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

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)

Hr. Prälat Cyrill Napp reaffumirt in ge-
drängter Kürze den Gang der bisherigen Debatte,
tritt der von Hrn. Direktor Liehr geäußerten An-
ficht bei, macht aufmerksam, daß man von dem
eigentlichen Verhandlungsthema über die Vererbungs-
fähigkeit ganz abgekommen; es handle sich nicht um
die Theorie des Züchtungsvorganges, sondern die
Frage fey: Was vererbt und wie?

Google translate: Prelate Cyrill Napp briefly summarizes the course of the debate thus far and concurs with the view expressed by Director Liehr, pointing out that the discussion has strayed entirely from the actual subject—heritability; the issue at hand is not the theory of the breeding process, but rather the question: What is inherited, and how?


Mittheilungen der K.K. Mährisch-Schlesischen Gesellschaft zur Beförderung des Ackerbaues, der Natur- und Landeskunde in Brünn: 29. Nummer 1837

https://anno.onb.ac.at/anno-suche/simple?query=Mittheilungen&from=191&sort=date%20asc&selectedFilters=title:mgb&selectedFilters=date:%5B1834%20TO%201837%5D

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

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

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

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

Photo of a burning forest with the heading "Europe is burning"

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.

Euan MacDonald@euanmacdonald.bsky.social · 23h ago

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.

Bild

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 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.