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.
Joined July 2019
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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
Thrilled to share our latest discovery on a spliceosomal snRNA gene causing neurodevelopmental disorders: medrxiv.org/content/10.1101/… Thank you to everyone who contributed; it’s been a phenomenal effort to collaborate with clinicians and researchers for what would help many families!
SusanWhiteAuthor retweeted
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
Thrilled to share our latest discovery on a spliceosomal snRNA gene causing neurodevelopmental disorders: medrxiv.org/content/10.1101/… Thank you to everyone who contributed; it’s been a phenomenal effort to collaborate with clinicians and researchers for what would help many families!
SusanWhiteAuthor retweeted
Everyone watch this….from @Briggs
youtu.be/SAqIypjk-5A
SusanWhiteAuthor retweeted
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
How lovely! Thank you @GoodReading!
‘Cut’ by @SusanWhiteAuth1 is our October book club pick! @AffirmPress
Learn more about the book and get book club notes here: bit.ly/3Thn3py
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SusanWhiteAuthor retweeted
Could not stop reading. Thank you for telling our story @SusanWhiteAuth1 . Highly recommended
'A compelling account of a young surgeon’s feminist awakening.' @ArtsHub reviews CUT by Susan White @SusanWhiteAuth1, out now: artshub.com.au/news/reviews/…
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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
I’m excited for this @BADCrimeSydney!
The @BADCrimeSydney Festival is on at @statelibrarynsw 8-10 September! Join Susan White @SusanWhiteAuth1, Anna Downes @WhatAnnaWrote and Andy Muir @pandymedia for a weekend exploring what crime can tell us about humans today and in the past. Tickets here: badsydney.com/
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I wonder if Alexander Downer would like to enlighten us all by defining mansplaining #qanda
SusanWhiteAuthor retweeted
MCRI researchers have made a breakthrough discovery after identifying a new genetic #developmentaldisorder and uncovering its link to a tumor suppressor #gene. @TeamVCGS @Medicalrepublic @0SEMS0
Read more: medicalrepublic.com.au/new-n…
#raredisease #ScienceTwitter #medicalresearch
Fantastic to see this work out in the world, congrats @drstephbest. It’s a project I’m passionate about led by a super team. #equity #RareDisease
Where we live should not impact our access to #genetic #genomic testing for people with #RareDisease. Our systematic review out today highlights four challenges. rdcu.be/cFj73
@AusGenomics @AIHI_MQ @SusanWhiteAuth1 Felicity Collins, Kim An and Nada Mirkovic
SusanWhiteAuthor retweeted
Good public policy. Mandated masks will save lives. Doesn’t that matter NSW?
#BREAKING: Masks will be mandatory indoors in Victoria from 11:59pm tonight for people aged eight and up
ab.co/3EkumVe
SusanWhiteAuthor retweeted
Interesting fact.
The building opposite the #CFMMEU in #Melbourne is the HQ of the nursing & midwifery union, whose members work all day in FULL PPE to conduct Covid tests, to vaccinate, and care for sick & disabled.
Nurses get vaxxed ‘cos they’re big and tough, brave & smart.
SusanWhiteAuthor retweeted
Don’t believe a word of it - NSW is not following the Doherty National plan. It is blowing it up, writes Laura Tingle. abc.net.au/news/2021-09-11/c…
Feeling grateful for family and health. Thank you fellow healthcare workers! #SolidarityPancakes
Just finished The Glad Shout by @critrature and I’m already missing the beautiful prose. Its aching beauty will stay with me for some time
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We find ourselves in a terrible situation. A non-immune population and a virulent strain. We got here because of govts failing to: 1/vaccinate urgently and 2/recognise aerosol transmission and tighten quarantine. But we aren’t powerless. We can get vaccinated, wear a mask & vote.