SusanWhiteAuthor retweetledi
SusanWhiteAuthor
424 posts
SusanWhiteAuthor
@SusanWhiteAuth1
Author of CUT and TAKE THE SHOT by Affirm Press. Genetics doctor, Saints tragic and owner of a gorgeous neurotic dog (Snowy). Views my own.
Katılım Temmuz 2019
666 Takip Edilen396 Takipçiler
Amazing #RareDisease discovery by our UK colleagues which gave us 4 diagnoses from our 130 genome-sequenced patients in a single day! Answers for families and tangible steps towards best care. Brilliant collaboration @AnneOtation @nickywhiffin @dgmacarthur @SimonsCas @mgds26
Yuyang Chen@quenchentin
Thrilled to share our latest discovery on a spliceosomal snRNA gene causing neurodevelopmental disorders: medrxiv.org/content/10.110… Thank you to everyone who contributed; it’s been a phenomenal effort to collaborate with clinicians and researchers for what would help many families!
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SusanWhiteAuthor retweetledi
Would you believe me if I told you that a single variant in a non-coding RNA explains ~0.5% of all undiagnosed individuals with neurodevelopmental disorders (NDD) in @GenomicsEngland ???
I didn’t initially either, but here is the story of RNU4-2 🧵1/9
Yuyang Chen@quenchentin
Thrilled to share our latest discovery on a spliceosomal snRNA gene causing neurodevelopmental disorders: medrxiv.org/content/10.110… Thank you to everyone who contributed; it’s been a phenomenal effort to collaborate with clinicians and researchers for what would help many families!
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SusanWhiteAuthor retweetledi
SusanWhiteAuthor retweetledi
People from across Australia are coming together to say YES!
Casting your vote this week and looking for more information on the Voice? Head to yes23.com.au/vote_yes to read why this is a once-in-a-generation chance for meaningful change.
#yes23
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@kmpanthagani I love this advice and as a geneticist 20 years into my career it rings very true even now! ❤️
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10. And finally, the most important piece of advice:
You deserve to be here.
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It’s slow right now in the ICU, so here it is… the thread you’ve never seen before….
Tips for new interns.
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@DGlaucomflecken I couldn’t do my day job (medical geneticist) without my other passion (writing fiction). Fiction fills my bucket, and medicine needs workers with a full bucket!
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Not sure the reason behind this but it’s part of the greater trend in medicine of stomping out creativity. Medicine values standardization/protocols/templates. Couple that with 70+ hr wks & we lose the time & energy for creative pursuits. We need to nurture creativity in medicine
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@MST_Writes Enjoyed the rant! And here’s to anything which preserves mental health and allows time for measured career choices for a cohort of young people who have had the pandemic mess with their idea of a future. Kudos to your daughter
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... most undergrad courses have a 40-50% drop out rate in the first year. Which only reinforces my new understanding that blindly pushing high school kids towards undergrad degrees is good for no-one.
Here endeth the rant. 6/6
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My daughter is in Year 12. A low-stress version of Year 12 because she decided to go 'unscored'. That is, no ATAR score and therefore no exams. She still has to do the work, and pass, but that's it. After my initial shock, I've come to love her decision. Here's why ... 1/6
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@kidney_tom So true - the power of a positive word or two! Good to be reminded 😊
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@duskywhalerkate @JaneCaro @andyweir @ThrityUmrigar @NeelaJan @BeckyMana @bruceholsinger Thank you so much, what a cracking list!!
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Giving a talk on Tuesday. Does anyone know of female physicians who have published fiction (a novel or short story collection)? So far I’ve got Perri Klass. Thanks for any leads!
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Very cool book mail thanks to a comp run by @SistersinCrimeA and @AffirmPress. Looking forward to reading, @SusanWhiteAuth1 🤩
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What a fantastic read, thank you @SusanWhiteAuth1 - devoured it in 24 hours, could not put it down!
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Could not stop reading. Thank you for telling our story @SusanWhiteAuth1 . Highly recommended
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@ShayleeIles Oh thank you for reading and I’m glad it resonated for you! Your tweet has made my day 😍
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SusanWhiteAuthor retweetledi
What happens when those with a duty of care misuse their power? @McFarlaneLyn, @KayteNunn and @SusanWhiteAuth1 have written gripping crime stories about medical systems failing patients and staff; see them in conversation with Margaret Hickey on 10 Sept! badsydney.com
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