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 😀

What happens when #genomic testing is funded?🧬 👉 rdcu.be/d8MSL Last 10yrs 🇦🇺: Many tests approved as evidence grows ✅ BUT testing volumes low AND inequitable access Budget impact of #genomics minor: AU$3Mpa or <0.01% of all health expenditure 💰 @ausgenomics.bsky.social @iliasgoranitis.bsky.social

The first major output from the MRC funded GEMINI sites.exeter.ac.uk/gemini/Multi... consortium. We bring together genetic and primary care data from multiple sources to compare 2546 pairs of traits based on 72 long term chronic heritable conditions: www.sciencedirect.com/science/arti...

New: The largest medical A.I. randomized controlled trial yet performed, enrolling >100,000 women undergoing mammography screening The use of AI led to 29% higher detection of cancer, no increase of false positives, and reduced workload compared with radiologists w/o AI thelancet.com/journals/lan...

2/14 Research on child mental health support and interventions needs to broaden its horizons. Services have tended to prioritise interventions often based on adult models such as medication and CBT. Should we have more developmentally appropriate, child friendly interventions? What would these be?

1/14 The Princess of Wales today suggests that child mental health prevention is a healthy way forward by supporting the development of social and emotion skills. This is a thread to ask what research is going on in this space www.bbc.co.uk/news/article...

📊 🧬 Great to be at the UK Biobank UoM Showcase event today @official-uom.bsky.social Fantastic keynote talk & overview @ukbiobank.bsky.social provided by Prof Martin Rutter 👏 🗣️ “UK Biobank is a prism for any scientist anywhere to explore health and disease in their unique way”

NDUFA13, a mitochondrial complex I subunit, was linked to complex I deficiency in only 3 patients. We now report 10 more cases, expanding the phenotypic spectrum, consolidating its role, & comparing it with other complex I deficiency subtypes. Please Check our paper: academic.oup.com/braincomms/a...

We just published a paper on what the new NATIONAL DATA LIBRARY should look like. It's very readable! Lots on: accountability.. federated analytics.. code.. modular tools.. Thanks to @wellcometrust and @ESRC who ran a competition for these papers! zenodo.org/records/1467...

#GestaltGAN Superb initiative & valuable resource for Clinical Geneticists in training Will undoubtedly lead to more #raredisease diagnoses @eshg.bsky.social EJHG Paper “GestaltGAN: synthetic photorealistic portraits of individuals with rare genetic disorders” 🔗 📄 www.nature.com/articles/s41...

Congratulations @JosephFirthUoM @fbmh-uom.bsky.social @official-uom.bsky.social and colleagues ntfabiano.bsky.social on this fantastic paper 📄”Promoting healthy digital device usage: recommendations for youth and parents" 💻📲🤳

Excited to share our latest study in @nature.com We used a humanized-mouse ES cell model to explore the functional consequences of all possible BRCA2 missense variants. We've clinically classified >6,500 variants and >1,200 reported in ClinVar! www.nature.com/articles/s41...

Have a look at our latest work on PacBio LRS showing its potential as a single technology to accurately identify all types of clinically relevant variants. www.sciencedirect.com/science/arti...

How do we measure the value of #genomics for #policy decisions? Check out our new GUV scale! 👉 www.valueinhealthjournal.com/article/S109... 👏 great collaboration @iliasgoranitis.bsky.social @andrewmallett8.bsky.social @stephaniebest.bsky.social @zoefehlberg.bsky.social @ausgenomics.bsky.social

TRMT1 & TRMT1L modify tRNAs, essential for protein production. Their modifications are crucial for tRNA stability & function. Biallelic TRMT1 variants are linked to intellectual disability, while TRMT1L variants lead to a neurodegenerative disorder. Check our new paper! www.cell.com/cell-reports...

A @gnomad-project.bsky.social Short Tandem Repeat track is now available on the genome browser which displays information about 60 disease associated repeat loci. The associated diseases are displayed along with the normal and pathogenic repeat lengths, and links to STRipy

First 🦋 post! Very excited to share our lab's latest work exploring the shared and divergent aspects of human astrocyte development and glioblastoma. This effort spans many fields from developmental #glial biology to #stem cells and #tumor biology. rdcu.be/d5ADz A 🧵