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tomwrightuom.bsky.social
Tom Wright
@tomwrightuom.bsky.social
350 followers 280 following 35 posts
👨‍⚕️ 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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tomwrightuom.bsky.social
Tom Wright @tomwrightuom.bsky.social · Dec 24
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
Reposted by Tom Wright
tomwrightuom.bsky.social
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
December 24, 2024 at 4:15 PM
Reposted by Tom Wright
jamesfasham.bsky.social
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
December 8, 2025 at 8:42 AM
Reposted by Tom Wright
jamesfasham.bsky.social
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/
Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxia - PubMed
Complex neurodegenerative conditions have occasionally been associated with copy-number gains. Using microarray and genome sequencing on DNA samples from eleven individuals from nine unrelated families, we show that copy-number gains at 16p13.3 cause a severe, recognizable disorder characterized by …
pubmed.ncbi.nlm.nih.gov
December 8, 2025 at 8:42 AM
Reposted by Tom Wright
stefanbarakat.bsky.social
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
December 6, 2025 at 11:23 AM
Reposted by Tom Wright
eshg.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...
Collaborative science in genomics: The value of data sharing and thoughtful stewardship
Large-scale data sharing is indispensable for advancing human genetics and genomics (HGG) research and medicine. The willingness of study participants and researchers to share data has been the…
www.cell.com
December 5, 2025 at 10:52 AM
Reposted by Tom Wright
eshgyoung.bsky.social
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
December 5, 2025 at 11:42 AM
Reposted by Tom Wright
carolinefwright.bsky.social
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...
December 1, 2025 at 8:43 AM
Reposted by Tom Wright
stefanbarakat.bsky.social
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...
November 28, 2025 at 5:14 PM
Reposted by Tom Wright
ensembl.org
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
Ensembl 2026
Abstract. The Ensembl project (https://www.ensembl.org) is a public and open resource providing access to genomes, annotations, high-quality tools, and met
academic.oup.com
November 28, 2025 at 4:30 PM
Reposted by Tom Wright
bengoldacre.bsky.social
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...
OpenSAFELY team awarded Queen Elizabeth Prize for Higher and Further
Oxford’s OpenSAFELY team wins the prestigious Queen Elizabeth Prize for revolutionising secure NHS data research, protecting patient privacy while unlocking life-saving health insights.
www.ox.ac.uk
November 26, 2025 at 5:53 PM
tomwrightuom.bsky.social
🧠🧲 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
November 20, 2025 at 9:58 AM
Reposted by Tom Wright
stefanbarakat.bsky.social
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:
BRAIN-MAGNET: A functional genomics atlas for interpretation of non-coding variants
BRAIN-MAGNET, a convolutional neural network trained on 148,198 functionally tested non-coding regulatory elements, predicts enhancer activity directly from DNA sequence and identifies nucleotides ess...
www.cell.com
November 20, 2025 at 9:38 AM
Reposted by Tom Wright
ddysmo.bsky.social
So proud of the wonderful progress in the specialty and my colleagues in Manchester who contributed great science and organised this event
November 18, 2025 at 10:46 PM
tomwrightuom.bsky.social
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
November 16, 2025 at 3:20 PM
Reposted by Tom Wright
hansonmark.bsky.social
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/...
A table showing profit margins of major publishers. A snippet of text related to this table is below. 1. The four-fold drain 1.1 Money Currently, academic publishing is dominated by profit-oriented, multinational companies for whom scientific knowledge is a commodity to be sold back to the academic community who created it. The dominant four are Elsevier, Springer Nature, Wiley and Taylor & Francis, which collectively generated over US$7.1 billion in revenue from journal publishing in 2024 alone, and over US$12 billion in profits between 2019 and 2024 (Table 1A). Their profit margins have always been over 30% in the last five years, and for the largest publisher (Elsevier) always over 37%. Against many comparators, across many sectors, scientific publishing is one of the most consistently profitable industries (Table S1). These financial arrangements make a substantial difference to science budgets. In 2024, 46% of Elsevier revenues and 53% of Taylor & Francis revenues were generated in North America, meaning that North American researchers were charged over US$2.27 billion by just two for-profit publishers. The Canadian research councils and the US National Science Foundation were allocated US$9.3 billion in that year. A figure detailing the drain on researcher time. 1. The four-fold drain 1.2 Time The number of papers published each year is growing faster than the scientific workforce, with the number of papers per researcher almost doubling between 1996 and 2022 (Figure 1A). This reflects the fact that publishers’ commercial desire to publish (sell) more material has aligned well with the competitive prestige culture in which publications help secure jobs, grants, promotions, and awards. To the extent that this growth is driven by a pressure for profit, rather than scholarly imperatives, it distorts the way researchers spend their time. The publishing system depends on unpaid reviewer labour, estimated to be over 130 million unpaid hours annually in 2020 alone (9). Researchers have complained about the demands of peer-review for decades, but the scale of the problem is now worse, with editors reporting widespread difficulties recruiting reviewers. The growth in publications involves not only the authors’ time, but that of academic editors and reviewers who are dealing with so many review demands. Even more seriously, the imperative to produce ever more articles reshapes the nature of scientific inquiry. Evidence across multiple fields shows that more papers result in ‘ossification’, not new ideas (10). It may seem paradoxical that more papers can slow progress until one considers how it affects researchers’ time. While rewards remain tied to volume, prestige, and impact of publications, researchers will be nudged away from riskier, local, interdisciplinary, and long-term work. The result is a treadmill of constant activity with limited progress whereas core scholarly practices – such as reading, reflecting and engaging with others’ contributions – is de-prioritized. What looks like productivity often masks intellectual exhaustion built on a demoralizing, narrowing scientific vision. A table of profit margins across industries. The section of text related to this table is below: 1. The four-fold drain 1.1 Money Currently, academic publishing is dominated by profit-oriented, multinational companies for whom scientific knowledge is a commodity to be sold back to the academic community who created it. The dominant four are Elsevier, Springer Nature, Wiley and Taylor & Francis, which collectively generated over US$7.1 billion in revenue from journal publishing in 2024 alone, and over US$12 billion in profits between 2019 and 2024 (Table 1A). Their profit margins have always been over 30% in the last five years, and for the largest publisher (Elsevier) always over 37%. Against many comparators, across many sectors, scientific publishing is one of the most consistently profitable industries (Table S1). These financial arrangements make a substantial difference to science budgets. In 2024, 46% of Elsevier revenues and 53% of Taylor & Francis revenues were generated in North America, meaning that North American researchers were charged over US$2.27 billion by just two for-profit publishers. The Canadian research councils and the US National Science Foundation were allocated US$9.3 billion in that year. The costs of inaction are plain: wasted public funds, lost researcher time, compromised scientific integrity and eroded public trust. Today, the system rewards commercial publishers first, and science second. Without bold action from the funders we risk continuing to pour resources into a system that prioritizes profit over the advancement of scientific knowledge.
November 11, 2025 at 11:52 AM
Reposted by Tom Wright
carolinefwright.bsky.social
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...
Reduced penetrance of COL1A1/2 pathogenic variants linked with osteogenesis imperfecta: analysis of a large population cohort
Osteogenesis imperfecta (OI) is under consideration for inclusion in several genomic newborn screening initiatives, but its penetrance in clinically-unselected populations is currently unknown. It is ...
www.medrxiv.org
October 24, 2025 at 12:45 PM
Reposted by Tom Wright
wendydjones.bsky.social
www.bbc.co.uk/news/article....
Huntington's disease successfully treated for first time
One of the most devastating diseases finally has a treatment that can slow its progression and transform lives, tearful doctors tell BBC.
www.bbc.co.uk
September 24, 2025 at 7:46 PM
Reposted by Tom Wright
alexblakes.bsky.social
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
Biallelic variants in the non-coding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes
Genetic variants in RNU4-2, which encodes U4, a key non-coding small nuclear RNA (snRNA) component of the major spliceosome, were recently shown to cause a prevalent neurodevelopmental disorder (NDD) ...
www.medrxiv.org
August 18, 2025 at 11:23 AM
Reposted by Tom Wright
mft-imrare.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.
A Day of Discussion: The ELSI Conference 2025
Authors: Emily Clarke, Tara Clancy, Amy Hunter, Faye Johnson, Simon Jones, Sinduja Manohar, Gracie Mellalieu, Yvette Mellalieu, Melissa McKie, Arti Patel, Peter Style, Shelley Wagon, Sarah Wynn Introd...
www.linkedin.com
July 31, 2025 at 1:09 PM
Reposted by Tom Wright
reza-maroofian.bsky.social
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.
gimjournal.bsky.social Genetics in Medicine @gimjournal.bsky.social · Jul 25
Neurogenetics alert! Biallelic loss of function variants in ELFN1 cause a neurodevelopmental disorder with DD/ID, seizures and movement disorder. bit.ly/4lLrZ46
July 26, 2025 at 10:11 PM
Reposted by Tom Wright
nechamawieder.bsky.social
Super excited to share our new review paper - The role of untranslated region variants in Mendelian disease!
www.nature.com/articles/s41...
The role of untranslated region variants in Mendelian disease: a review - European Journal of Human Genetics
European Journal of Human Genetics - The role of untranslated region variants in Mendelian disease: a review
www.nature.com
July 4, 2025 at 8:08 AM
Reposted by Tom Wright
uomhums.bsky.social
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...
New research set to uncover lost ancient medical texts
A team of researchers at the University of Manchester have secured a major €2.5 million (£2.1 million) grant from the European Research Council to uncover lost medical writings that could transform ou...
www.manchester.ac.uk
June 17, 2025 at 11:13 AM
Reposted by Tom Wright
bengoldacre.bsky.social
"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
OpenSAFELY Schools
A collaboration between the National Institute of Teaching and the Bennett Institute for Applied Data Science
schools.opensafely.org
June 17, 2025 at 11:19 AM
Reposted by Tom Wright
eshg.bsky.social
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...
Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes - Nature Genetics
Genomic analyses focused on regions that form R-loops identify rare mutations in RNU2-2 and RNU5B-1 in individuals with neurodevelopmental disorders.
www.nature.com
June 2, 2025 at 11:46 AM
Reposted by Tom Wright
geneticbill.bsky.social
Great talk by Jamie Ellingford about UPD as a cause of rare conditions in the 100k Genomes at the ACGS meeting in Birmingham
June 12, 2025 at 9:38 AM