Lizzie Wall
@wall-e2.bsky.social
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Clinical geneticist
reposted by
Lizzie Wall
Better Streets for Birmingham
about 1 month ago
🗳️ 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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Lizzie Wall
Lord Sedge of Sedgley
2 months ago
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
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Down's Syndrome Scotland | Home
Welcome to Down’s Syndrome Scotland! Supporting people with Down’s syndrome and their families, and...
https://dsscotland.org.uk/
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Lizzie Wall
The Dispatch
2 months ago
Welcome to The Dispatch’s first ever good news edition: Click the link below to read more🔗
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And yet… 🤦♀️
bsky.app/profile/meli...
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3 months ago
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Lizzie Wall
Carbon Brief
4 months ago
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
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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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6 months ago
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Gaia Vince
6 months ago
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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~$2.5bn in profits, ~35% profit margin
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6 months ago
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Roland Pease
7 months ago
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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Lizzie Wall
Michael E. Mann
7 months ago
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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reposted by
Lizzie Wall
9 months ago
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...
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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) ...
https://www.medrxiv.org/content/10.1101/2025.08.13.25333306v1
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