Tom Wright
👨⚕️ UK Clinical Genetics SpR/Resident (OOPR)
🧬 PhD Researcher @fbmh-uom.bsky.social #RareConditions #Genomics #MentalHealth #DataScience @mft-imrare.bsky.social
💗 Proud Husband/Dad/Son/Sib + 🎭🎨🎾⚽️
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- Reposted by Tom WrightOur 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
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View full threadReposted by Tom WrightVery 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/
- Reposted by Tom Wrightanother 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
- 📣New from @rdexeter.bsky.social 📄Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxia
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- Reposted by Tom WrightWhat 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...
- Reposted by Tom WrightMore 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...
- Reposted by Tom WrightOur 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
- Reposted by Tom WrightI'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:
- Reposted by Tom WrightVery 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:
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- 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
- Day 1 at #MDC25 delivered 👏 A: 🧩🪵 Lumping, Splitting and Allelic Disorders B: 🤰🏼🧠 Environment, Exposures and Imprinting ☕️💬 ☁️2️⃣3️⃣🥂 On to Day 2! 🧬🔬
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- Reposted by Tom WrightNew 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...
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- Reposted by Tom WrightI 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
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- Reposted by Tom WrightSuper excited to share our new review paper - The role of untranslated region variants in Mendelian disease! www.nature.com/articles/s41...
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- Reposted by Tom WrightBoth 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...
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- 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...
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- Reposted by Tom WrightPretty 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...
- Reposted by Tom Wright@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...
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- Reposted by Tom WrightRob 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....
- Reposted by Tom WrightSiddharth 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...
- Reposted by Tom WrightIt's time!!! An entire session of #eshg2025 on snRNA genes ❤️🤓
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- Reposted by Tom Wright🚨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
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- Reposted by Tom WrightCan 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...
- Reposted by Tom WrightIt'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 😀
- Transcriptomics in the era of long-read sequencing go.nature.com/421ZTJm #Review by @carolinamonzo.bsky.social, Tianyuan Liu & @anaconesa.bsky.social @conesalab.bsky.social @i2sysbio.bsky.social
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