CF Gene Therapy

YouTube video by Anna Phoebe ANNA PHOEBE - By The Sea (Official Audio)

www.youtube.com/watch?v=WJPb...

YouTube video by Julie Cooper Music - Composer VENUS in Sunlight Grey

Had to share two outstanding new-to-me works heard on BBC Radio 3 today: Julie Cooper's "VENUS in Sunlight Grey" (unmistakably Arvo Pärt influenced) and Anna Phoebe's "By The Sea" (mesmeric).

www.youtube.com/watch?v=2LEK...

and...

Role of RNA in genome folding: It's all about affinity In mammalian cells, RNA species make up ∼10% of chromatin by mass and play a structural role in the nucleus by acting as scaffolds and influencing gen…

New Publication:

Role of RNA in genome folding: It's all about affinity

@uoe-igc.bsky.social @drrafalczapiewski.bsky.social

www.sciencedirect.com/science/arti...

Violet webcap (Cortinarius violaceus) growing under gorse today near the Devil’s Punchbowl in Surrey. An absolute stunner of a mushroom and nationally rare - it’s always good to see these beauties.
#ukfungi

Prionologist Eric Minikel has published a thoughtful deep dive into the recent Uniqure press release about gene therapy for Huntington's disease. Well worth a read.
www.cureffi.org/2025/10/08/a...

Varicella-zoster virus reactivation and the risk of dementia - Nature Medicine Large-scale longitudinal health records reveal consistent association of varicella-zoster virus reactivation with dementia.

A new Nature Medicine study analyzing health records from >100 million people in the US offers compelling evidence that reactivation of varicella-zoster virus (VZV) ,the same virus that causes chickenpox and shingles may contribute to dementia risk.
www.nature.com/articles/s41...

My mum and dad's local pheasant, which is real, but looks like the product of the gathering of a talented craft club

Another look at my mum and dad's local pheasant

My mum and dad's local pheasant showing his more lighthearted side as he jokes about how much he looks like he's been felted

I absolutely refuse to believe that the pheasant who regularly visits my mum and dad’s garden is real and has not in fact been crocheted.

"the quickest way to get a collaborator to return edits on your manuscript is to write down their affiliation wrong" (ancient academic proverb)

This Month on HemeHub: SCD and Gene Therapy

Join us as we explore advances in the treatment of #sicklecelldisease through #genetherapy, featuring pivotal trials of Lyfgenia and Casgevy.

Stay tuned for our upcoming session featuring Dr. John Tisdale, Senior Investigator at the NHLBI.

A photo of Lindsey dressed in a blue jacket with a medieval urine wheel, holding a sign that reads: "taste the urine!"

Are you exhausted by the world? Come take refuge in my weird and wonderful corner of #Bluesky - where I post medical history content that will make you happy to live in 2025!

Medieval urine wheels! Opium toothpaste! Cemetery guns! I got it all. I love sharing my passion for this niche subject.

Genetic therapies for neurological diseases Often, gene therapy reviews concentrate upon specific therapeutic modalities – particularly either viral vector-mediated or a non-viral approach. Here, we draw together a comprehensive array of knowle...

Sorry all, been a bit away from social media - but very happy to show our latest, slightly massive review on neuro gene therapy. Some quite amazing co-authors who dwarf me in their amazingness. Here, as a pre-proof. Still some (quite a bit) of finessing pharmrev.aspetjournals.org/article/S003... 🧪

"The past is a foreign country; they do things differently there".

The Sea: "Hold my beer".

(H/T @matthewcobb.bsky.social )

Culture vultures.

Regenerative cell therapy marches into corneal blindness - Nature Biotechnology With a newly marketed product in Japan and 10 years of clinical data, regenerative cell therapies promise new options for patients facing a choice between invasive surgery or blindness.

Regenerative cell therapy marches into corneal blindness

Human endothelial cells (CHECs) can reduce corneal edema and opacity, are approved in Japan in 2023 for bullous keratopathy and in phase III in the US.

www.nature.com/articles/s41...

ChatGPT?

After 17 die in measles outbreak, Indonesia launches vaccination campaign Indonesian authorities have rolled out a vaccination campaign in response to an outbreak that has caused 17 deaths.

Without robust uptake of effective vaccines, children will continue to suffer and die needlessly. A large measles outbreak in Indonesia resulted in 2000 infections and 17 children dying. Mass vaccination campaign now underway.
This was avoidable!
www-pbs-org.cdn.ampproject.org/c/s/www.pbs....

👏🏻 Successful gene therapy for hereditary ATTR with polyneuropathy was achieved in a phase I study of 36 patients using a single intravenous infusion.

nej.md/46Qhur7

C. elegans is a real animal and we set out to understand how it comes to have its distinctive biogeography. Its ancestral center of diversity is in the higher elevation forests of Hawaii. Its closest relatives are spread across east Asia. Did they travel from Asia? [Preprint 🧵]

Obviously not a problem, but I wonder how much lower the years-to-cracking estimate would have to be reduced now that the password length is publically disclosed.

Delighted to see our paper studying the evolution of plasmids over the last 100 years, now out! Years of work by Adrian Cazares, also Nick Thomson @sangerinstitute.bsky.social - this version much improved over the preprint. Final version should be open access, apols.
Thread 1/n

And Liverpool begins and ends with them. You'llllllllllllllllllllll never walk alone.

You could call them ALLMs.

Huntington's disease successfully treated for first time One of the most devastating diseases finally has a treatment that can slow its progression and transform lives, tearful doctors tell BBC.

Promising news: expressing microRNA in brain cells to downregulate the amount of mutant huntingtin produced has the potential to significantly slow the development of Huntington's disease.

#genetherapy #RNA

www.bbc.co.uk/news/article...

How one of the world's rarest diseases left Sky's Deborah Haynes critically ill Sky's security and defence editor was left fighting for her life after falling ill with an ultra-rare condition. Today, on aHUS Awareness Day, Deborah Haynes shares her terrifying story - and how the ...

Incredible account of Deborah Haynes's episode of atypical haemolytic uraemic syndrome on the tiny isle of Sark and the logistics of getting her rapidly into recovery at London's University College Hospital.

#aHUS

news.sky.com/story/critic...

“Does paracetamol cause autism?
The short answer is: no. Genetics plays a major role in autism, but scientists are also investigating the potential role of environmental factors such as parental age, premature birth and prenatal exposure to drugs, environmental chemicals or infections.”

A serene Duddingston Loch in the autumn sunshine.

The land above the shoreline was bare when I was a boy. All of these trees have grown up since.
#Edinburgh
#ScottishEnvironment 🌱

Deters riders though.

Snow showing up on the Netweather radar now, on Beinn a' Bhuird and Ben Avon 🙂