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Lizzie Wall

@wall-e2.bsky.social
66 followers 160 following 10 posts

Clinical geneticist

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Reposted by Lizzie Wall
MwahahahahahadScientist @mads100tist.bsky.social · 17/09/2026
You know what's also interactive? Reading the paper. Talk to your colleagues about the paper you just read. Tell them why you loved it. Tell them why you hated it. And even better: invite the authors to talk about their paper 🧪
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Lizzie Wall @wall-e2.bsky.social · 30/08/2026
Tempted to share this article with patients who wonder why we haven’t found a diagnosis with Whole genome sequencing …also, look at the illustrations!
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Reposted by Lizzie Wall
Philip Ball @philipcball.bsky.social · 14/08/2026
As I keep saying, this should read "Musk FRS".
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John Travis @john-travis.bsky.social · 04/08/2026
16 months after a young girl died in a gene-editing trial, the study's entry in clinicaltrial. gov has finally been updated to acknowledge the death. The move comes after @science.org and @retractionwatch.com revealed the fatality 1/ science.org/content/arti...
clinicaltrials.gov
ClinicalTrials.gov
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Retraction Watch @retractionwatch.com · 30/07/2026
Nature is investigating concerns surrounding a paper at the heart of a news story we published with @science.org last week on the death of a 6-year-old girl following a gene therapy treatment in China.
retractionwatch.com
Journal, university investigations launched into gene-editing death following Science-Retraction Watch reporting
Nature is investigating concerns surrounding a paper at the heart of a news story published last week on the death of a 6-year-old girl following a gene therapy treatment in China. The paper, publi…
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Retraction Watch @retractionwatch.com · 27/07/2026
Chinese university launches probe into girl’s gene-editing death days after investigation by @retractionwatch.com and @science.org investigation revealed the fatality.
science.org
Chinese university launches probe into girl’s gene-editing death
More than a year after failed clinical trial, Shanghai Jiao Tong University School of Medicine promises “serious action”
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Retraction Watch @retractionwatch.com · 23/07/2026
A couple paid more than $800,000 for a gene-editing therapy for their daughter. She died, and it wasn’t made public. An exclusive from us and @science.org.
science.org
Exclusive: Death of girl in Chinese gene-editing trial was never made public
Parents want accountability after study went disastrously wrong, Science and Retraction Watch investigation reveals
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Adam Tranter @adamtranter.bsky.social · 29/06/2026
Humans should not be forced off pavements by delivery robots, but that's exactly what's happening. The people who pay the price are those with the least room to give it up.
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Better Streets for Birmingham @betterstreetsforbirmingham.org · 08/04/2026
🗳️ Later this week, Birmingham's local elections will hot up further as candidates are published. Here's a thread of our election coverage so far, what you can do now to put safer streets and better transport at the top of candidates' agendas, and what to expect from us over the coming weeks. 🧵
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Lord Sedge of Sedgley @lordsedge.bsky.social · 21/03/2026
It's #WorldDownSyndromeDay If you're a medic, you can find excellent resources here: @dsmig.bsky.social For folks with Down Syndrome, families, professionals... EVERYONE, there are great resources here: Down Syndrome Association @dsa-uk.bsky.social Downs Syndrome Scotland - dsscotland.org.uk
dsscotland.org.uk
Down's Syndrome Scotland | Home
Welcome to Down’s Syndrome Scotland! Supporting people with Down’s syndrome and their families, and...
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The Dispatch @birminghamdispatch.bsky.social · 14/03/2026
Welcome to The Dispatch’s first ever good news edition: Click the link below to read more🔗
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Lizzie Wall @wall-e2.bsky.social · 17/02/2026
And yet… 🤦‍♀️ bsky.app/profile/meli...
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Carbon Brief @carbonbrief.org · 19/01/2026
NEW – Analysis: UK newspaper editorial opposition to climate action overtakes support for first time | @joshgabbatiss.bsky.social @sylviahayes.bsky.social Read here: buff.ly/eAPkvkx
Number of UK newspaper editorials arguing for more (blue) and less (red) climate action, 2011-2025. Some editorials also present a “balanced” view, which is categorised as advocating for neither “more” nor “less” climate action. These editorials are not represented in this chart. Source: Carbon Brief analysis.
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Lizzie Wall @wall-e2.bsky.social · 29/11/2025
One of the world’s major megacities is about to completely run out of water. Why isn’t this a bigger news story?!
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Gaia Vince @wanderinggaia.bsky.social · 25/11/2025
The BBC has so thoroughly culled its science team that the national broadcaster is now using journalists from other corporations as correspondents on its flagship Inside Science show, rather than the wealth of specialists I was able to draw from. What a sad loss
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Lizzie Wall @wall-e2.bsky.social · 14/11/2025
~$2.5bn in profits, ~35% profit margin
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Roland Pease @peaseroland.bsky.social · 30/10/2025
For 61 years the #BBCWorldService has been broadcasting the latest in science via its weekly Science in Action programme. That dies in the next half hour, with this final edition, reflecting on the fall in trust in expertise driven by malign interests over recent years.
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Michael E. Mann @michaelemann.bsky.social · 30/10/2025
For years Roland has worked tirelessly to inform BBC listeners about societally-relevant science. This is exactly the WRONG time, BBC, to be letting him go! 😠
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alexblakes.bsky.social @alexblakes.bsky.social · 18/08/2025
The headlines? 1) Variants on both copies of #RNU4-2 cause a recessive neurodevelopmental disorder with prominent speech delay 2) One of the hallmarks is distinct white matter changes on MRI 3) It is clinically and genetically distinct from #ReNU syndrome www.medrxiv.org/content/10.1...
medrxiv.org
Biallelic variants in the non-coding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes
Genetic variants in RNU4-2, which encodes U4, a key non-coding small nuclear RNA (snRNA) component of the major spliceosome, were recently shown to cause a prevalent neurodevelopmental disorder (NDD) ...
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