1/ #SantaScience 🎅🧵 🐥1st Bluesky Rodeo 🔄💬X cross-post A year ago today @theguardian.com featured our festive research 🔎We discovered Santa has a facial #phenotype distinct from elderly bearded men 💗Evidence #Santa is real 📰 www.theguardian.com/lifeandstyle... 
📝 pubmed.ncbi.nlm.nih.gov/36548933

Our new study defines a distinct #neurogenetic condition arising from recurrent structural variants at 16p13.3 palindrome. Individuals show progressive ataxia, cognitive decline, and a characteristic MRI pattern with caudate & cerebellar atrophy. #Genomics #RareDisease 🧵1/3

Very grateful to colleagues including @rdexeter.bsky.social, @nihrexeterbrc.bsky.social, @stefanbarakat.bsky.social, the NHS Rare & Inherited Disease Genomic Network of Excellence, and to the patients and families who made this work possible. 🙏 Paper: pubmed.ncbi.nlm.nih.gov/41349538/

another great international collaboration with our friends in UK and Australia to which we could contribute, describing a very unique disease mechanism for a novel neurodegenerative disorder #genetics #raredisease @ajhgnews.bsky.social @jamesfasham.bsky.social @rdexeter.bsky.social

📊Large-scale data sharing is indispensable for human genetics & genomics. ASHG calls for a broad data-sharing ethos and responsible stewardship that protects participants while enabling collaboration. #HumanGenetics #OpenScience www.cell.com/ajhg/fulltex...

Yesterday, our Chair and Secretary presented the latest ESHG-Young activities at the ERN-ITHACA Board Meeting 🧬 Great chance to show how we connect early-career human geneticists across Europe 🌍 and to recruit please for our next matchmaking at ESHG Gothenburg 🤝 #ERNITHACA #ESHGYoung #ESHG

What do we mean by "actionability" in genomic medicine? An important question as we think more about using genomes for screening as well as diagnosis... read our new paper @gimjournal.bsky.social, authors.elsevier.com/a/1mBYc3vlFV...

More international collaborative work: Single nucleotide variants in UNC13C associated with neurodevelopmental disorders affect ethanol sensitivity in Drosophila #raredisease #morbidgene #genetics #diseasemodelling www.sciencedirect.com/science/arti...

Our Ensembl 2026 paper is out! Learn about 1,900+ new genomes, expanded pangenome support, new regulation interfaces, and what’s coming in our 2026 releases. doi.org/10.1093/nar/gkaf1239

I'm delighted to say we have won the Queen Elizabeth Prize for Education with our work on OpenSAFELY, inventing new methods that let researchers analyse NHS GP data while protecting everyone's privacy, and with complete transparency, in a hugely productive platform! www.ox.ac.uk/news/2025-11...

🧠🧲 BRAIN-MAGNET: A functional genomics atlas for interpretation of non-coding variants 💡 Fantastic initiative from the Barakat Lab 👀 Great to have a sneak peak at #MDC25 🧬 Predicts enhancer activity from DNA sequence 🕵️‍♂️ Prioritises functional non-coding variants 👇🧵 Check it out

Very pleased to share our latest paper published in Cell: BRAIN-MAGNET: A functional genomics atlas for interpretation of non-coding variants: Cell www.cell.com/cell/fulltex... @cellpress.bsky.social, @cp-cell.bsky.social, @ruizhideng.bsky.social #enhancer here is a thread about our findings:

So proud of the wonderful progress in the specialty and my colleagues in Manchester who contributed great science and organised this event

20th Manchester Dysmorphology and Developmental Disorders Conference opened with a warm welcome from @mft-imrare.bsky.social clinical director Prof Banka Celebrating the history of the conference, we were treated to a glimpse of the original 1984 programme curated by @ddysmo.bsky.social 👑🧬 #MDC25

We wrote the Strain on scientific publishing to highlight the problems of time & trust. With a fantastic group of co-authors, we present The Drain of Scientific Publishing: a 🧵 1/n Drain: arxiv.org/abs/2511.04820 Strain: direct.mit.edu/qss/article/... Oligopoly: direct.mit.edu/qss/article/...

New pre-print on population penetrance - the first of a set exploring specific gene-disease pairs under consideration for genomic newborn screening. Spoiler alert: careful curation is essential, but penetrance is lower in population than clinical cohorts. www.medrxiv.org/content/10.1...

www.bbc.co.uk/news/article....

I am absolutely delighted to share our work describing a new *recessive* condition caused by variants in #RNU4-2. Yes, that #RNU4-2! tinyurl.com/3j9r56s8 @rociorius.bsky.social @yuyangchen.bsky.social @gregfindlay.bsky.social @dgmacarthur.bsky.social @cassimons.bsky.social @nickywhiffin.bsky.social

Article summarising the the key themes identified at the ELSI Conference which look place earlier this year. Highlighting a range of different priorities and challenges of rare condition clinical trials.

Our new study characterises ELFN1 deficiency as a novel autosomal recessive neurodevelopmental disorder marked by epilepsy, GDD/ID, & movement disorders. Biallelic ELFN1 variants disrupt synaptic protein trafficking to the cell surface—validated through functional assays and mouse/zebrafish models.

Super excited to share our new review paper - The role of untranslated region variants in Mendelian disease! www.nature.com/articles/s41...

New research set to uncover lost ancient medical texts A team of researchers at @manchester.ac.uk have secured a major €2.5 million grant from the @erc.europa.eu to uncover lost medical writings that could transform our understanding of ancient medicine. ⤵️ www.manchester.ac.uk/about/news/n...

"Have you thought about applying the @opensafely model, for data privacy and efficiency, to non-health data?" YES WE HAVE Behold the new... OpenSAFELY-Schools!! schools.opensafely.org

New research investigates de novo variants in R-loop forming regions across large-scale genomic datasets identifying RNU2-2 and RNU5B-1 as novel #NDDs genes. Together with RNU4-2, these explain a high number of previously unsolved NDDs cases. #snRNAs www.nature.com/articles/s41...

Great talk by Jamie Ellingford about UPD as a cause of rare conditions in the 100k Genomes at the ACGS meeting in Birmingham

Great work published today as preprint on 44k exonerated from the Genes and Health study www.medrxiv.org/content/10.1...

Check out this article by @carolineleacarnall.bsky.social and other members of our Spin Lab team! Funded by @nihr.bsky.social MH-TRC Mission, hosted at @oxhealthbrc.bsky.social: www.sciencedirect.com/science/arti...

🧠A new study has found that brain stimulation therapy affects brain activity in teenagers with a neurological genetic disorder. Read more about this NIHR Mental Health Translational Research Collaboration Mission research: tinyurl.com/2v5vcwxw @manchester.ac.uk

Good morning Bluesky ☀️ ✨ Campus views never disappoint #Manchester #UoM

Amazing and exciting progress for rare conditions and families @uniquecharity.bsky.social. By all (clinicians, researchers and patients) working together will can continue to drive forward improved diagnosis, care and treatment for all.

Both translational and fundamental curiosity-driven research are needed to fuel the incredible progress we're seeing in genomic medicine; an important message in this article and and some lovely quotes from @sarahlwynn.bsky.social www.ft.com/content/25dd...

👋 Bluesky 🔬 We are a research group @fbmh-uom.bsky.social 🧠 We study brain plasticity in neurodevelopment using advanced brain imaging & computational methods 🎯 Our aim is to develop personalised treatments to support learning in children with rare genetic conditions 🔗 spinlab-uom.github.io

Wonderful talk Prof Jonathan Green @fbmh-uom.bsky.social CYP & Families Themed Meeting chaired by Shruti Garg & Matthias Pierce 👏 🧠 ‘Re-imagining autism from the inside: neurodiversity, phenomenology and developmental science’ 🎧 Check out @acamh.bsky.social podcast open.spotify.com/episode/5g6H...

📢Clinicians: This is your last chance to lead the development of new Unique Information Guides for rare genetic neurodevelopmental disorders using a cutting-edge AI solution. Final deadline: 6ᵗʰ June. Submit your proposal here: forms.office.com/e/jziupyz04f 🔗https://mrcc.org.uk/news/2994/

Pretty excited about giving Talos a try in the NHS @rdexeter.bsky.social‬. We should definitely be doing regular reanalysis of existing genome-wide sequencing data, just need the right tools!

@zornitza.bsky.social updating on Talos automated reanalysis pipeline #ESHG2025 >250 new diagnosis from 4744 unsolved cases. That’s 5% new extra for <1 variant per case, it’s #scaleable! Pre-print now out: www.medrxiv.org/content/10.1... Talos is #portable #opensource: github.com/populationge...

Up next: Sid banka on work led by Adam Jackson R-loops are mutation prone DNA-RNA hybrids - enriched for de novo variants. Compare rare disease (GEL 100k) to population: highest signal for RNU4-2, but also other enriched snRNAs, incl. RNU2-2 & RNU5B-1. Replicated in other cohorts. #eshg2025 1/2

27 patients: RNU2-2 9 patients: RNU5B-1 Characterised related NDDs and expression in brain and retina. Show that variants impact critical residues in structures. 3 snRNA genes described so far together explain ~1.5% of undiag NDD. Remarkable given their small size. #eshg2025 2/2

Time to modernise the human reference genome. Karen Miga @humanpangenome.bsky.social on how T2T assemblies open new biological discoveries. Still one genome cannot represent our genetics diversity, No matter how complete. Incredibly exciting for the global community. #ESHG2025

Group poster today - superstar postdoc @rujiawang.bsky.social will present a predictive model for anxiety disorders and their severity in GLAD and UK Biobank-integrating family history, polygenic risk, childhood trauma, and demographics. Poster P11.084.C, 26/5 from 13:00.

Rob Harkness #ESHG2025 Genetic risk of acute-onset axonal neuropathy following infection RCC1 is novel AR #DiseaseGene Onset ~18m #GuillianBarre-like Clinical course #ALS-like Proteins reduced thermal stability 🪰 reduced survival to paraquat stress papers.ssrn.com/sol3/papers....

Siddharth Banka #ESHG2025 R-loop forming regions genes #RNU2-2 and #RNU5B-1 novel non-coding NDD genes #MorbidGene Clinical features of these new "RNU"pathies - Hypotonia, macrocephaly, seizures, FTT - explain 10-15 / 1000 rare NDDs www.medrxiv.org/content/10.1...

It's time!!! An entire session of #eshg2025 on snRNA genes ❤️🤓

Here's a preprint of our work where we found that most genes which cause monogenic, severe liver disease also affect the onset and/or severity of liver-related traits in adults. [Not yet peer reviewed.] doi.org/10.1101/2025...

Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders #RareDisease #Genetics www.medrxiv.org/content/10.1...

🚨I could not be more excited to share our new preprint on saturation genome editing of the small nuclear RNA (snRNA) RNU4-2: www.medrxiv.org/content/10.1... A super fun collaboration with incredible duo @gregfindlay.bsky.social @joachimdejonghe.bsky.social from @crick.ac.uk 🧬🖥️🩺 🧵1/12

Long reads such as @nanoporetech.com or @pacbio.bsky.social can provide insights into epigenetic. We @yileifu.bsky.social & @timp0.bsky.social )summarize the latest #Bioinformatics approaches & why this matters! Out now @natrevgenet.bsky.social at: bit.ly/4cjxUtl @bcmhouston.bsky.social @jhu.edu

An article in Genome Medicine presents STRchive: a dynamic resource consolidating information on tandem repeat (TR) disease loci from the research literature and large-scale genomic databases to streamline TR variant interpretation at disease-associated loci. #Epigenetics

Can you spare 5 minutes to help shape the future development of DECIPHER? Your views are extremely important to us. Please access our user survey here: docs.google.com/forms/d/e/1F...

It's finally out!!!! Our review on long-reads transcriptomics was published in @natrevgenet.bsky.social!! You can have a look at the paper here rdcu.be/efugl! We hope you like it 😀