://t.co/wTfHs3BIuF
https://t.co/BHsL8xoqeR
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I hope everyone had plenty of tryptophan for Thanksgiving! As a bonus, can you name the only OTHER amino acid with a unique codon? Hint: if you get this right, you'll be off to a good start.
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