Great to see this lovely functional genomics work from @gweykopf.bsky.social @jmarshlab.bsky.social @kennethbaillie.bsky.social @gorrellmsydney.bsky.social @simonbiddie.bsky.social published. What at first sight seemed to be non-coding turns out to be coding. www.nature.com/articles/s41...

Disease-associated genetic variants can cause missense effects in tissue-specific protein isoforms - Nature Communications

Isoforms are seldom considered in genetic variant interpretation. Here the authors map common and rare variants to alternative isoforms, which can be highly expressed and tissue-specific. A common DPP...

nature.com

Great to see Giovanna's paper now out in PLoS Genetics! journals.plos.org/plosgenetics... @wbickmor.bsky.social @simonbiddie.bsky.social

Identifying severe COVID-19 risk variants modulating enhancer reporter activity in lung cells

Author summary Individual humans show widely varying responses to viral infection, including from SARS-CoV-2, which causes COVID-19. Part of this variation is driven by host genetic factors, where gen...

journals.plos.org

Giovanna Weykopf@gweykopf.bsky.social · 5mo ago

*New pre-print* I’m delighted to share the second story from my PhD 🥳 We identify 29 severe COVID-19-associated human genetic risk variants that modulate enhancer activity in lung epithelial cells 1/10 www.biorxiv.org/cgi/content/...

Very honoured that the lab has been selected as the first UK Center for Excellence by the CdLS foundation www.cdlsusa.org/centers-for-.... We aim to advance knowledge about this genetic condition and to explore similarities to other rare genetic disorders that affect gene regulation.

Centers for Excellence | CdLS Foundation

Our expanded Centers of Excellence network is here — 8 designated centers, 10+ lead investigators, and the people turning lived experience into discovery. See who's part of Mission Possible.

cdlsusa.org

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...

Mechanistic modeling of recessive disease through allelic integration of variant effects

Recessive diseases arise from the combined effects of two alleles, yet most variant interpretation methods consider variants individually. Çubuk et al. map more than 8,000 variants in the recessive en...

cell.com

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...

MRC HGU PhD Student Alumni Day

We hope you can join us for a fun and inspiring in-person gathering.

eventbrite.co.uk

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...

Dispersal of PRC1 condensates disrupts polycomb chromatin domains and loops

Polycomb repressive complex 1 (PRC1) strongly influences 3D genome organization, mediating local chromatin compaction and clustering of target loci. Several PRC1 subunits have the capacity to form bio...

life-science-alliance.org

Miles Huseyin@mileshuseyin.bsky.social · 6mo ago

I had a lot of fun putting this together with @suminkim.bsky.social and @andersshansen.bsky.social! Glad to have had the chance to work on it!

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...

UK’s £8bn research fund faces “hard decisions” as it pauses new grants

UKRI boss Ian Chapman said it had been told by the government to

bbc.co.uk

... 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.

Mark A. Hanson@hansonmark.bsky.social · 6mo ago

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

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

MRC instructs grant review boards to slash funding rates - Research Professional News

Boards asked to recommend just three applications for funding, as BBSRC also suspends calls

researchprofessionalnews.com

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

A nowhere-to-hide mechanism ensures complete piRNA-directed DNA methylation - Nature

In mice, a SPOCD1–TPR-dependent ‘nowhere-to-hide’ mechanism is required for complete non-stochastic piRNA-directed LINE1 DNA methylation by preventing transposons from escaping surveillance within heterochromatin.

go.nature.com

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

Alexis Verger 🧬🧫🧪@alexis-verger.cpesr.fr · 7mo ago

There is a special Current Opinion in Genetics & Development issue about genome architecture and expression and it looks great including reviews by @lennarthilbert.bsky.social @yghavi.bsky.social and @wbickmor.bsky.social www.sciencedirect.com/special-issu...

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

Bin Days Edinburgh App@bindaysapp.bsky.social · last yr.

Do you live in Edinburgh? Is your recycling bin being picked up this Wednesday or next Tuesday? Still not sure? This app is for you. Built by volunteers. Free for everyone. #BinDaysEdinburgh #Reminders #Edinburgh #Recycling #Waste

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 😉)

Are we living through the fall of civilisation? | The Reith Lectures 2025

YouTube video by BBC Sounds

youtube.com

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...

Why we have to continue with animal testing for medical research | Letters

Letters: Dr Robin Lovell-Badge and Prof Emma Robinson respond to an editorial on using new technologies to reduce the reliance on animal experiments

theguardian.com

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...

Decoding the genome’s hidden grammar | Institute of Genetics and Cancer | Institute of Genetics and Cancer

An ambitious synthetic biology project involving researchers from the Institute of Genetics and Cancer (IGC) has been awarded £5m to test a fundamental rule of life - how the information regulating co...

institute-genetics-cancer.ed.ac.uk

Ferenc Mueller@ferencmueller.bsky.social · 9mo ago

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).

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/

Extrachromosomal DNA associates with nuclear condensates and reorganizes chromatin structures to enhance oncogenic transcription - PubMed

Extrachromosomal, circular DNA (ecDNA) is a prevalent oncogenic alteration in cancer genomes, often associated with aggressive tumor behavior and poor patient outcome. While previous studies proposed a chromatin-based mobile enhancer model for ecDNA-driven oncogenesis, its precise mechanism and impa …

pubmed.ncbi.nlm.nih.gov

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”.

Oded Rechavi@odedrechavi.bsky.social · 9mo ago

IT'S HAPPENING! 💥 I'm psyched to launch the collaboration between @qedscience.bsky.social & @openrxiv.bsky.social @biorxivpreprint.bsky.social! Preprint + q.e.d = your science is out there, and anyone can appreciate it. Let's care about making discoveries, and not on “getting published” (1/3) 👇

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