One of the most important questions in the history of biology, posed during an 1837 discussion of agricultural breeding in Brnö by Abbé Cyrill Napp, the man who recruited Mendel: "What is inherited and how?" (Transliteration, translation, reference and source in Alt)
Cahir O'Kane
@cahirokane.bsky.social
Genetics professor: axon ER & degeneration in Drosophila, spastic paraplegia. Rejoin EU. Not the GAA commentator. Speak only for myself. Gaeilge, Deutsch. Maghera (Co Derry), Cambridge (UK). https://www.gen.cam.ac.uk/research-groups/research-groups/okane
Really is! I have a recent patient with a VUS that I'm pretty convinced by - more understanding helps patients.
Probably the biggest limiting factor on building the new housing in and around Cambridge that we desperately need. At only 1.5C above preindustrial baseline.
Forecast rain for Cambridge for the next ten days. www.wxcharts.com?dataset=ecmw...
This piece illustrates Eric at his best: answer a fundamental question by using genetic tools to their limits! Well worth a read.
Reading between the lines: how maternal factor gradients determine the AP axis This Research Highlight showcases work by Eric Wieschaus. journals.biologists.com/dev/article/...
Brown University has a widget that tracks the cost of the Iran war to American consumers (as contrasted to whatever the Pentagon is spending). Per-household cost now exceeds $600. iranwarcost.watson.brown.edu
Delighted to share the launch of the Cambridge-led, £50m MRC Centre of Research Excellence in Mitochondrial Genome Therapeutics (CoRE-MitoGT). Over 14 years, we will unite international expertise to understand mtDNA disease & develop therapies targeting its root causes. www.ukri.org/news/mrc-fun...
MRC funds world-class research into fatal genetic diseases
The Medical Research Council (MRC) has invested £50 million into the study of mitochondrial diseases to improve treatments.
ukri.org
Cambridge needs more housing, and cheaper housing. But infrastructure like transportation and water are prerequisites. More here on current plans. £800 million doesn’t sound like a lot for the needs at hand.
Cambridge generates billions for the UK economy – but its success is putting housing, transport and even water supplies under pressure. The government's solution? A Development Corporation with sweeping planning powers. But who will hold it accountable? Stephen McNair reports.
I just can’t believe we’re seeing this sort of stuff from a sitting MP Just want to say to British Somalis that you are loved and I’m so, sorry this is happening.
Welcome!
We're delighted to welcome the 6th cohort of the Experience Postgrad Life Sciences programme to Cambridge this summer! Alongside their lab-based placements, students are taking part in skills workshops and social events with fellow summer placement students. 👉: www.exppg.lifesci.cam.ac.uk 🔗
Welcome to the CAMBRIAN FECAL REVOLUTION. We didn't name it the Cambrian fecal explosion for obvious reasons. I'm happy to share this paper on fecal matter and its role in Cambrian ecosystems. So if you want to read a really shitty paper (50 days free access): authors.elsevier.com/a/1nYg8cZ3X7...
A long-standing mystery in cholesterol biology: why is ER cholesterol sensing so switch-like rather than gradual? Our answer: cholesteryl ester phase separation in the ER membrane, which converts small lipid changes into a cooperative transcriptional response. www.biorxiv.org/content/10.6...
ER cholesteryl ester phase separation underlies switch-like cholesterol sensing
Cellular lipid homeostasis requires mechanisms that detect subtle changes in lipid abundance and trigger rapid, coordinated responses. The INSIG/SCAP/SREBP2 pathway provides a central feedback system ...
biorxiv.org
We hope that this guidance will help facilitate wider access to snRNA screening and the diagnosis of many more patients globally 💙 @renusyndrome.bsky.social #RNUopathies 6/7
In many ways snRNAs just don’t look or behave like the genes we are used to in ways that both hider and enhance variant interpretation: 1. They are non-coding genes, requiring different terminology/tools and variant detection methods (they are not captured by exome sequencing for e.g.). 2/7
📣 New preprint: “Guidance for clinical variant classification in genes for spliceosomal small nuclear RNAs” www.medrxiv.org/content/10.6... snRNAs are increasingly recognised as major players in rare disorders (RNUopathies), yet interpreting variants in these genes is a major challenge. 🧵 1/7
Guidance for clinical variant classification in genes for spliceosomal small nuclear RNAs
Background: Small nuclear RNAs (snRNAs) are RNA components of the major and minor spliceosomes that play a core role in splice-site recognition and control of the splicing process. Variants in genes t...
medrxiv.org
It's gratifying to see basic research we did over the years on the genetics of neural development (in mice) becoming clearly relevant to the genetics of neurodevelopmental disorders in humans, as here: bsky.app/profile/wiri...
ELFN1 Deficiency: the mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsy www.sciencedirect.com/science/arti...
Glad to see this. A lot of good colleagues and good science at the existing MRC mitochondrial unit. Hope that this will secure their future for another few years.
Well this is strangely backwards - the "fraud" of transforming a messy process in the lab into a neat, logical succession of experiments on paper is a core feature of science as a human activity (see Latour's Lab Life). A machine has no problem processing a raw data dump
Is the scientific paper still a fraud?
How we write scientific papers does not reflect how we do science, masking the human in the process by design. This Perspective invites us to consider the structure of the scientific paper, and the ne...
journals.plos.org
We can't pretend that we can carry on as if it's still the 1990's and we have lots of time. We've run out of time. Europe needs to change, to strengthen cooperation and improve decision making. In the EU the national veto must go, preferably before any new states become members. 3/n
Decades of complacancy have left Europe vulnerable. "Once in a century" weather events - droughts, heatwaves, floods - have become normal, and our infrastructure isn't ready for it. Yet many political leaders across Europe want to weaken and delay measures to end dependence on fosssil fuels. 🧵1/n
Fascist Russia knows Ukraine now lacks the ability to intercept ballistic missiles, as its allies failed to provide them from their own stocks, never scaled up production. Kyiv now pretty much defenseless- I didn’t hear anything that sounded like an interception in this latest attack.
Russian ballistic missile attack on Kyiv - 8 missiles reported incoming so far. Tsirkon hypersonic cruise missiles also said incoming. Explosions in Kyiv. More launches - now 10 missiles incoming.
Cooler than average days this summer have just completely died out, even in our hottest summers we do get odd day here and there interspersed. We are coming up 2 months since last daily max temperature was 1C below average in London on already warmer baseline. Freakishly warm period.
RFKJr claims Lyme disease was created by scientists,which is the closest he’s come to admitting that science exists. Meanwhile, Ötzi the Iceman, who died more than 5.3K years ago, had Lyme disease. Apparently prehistoric humans are part of the conspiracy. Get me off this timeline
I am so triggered by RJK Jr's comment about ICU's being empty during #COVID. I re-read what I wrote after one of the surges. How do others forget. The trauma was--and is--real.
I'm An ICU Doctor. I’m Haunted By What I’ve Seen During The Recent COVID-19 Surge.
“I can’t stop thinking about the 40-something man who told me, ‘I can’t die like this. I just got engaged and have a 6-month-old baby.’ I encouraged him to be positive, but that didn’t stop him from d...
huffpost.com
Just as bad money drives out good, so too with science. Lysenkoism is growing.
Breaking: The dumbing down of America's scientific infrastructure continues. Dr. Quay, a conspiracist w/ zero training in infectious disease is in "final vetting" to lead NIAID, Tony Fauci's former institute. www.politico.com/news/2026/08...
I am just about old enough to remember the notorious 'ring of steel' in Belfast city centre. To see it become itself this week, a European city exploding with culture, is joyful. More than that: its seminal. People now know what it can be, they won't accept less.
Italy, Germany and other countries that accused Spain of attracting migrants with its amnesty scheme have also quietly legalised the status of people who arrived irregularly in their own territory. ft.trib.al/XYObpMy
From the depth of the brain, this neuron is looking at you. (found in onlinelibrary.wiley.com/doi/abs/10.1...)
Tom Collett’s new book “Insects and How They Navigate Their World” is out and seemingly the pdf is free 👀 (for me anyway) link.springer.com/book/10.1007...
Insects and How They Navigate Their World
Discover how insects navigate using vision, memory and cues from nature. A clear, engaging look at ants, bees, and the remarkable abilities of tiny brains.
link.springer.com