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Posts by Veronica van Heyningen

Saturation editing of RNU4-2 reveals distinct dominant and recessive disorders - Nature Saturation genome editing of RNU4-2 identifies the functional and clinical impact of variants across the entire gene and delineates variants that cause a new recessive neurodevelopmental disorder distinct from ReNU syndrome.

Super excited that our two companion papers on saturation genome editing (SGE) of RNU4-2 and discovery of a novel recessive neurodevelopmental disorder (NDD) were published yesterday 🥳

SGE experiment: www.nature.com/articles/s41...
Recessive NDD characterisation: www.nature.com/articles/s41...

🧵

1 week ago 46 16 4 0

“Science lady” is a bit sexist and diminishing. She is a scientist, rightly excited by new data

2 weeks ago 1 0 1 0

@nhs.uk this may be for you

2 weeks ago 0 0 0 0

@england.nhs.uk Do not like the new NHS app at all. Quite difficult to get to look at details of person one cares for, where actually most of my traffic happens.

2 weeks ago 0 0 0 1

So many areas of our house need this after 12 years. Very hard for a hoarder to do this but middle-aged offspring think everything should be ditched.

4 weeks ago 0 0 1 1
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A ‘charmed’ new particle is discovered at world’s largest atom smasher The Large Hadron Collider just produced a never-before-seen particle made of charm and down quarks

The Large Hadron Collider just produced a never-before-seen particle made of charm and down quarks

1 month ago 290 63 16 13

I would like to know what concerned and horrified “ordinary” people, could do to change how the world is run today. There is an astonishing feeling of “emperor’s new clothes” scenario where everyone, including me, says and does nothing about the illegal and unethical actions of deranged leaders

1 month ago 2 0 0 0
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Science and Civilisation lecture @royalsociety.org : ERC President Maria Leptin gave a spirited and inspiring talk about maintaining academic freedom and knowledge progression. One essential component is maintenance of diversity of thought and people to keep new ideas flowing

1 month ago 1 0 0 0

@metoffice.gov.uk don’t like the new App at all. The old one was much better. For one thing it says that my location is Chelsea when I am in old Clapham. Nothing about Storms in Spain when I check Granada and Cordoba where I am bound soon

2 months ago 1 1 0 0

Just after finishing my (genetics) DPhil in Oxford I was invited to dine at Magdalen College by a colleague and sat next to AJP Taylor who insisted that I take snuff with him after dessert. My only encounter with him and snuff.

2 months ago 22 1 1 0
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Pleasing picture and interesting to compare with the work of Anna Ancher currently on show at Dulwich Picture Gallery www.dulwichpicturegallery.org.uk/whats-on/ann...

4 months ago 2 1 0 0

Connections
Puzzle #889
🟦🟦🟦🟦
🟩🟩🟩🟩
🟪🟨🟨🟨
🟨🟨🟨🟨
🟪🟪🟪🟪

Not often this works so well

5 months ago 0 0 0 0

What a fantastic icon, such focus and dedication. And she was an immigrant. So many countries have benefited from the fresh insights and out-of-the-box ideas of immigrants.

5 months ago 2 0 0 0

@bsgmofficial.bsky.social enjoyed an excellent morning of talks at #BSGM2025. Fantastic progress in medical genetics during my career. Feel as excited about the ideas and new findings as I was in the 1989s! So many more genetic components of diseases now understood. Therapy techniques now emerging

5 months ago 3 0 0 0

After this excellent meeting I am much clearer about why the question about newborn genome screening is not simply "Will it save some lives?" It would be great if it was, but that's not how it works.

5 months ago 5 2 1 0

Where exactly do you think new “free” (stolen?) knowledge comes from?

6 months ago 1 0 0 0

Sidney was a genius, though he could be hurtful and gratuitously rude in his remarks. Using C. Elegant as a model system was brilliant.

6 months ago 1 0 0 0

I recall Sidney Brenner visiting the Cambridge Genetics Department in 1967/68?on the Mill Road, and telling my Part2 class (9 men and me) that he was going to use this small worm to understand neural development. Fabulous progress from an idea to half a century of achievement.

6 months ago 5 1 1 0
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It was a very good discussion. Thanks to BBC Sounds I listened while cooking dinner

6 months ago 1 0 0 0
Prof Rebecca Fitzgerald announced as new Head of the Department of Oncology | Early Cancer Institute We are pleased to announce that Professor Rebecca Fitzgerald has been appointed as the new Head of the Department of Oncology at the University of Cambridge. Rebecca will officially take up her role o...

www.earlycancer.cam.ac.uk/news/prof-re...

7 months ago 2 1 0 0
The iconic Waterhouse building in red brick

The iconic Waterhouse building in red brick

The library now has armchairs with cushions depicting books

The library now has armchairs with cushions depicting books

@girtoncollege.bsky.social Have just spent a wonderful day at Girton celebrating 60 years since first arriving there. So many memories come flooding back. Great to hear what interesting and useful lives we have all led.

6 months ago 1 0 0 0
Annual Conference 2025 – Adelphi Genetics Forum

Come to a great free @adelphigenetics.bsky.social meeting about complexities of population screening, @royalsociety.org Thu 23 October. Register adelphigenetics.org/events/annua...

7 months ago 2 3 1 0
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Population Genomic Screening - Exploring its Complexities Join us to explore the complexities of Population Genomic Screening in person on Thursday, 23 October, 2025

Great speakers, important topics Can also register through Eventbrite www.eventbrite.com/e/population...

7 months ago 0 0 0 0
Annual Conference 2025 – Adelphi Genetics Forum

Come to a great free @adelphigenetics.bsky.social meeting about complexities of population screening, @royalsociety.org Thu 23 October. Register adelphigenetics.org/events/annua...

7 months ago 2 3 1 0

Wordle 1,522 2/6

🟨⬜⬜🟨🟩
🟩🟩🟩🟩🟩

WordleBot
Skill 99/99
Luck 99/99

Surprisingly cheering

8 months ago 1 0 0 0
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Wordle 1,509 2/6

🟩🟩🟨⬜⬜
🟩🟩🟩🟩🟩

WordleBot
Skill 99/99
Luck 99/99

Skill and luck. What more can I ask for?

8 months ago 3 0 0 0

A great step for mankind!

8 months ago 3 0 0 0
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Our Faraday Discovery Fellowships Accelerated International Route is now open for applications, providing a fast-track option for attracting mid-career researchers looking to relocate to the UK from overseas, providing up to £4m over a five-year period.

#RSGrants

8 months ago 10 13 2 1
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Faraday Discovery Fellowships Accelerated International Route | Royal Society The Faraday Discovery Fellowships Accelerated International Route provides a fast-track option for attracting mid-career researchers looking to relocate to the UK from overseas, providing up to £4m ov...

Find out more about the scheme on our website: royalsociety.org/grants/farad...

8 months ago 1 1 0 0