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tomwrightuom.bsky.social
Tom Wright
@tomwrightuom.bsky.social
330 followers 270 following 34 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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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
Day 3 at #MDC25 was fantastic 👏

F: 🩻 Vascular and Connective Tissue

G:🧠 Developmental Epileptic Disorders

H: 👥 Phenotyping and Cohort Studies

🧬💭🥘🎸🪩

On to Day 4! 🎬
📸 Photo of Prof Bert Callewaert presenting at the 20th Manchester Dysmorphology and Developmental Disorders Conference during Oral Presentations F: Vascular and Connective Tissue. 🗣️ Title of this talk was: “An integrative machine learning approach to classify cutis laxa patients, supported by electron microscopy.” 🎆 The slide depicted shows a clinical diagnostic framework for cutis laxa, including a sequential classification algorithm and multiple electron microscopy panels illustrating characteristic ultrastructural findings across diagnostic subgroups. The slide also displays the EpiSign (epigenetic signature analysis) and GastaltMatcher (facial phenotype analysis) logos, informing the diagnostic classification workflow. 📸 Photo of Prof Meena Balasubramanian, Professor of Medical Genetics at the University of Sheffield and Honorary Consultant Clinical Geneticist at Sheffield Clinical Genetics Service, presenting at the 20th Manchester Dysmorphology and Developmental Disorders Conference during Oral Presentations F: Vascular and Connective Tissue. 🗣️ Title of this talk was: “Changing Landscape: Advancing Diagnostics in Rare CTDs” 🎆 The slide depicted shows the title slide of the talk over a bright blue background featuring zebrafish illustrations, alongside the logos of the University of Sheffield, Sheffield Children's NHS Foundation Trust, and Bateson Centre for Disease Mechanisms. A link to Prof Balasubramanian’s University page is also presented, signposting audience to the laboratory website and research group. 📸 Photo of Dr Stefan Barakat presenting at the 20th Manchester Dysmorphology and Developmental Disorders Conference during Oral Presentations G: Developmental Epileptic Disorders. 🗣️ Title of this talk was: “SETD1B variants drive neurodevelopmental disorders and epilepsy: delineation of the clinical phenotype of more than 120 patients and insights from 2D and 3D human models” 🎆 The slide depicted is titled “Goals of Barakat lab in a nutshell”: 1. Understanding unknown causes of disease and the role of non-coding genome in neurogenetic disorders 2. Building bridges behveen the clinic research and diagnostic, leading to patient benefit in the field of neurogenetics 
The slide includes other images including pathway schematics, Clinical Genetics and Erasmus MC logos. 📸 Photo of Dr Elizabeth VanSickle of Corewell Health Helen DeVos Children's Hospital and the International Center for Polyamine Disorders, presenting at the 20th Manchester Dysmorphology and Developmental Disorders Conference during Oral Presentations G Developmental Epileptic Disorders session 🗣️ Title of this talk was: "All pediatric patients with Bachmann-Bupp syndrome treated with repurposed Eflornithine demonstrate clinical and biochemical improvement” 🎆 The slide depicted highlights BABS/ODC1 patients 20 and counting and encourages clinicians to check patient logs, check databases, and ask colleagues to contact the specialist team as "THERE IS TREATMENT”.
November 19, 2025 at 9:08 AM
tomwrightuom.bsky.social
Day 2 at #MDC25 did NOT disappoint 👏

C:⚕️🧬 Epigenomics of Rare Diseases (EpiGenRare Symposium) rdrukhub.bsky.social

D: 🔀➰ Non-coding, Regulatory and Genomic Disorders

E: 🏥🩺 Metabolic and Endocrine Disorders

🥐☕️🤓🍲

On to Day 3! 🔭
📸👨‍⚕️ Photo of Prof Andrew Jackson from the University of Edinburgh taken at the 20th Manchester Dysmorphology and Developmental Disorders Conference. This was the first talk in oral presentations C on Day 2. The Session was title “Epigenomics of Rare Diseases (Symposium for Rare Disease Research UK EpiGenRare MRC Node)” 🗣️ Title of this talk was: “A novel segmental ageing syndrome demonstrates DNA methylation causes multiple age-related pathologies” The photo depicts Prof Jackson delivering the conclusion of the talk, which states: “DNA hypermethylation causes age-related pathologies”. The slide includes a scatter plot with “DNA methylation age” on the Y axis and “chronological age” on the X axis, showing that CpG methylation changes strongly correlate with chronological ageing. This conclusion followed the description of a novel segmental ageing syndrome caused by gain-of-function variants in DNMT3A, characterised by a phenotype that mimics aspects of ageing with associated DNA methylation changes. 📸👨‍⚕️Photo of Dr Adam Jackson presenting at 20th Manchester Dysmorphology and Developmental Disorders Conference in “The Non-coding, Regulatory and Genomic Disorders” session. 📖🗣️ The opening slide featured a quote from Arthur Conan Doyle (1892): “It has long been an axiom of mine that the little things are indefinitely the most important”, setting the scene for the story that followed: the discovery of RNU2-2 and RNU5B-1 neurodevelopmental disorders, caused by pathogenic variants in two “small” major spliceosomal RNA genes, collectively termed RNUpathies. 🔗📄 https://www.nature.com/articles/s41588-025-02209-y 📸👨‍⚕️Photo of Dr Alex Blakes presenting at 20th Manchester Dysmorphology and Developmental Disorders Conference in “The Non-coding, Regulatory and Genomic Disorders” session. 🗣️ Title of this talk was: “Biallelic variants in the non-coding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes” 🎆 The slide depicts the conclusions of the talk: 1) An SGE (Saturation Genome Editing) assay highlights a novel autosomal recessive neurodevelopmental syndrome in RNU4-2 2) Cystic white matter changes are a key feature 3) The U4-2:U4-1 ratio is a potential diagnostic biomarker 4) Dominant and recessive disorders in RNU4-2 are genetically, clinically, and molecularly distinct 📰 👉 Preprint available at the following link: https://www.medrxiv.org/content/10.1101/2025.08.13.25333306v1 📸👨‍⚕️Photo of Dr Pamela Bowman Senior Clinical Lecturer and SpR in Clinical Genetics in Exeter, presenting at 20th Manchester Dysmorphology and Developmental Disorders Conference in “Metabolic and Endocrine Disorders” session. 🗣️ Title of this talk was: “Early initiation of sulphonylurea therapy improves neurodevelopmental outcomes in individuals with KCNJ11-related iDEND syndrome (developmental delay, epilepsy and neonatal diabetes)” 🎆 The slide depicts three “Draw a man” tasks, each performed by individuals with KCNJ11-related iDEND syndrome that received sulphonylurea (SU) therapy at different ages (drawn aged 9, SU in utero; drawn aged 16, SU aged 4; drawn aged 22; SU aged 17) alongside the caption “NVIQ highest (70) in individual also treated with glibenclamide in utero” 📰 👉 Publication available at the following link: https://diabetesjournals.org/care/article/48/2/e10/157632
November 18, 2025 at 6:56 AM
tomwrightuom.bsky.social
Day 1 at #MDC25 delivered 👏

A: 🧩🪵 Lumping, Splitting and Allelic Disorders

B: 🤰🏼🧠 Environment, Exposures and Imprinting

☕️💬

☁️2️⃣3️⃣🥂

On to Day 2! 🧬🔬
Black and white drawing contrasting two scientific mindsets. On the left, a large man labelled "Lumpers" hugs a bundle of small logs tied together as one group. On the right, a thin man labelled "Splitters" chops a single large log into many small pieces with an axe. Victor A McKusick described these concepts in the paper "On lumpers and splitters, or the nosology of genetic disease" (Perspectives in Biology and Medicine, 1969) Photo of Dr Miguel del Campo giving a talk titled: "The Fetal Fentanyl syndrome – delineation of the phenotype in 37 infants prenatally exposed to fentanyl This was during Oral Presentation B session "Environment, Exposures, and Imprinting” at the 20th Manchester Dysmorphology and Developmental Disorders Conference. Dr del Campo stands at the lectern with the presentation slide projected behind him, showing the 1973 Lancet paper describing fetal alcohol syndrome.
November 17, 2025 at 7:51 AM