Although cohesin-sensitive, long-range enhancer activation is equivalent in nature to proximal activation. Cooperativity can arise from different levels of activation inputs operating on a non-linear response function. @eliasfriman.bsky.social @uoe-igc.bsky.social www.biorxiv.org/content/10.6...

New work led by Hasan Cubuk: moving from interpreting variants individually to combining both alleles in recessive disease. DMS of >8000 ADSL variants → inferred enzyme activity → additive biallelic scores that track patient phenotypes. Great collab with the Kudla lab! www.cell.com/cell-systems...

Calling all alumni of the MRC Human Genetics Unit Join us on Wednesday 23rd Sept to mark the last ever intake of PhD students to the HGU, and to celebrate the achievements of our alumni, and current PhD cohort. To secure a place, please registerat: www.eventbrite.co.uk/e/mrc-hgu-ph...

Pot of gold?

Sad to hear that Pat Jacob has died aged 91. Pat was a seminal figure in the early days of human genetics. She co-discovered the 1st human chromosome abnormality - XXY Kleinfelter's syndrome in 1959, published contemporaneously with the discovery of trisomy 21 in Down’s syndrome by a French group.

Delighted to see this published: H3K115 acetylation is associated with fragile nucleosomes at CpG island promoters and active regulatory sites. Great work from all contributors; Yatendra Kumar, @illingworth-lab.bsky.social @eliasfriman.bsky.social @helink.bsky.social doi.org/10.7554/eLif...

New pre-print identifying 29 Covid GWAS variants that drive allele-specific activity in a functional genomics screen in lung cells, from @gweykopf.bsky.social and @eliasfriman.bsky.social @simonbiddie.bsky.social www.biorxiv.org/content/10.6... @uoe-igc.bsky.social @uk-fgx.bsky.social

Waiting for reviewer 3

Nice review of 3D interactions medicated by polycomb. Also worth considering this study showing how such interactions can be rapidly and reversibly disrupted by hexanediol. www.life-science-alliance.org/content/6/10...

Delighted to see Charlotte "Lotte" Auerbach celebrated in the @royalsociety.org #WomenInSTEM History map of the UK. First woman to be awarded the Royal Society’s Darwin Medal and an inspirational life history. royalsociety.org/news-resourc...

Helpful update into UKRI and research council funding changes from Zoe Kleinman @zsk.bsky.social But please more focus on 2 things... 1) Immediate effects (eg funding decisions expected in March) 2) Likely disproportionate effects on early career scientists www.bbc.co.uk/news/article...

... and we're off. Great kick-off meeting for the start of the ERC synergy GeneMotors project. So much energy and enthusiasm. @ceesdekker.bsky.social @erc.europa.eu

At a time when the UK should be capitalising on its global reputation as a great place to do science, this is an enormous own goal. I am so sorry for all those who jobs are going to be impacted.

Both MRC and BBSRC responsive modes now withdrawn until further notice. Existing applications unlikely to succeed (late 2025 round expecting 1-5% success rate). Listen, I get that UKRI wants to pivot. But killing both at once is devastating. Let's hope at least one opens by summer... #AcademicSky

Nature research paper: A nowhere-to-hide mechanism ensures complete piRNA-directed DNA methylation go.nature.com/4pDVgPq

Delighted to have a contribution in this issue together with @eliasfriman.bsky.social

The world’s problems may seem so huge that you feel helpless, but small innovations by smart people can make a world of difference.

My first Reith Lecture is now out in video form: A Time of Monsters. On moral decay, elite cowardice, and why we need a moral revolution. Watch here 👉 youtube.com/watch?v=fUJ-... (With one tiny edit at 4:28, for those who notice such things 😉)

Am I in my office, or in a Disney film? Sometimes Edinburgh just takes your breath away.

Key points on the need for continued animal use in scientific research. www.theguardian.com/science/2025...

Excited to start working on this BBSRC sLola project to decode the semantic rules of large regulatory domains, led by @ferencmueller.bsky.social with colleagues from Birmingham, Manchester, Crick, MRC-LMS and EBI-ENSEMBL institute-genetics-cancer.ed.ac.uk/decoding-the... bsky.app/profile/fere...

1. We start a major consortium programme funded by the sLoLa of BBSRC (shorturl.at/aUbnt) to decipher the semantic rules of enhancer arrangements driving regulator genes of development (shorturl.at/6qcjW).

To advance our knowledge about the role of ecDNAs in cancer, it would be helpful if people could at least acknowledge that not everyone concludes that ecDNAs form "hubs" in the nucleus. pubmed.ncbi.nlm.nih.gov/40972571/ pubmed.ncbi.nlm.nih.gov/41237767/ pubmed.ncbi.nlm.nih.gov/36476408/

I’m fascinated to try this. It’s such a relief to see the journey we are on that started with the launch of BioRxiv and that could liberate us from the most depressing aspect of science - “getting published”.

So excited to be funded by @erc.europa.eu to work with this extraordinarily talented group of scientists on the GeneMotors project - unravelling how SMC motors work, how they are regulated and how they regulate gene expression. @ceesdekker.bsky.social @uoe-igc.bsky.social

It is with great sadness that we share the news of the death of our founder, colleague, mentor and friend, Professor Sir John Gurdon. His vision and dedication will continue to inspire generations of scientists. 🔗 www.gurdon.cam.ac.uk/nobel-laurea...

We're all ready for #DoorsOpenDays2025 tomorrow and looking forward to showing off a snapshot of the work we do at the Institute 🔬🧬🥼🧪 🧫 @cmvm-edinburghuni.bsky.social

Dan's latest song, for Stephen Colbert, Jimmy Kimmel, and all the comedians out there--

Honoured to be in Birmingham to mark Bryan Turner’s retirement- a gentleman and giant of epigenetics.

Well, we survived our ERC Synergy interview. So exciting working with this great GeneMotors team of SMC experts @ceesdekker.bsky.social Benjamin Rowland, Leonid Mirny. Here's hoping we can continue working together for the next 6 years.

preparing for our ERC Synergy Grant interview tomorrow! #rehearsingrehearsingrehearsing

Working class women makes inadvertent mistake and resigns. Posh bloke uses devious means to avoid paying income tax and stamp duty... and doesn't resign. www.theguardian.com/politics/202...

Our manuscript characterising tissue-specific consequences of tagged protein fusions in CRISPR-engineered mice is now online @PLOSGenetics. journals.plos.org/plosgenetics.... Thanks again to all coauthors, reviewers and editors for a smooth publication process. Brief summary below.

New paper out today in PLOS Comp Biol: journals.plos.org/ploscompbiol... Intrinsically disordered regions make variant prediction deceptively easy for benign changes but very hard for pathogenic ones. Our work shows why current tools struggle here, and why disorder-aware approaches are needed.

GWAS to mechanism: when non-coding is coding. Beautiful insightful science from @gweykopf.bsky.social @simonbiddie.bsky.social Joe Marsh and many colleagues. @uoe-igc.bsky.social @cmvm-edinburghuni.bsky.social www.biorxiv.org/content/10.1...

Great to see this published @genesdev.bsky.social. Evidence that enhancers can activate a bystander gene in an adjacent TAD, and that cohesin facilitates this. @uoe-igc.bsky.social. pubmed.ncbi.nlm.nih.gov/40436628/

Exquisite work. Well done to the whole team.

Non-profit journals are on the critical list. The cause: academics obsession with the Nature brand, coupled with the APC $ model. Some will argue it doesn’t matter (“all as bad as each other”). But the fact is undeniable and it’s good guys who put money back into science like COB who are losing..

Excited to share our new paper out today in @cp-molcell.bsky.social! We show that the H3K27M oncohistone rewires cPRC1, creating a unique dependency on CBX4/PCGF4-containing complexes, and also reveal a previously unknown function of CBX4. Highlights below (1/11).

“I certainly do not let myself be underpaid as many women do. There are people who write to me and think because I am a woman I will ask less than a man. This I never do. I know my profession and charge accordingly, as all women should do.” I love this 💞 www.theguardian.com/society/2025...

Read more about this study by @jmarshlab.bsky.social 👇

ZC3HC1 and TPR is not required for TPR localisation at the nuclear pore basket, and the two have different functions. wellcomeopenresearch.org/articles/10-...

Eric Green is a giant of the Human Genome Project. His legacy of discoveries, enhancing human knowledge and humanity, is engraved in the scientific literature and cannot be erased. Something these philistines who have seized power will never understand. www.deiwatchlist.com/dossier/eric...

OK, I'm not going to say a word about this. Go ahead and list what's wrong with this study. We need a generation of reviewers to be confident expressing their concerns, just as we need researchers not to perform these wasteful and damaging studies in the first place. www.nature.com/articles/s41...

Sign up now for the 'Enter the Dark Genome - Instructions Hidden in Plain Sight' talk by @katarney.bsky.social at @rcpedin.bsky.social on 2 April from 6-7pm, followed by a drinks reception: edin.ac/4ip4egz

Unpicking non-coding genetic variation: Structure-guided modelling holds promise for evaluating how single nucleotide variants affect transcription factor binding. www.biorxiv.org/content/10.1.... @uoe-igc.bsky.social

Edinburgh people! I'm delighted to have been invited to give a public lecture on 2nd April at the Royal College of Physicians, ahead of the Dark Genome conference. Details here: institute-genetics-cancer.ed.ac.uk/news-events/... Book a free ticket here: www.eventbrite.com/e/enter-the-...

Take a trip to the frontiers of biology to explore the weird & wonderful world inside your DNA at a free public lecture by award-winning science communicator & author Dr Kat Arney at the Royal College of Physicians of Edinburgh on 2 April from 6-7pm, followed by a drinks reception: edin.ac/4ip4egz

Feels like a small act of defiance, or at least group therapy. Packed audience in Edinburgh 2nite.