James Fasham
🧬👨⚕️Academic Consultant in Clinical Genetics 💬 ESHG Social media chair. 🤖 @DiseaseGenes bot creator #Genetics #Genomics #RareDisease
- Reposted by James Fashamanother 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
- 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
- Long-read sequencing revealed inverted duplication–triplication structure not reliably detectable using standard clinical genomic assays 🔬 RNA-seq demonstrated significant ATP6VOC upregulation, implicating disrupted vacuolar H⁺-ATPase stoichiometry
- 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/
- Amicia Phillips challenging traditional definitions of 'actionability' in the context of genomic #newbornscreening #ICoNS25
- Prof. Caroline Wright @UniofExeter explaining the challenges of quantifying penetrance of rare diseases in population cohorts at @ICoNSeqOrg #ICoNSs25 Beware ⚠️ - accidental inclusion of benign variants - relying on limited phenotype data / codes which may be erroneous
- Follow up discussion: A phenotypic spectrum / risk often exists below the level of a clinical "syndrome". E. g. QT interval distribution How does this affect our understanding of penetrance and expressivity? Do parents understand this and how do we explain it if not?
- Alistair Pagnamenta: rlReduced OI penetrance in @uk_biobank, implications for genomic newborn screening at #ICoNS25. 🦴 majority with P/LP variants have do not have multiple fractures Impact on protein supported by proteomic data 👀 Preprint out today www.medrxiv.org/content/10.1...
- At #ICoNS25 meeting in London the last 2 days (sorry for absence of livetweets!) Exploring the future of genomics as part of routine #NewbornScreening worldwide
- Reposted by James FashamI loved it once again! Thanks for everyone making #eshg2025 happen! #eshg2025 —> #eshg2026 Any suggestions for improvement ; ideas for topics and speakers? Await the formal survey by @eshg.bsky.social but you can also let me know personally: docs.google.com/document/d/1...
- #MorbidGene (Test 2)
- (Testing @diseasegenes.bsky.social) #MorbidGene
- (just testing the new 🤖 @diseasegenes.bsky.social bot) #MorbidGene (please see it's page, I will need to preauthorise all posters on BlueSky, API issues 🙄)
- Reposted by James FashamAlso many thanks for the incredible - and ever growing - presence of colleagues, friends and collaborators from down under at #eshg2025 with many thanks to your SPC delegates — what a team 🇦🇺🇦🇺🇦🇺🇦🇺🇦🇺
- Reposted by James FashamOur amazing variant curator @njhenden.bsky.social presenting at #ESHG2025 - homozygous variant in SECISBP2 causing a severe perinatal cardiomyopathy - expanding the phenotype spectrum of selenoprotein deficiency disorders @nataliepstewart.bsky.social @amybakerlms.bsky.social
- Look forward to seeing you in Exeter Lein ☺️
- ESHG Mentorship scheme awardees 2025 • Nesibe Bulut Turkey to Vienna, Austria • Tea Mladenić Croatia to Jena, Germany • Melda Erdoğdu Turkey to Linköping, Sweden • Lein Dofash Australia to Exeter, UK • Daniela Oliveira Portugal to Stockholm, Sweden #ESHG2025
- Reposted by James Fasham#eshg2025 it’s a wrap! We hope you enjoyed this year’s #eshg #hybridconference. Thank you for being part of it! We look forward to seeing you all at #eshg2026 in Gothenburg!
- Congratulations Jingzhan ☺️
- #ESHG2025 Mia Neri Award for best presentation in cancer research. Jingzhan Lu,Exeter, United Kingdom "Predicting prostate cancer by combining Prostate Specific Antigen (PSA) test results with Genetic Risk Scores (GRS)"
- Mathilde DOYARD #ESHG2025 Starting with information that TBXAS1 disorders ⬆️ bone density 💊Could it be a target to treat bone fragility disorders such as OI? thromboxane synthase (TXAS) inhibitors in 🐭 studies ⬆️ bone formation ⬆️ biomechanical profiles Patients next?
- Edu Calpena #ESHG2025 @educalpena.bsky.social Ectopic SIX3 expression underlies the craniofacial syndrome caused by deletions at the SIX2 locus "Ectopic expression of SIX3 in the SIX2 territory" 2p21 deletions with TAD disruption shown below
- Hristiana Lyubenova #ESHG2025 The absence of an enzyme-rescue metabolite as the cause of Catel-Manzke syndrome A deep dive into uncovering the mechanism of this well-recognised condition
- Reposted by James FashamJames Ware. The majority of cardiomyopathy cases do not have an identified monogenic cause. #ESHG2025
- Reposted by James FashamJames Ware introduced the term "recreational genomics" to refer to certain consumer genetic tests. And I love it. #ESHG2025
- Reposted by James FashamThe two sessions on penetrance and expressivity were among my top favourite seesions this year. #ESHG2025
- Reposted by James FashamCurrent speaker Harry Wright in plenary session has been working in human genetics for 14 months. Another star in the making from the Exeter team #ESHG2025. Pointing out non coding aggregate signal in FGF18 for height, the gene has no coding signal (very constrained gene).
- Reposted by James FashamAlready-risen Exeter star Gareth Hawkes @drghawkes.bsky.social following up with the latest master class in how to use WGS data, >1 billion variant based GWAS. They bypassed the WES era as didn't want to leave out 99% of the genome :-) #ESHG2025
- Eike Bolmer #ESHG2025 🩻 Bone2Gene-Screen: AI-Augmented Early Detection of Rare Bone Diseases ✋Using hand x-ray 🔴 Occlusion testing allows important region within the image to be defined (see below)
- Chofit Chai #ESHG2025 Loss of CELSR1 and impaired Wnt/planar cell polarity signaling cause yellow nail syndrome
- Reposted by James Fasham
- Vicente Yepez #ESHG2025 Rare Disease multi-OMICs Solvathons - a disease solving hackathon - make sure you have consent to share Integrated multi-omics in parallel is best DNA-RNA & DNA-proteomic parallel approaches both ⬆️ diagnoses 10-15% (many refs)
- 👏Thanks to our panel You *were* the workshop ☺️ ESHG2025
- Here is the panel. @jamesfasham.bsky.social, @zornitza.bsky.social, @ritabmatos.bsky.social, @psychgenomics.bsky.social, @aleenamolbio.bsky.social. I am missing a few handles, please add them.
- 🖼️ Best view in the meeting is from the Speaker Centre
- Don’t forget to upload your slides to the system! You’ll get a QR code instantly, and the whole process is super seamless, done in under 5 minutes. Bonus: you get to enjoy the view while you wait. #ESHG2025
- Reposted by James FashamDon’t forget to upload your slides to the system! You’ll get a QR code instantly, and the whole process is super seamless, done in under 5 minutes. Bonus: you get to enjoy the view while you wait. #ESHG2025
- Matchmaker Exchange - 10 years! And some stats. #eshg2025
- Reposted by James FashamSo basically, not behaving like this is twitter
- Reposted by James FashamLast day of #ESHG25 #ESHG2025, make sure to catch two fantastic back-to-back talks from @hls.exeter.ac.uk @drghawkes.bsky.social describing whole genome association analysis and meta-analysis across >500,000 people (Tuesday 11:15 & 11:30, C32)
- Reposted by James Fasham#ESHG2025 now on in Gold: always wonderful to listen to Kym Boycott and the evolution of gene discovery #raredisease
- Kym Boycott #ESHG2025 Disease-Gene discoveries are falling 😲 Don't tell @DiseaseGenes bot! 🤖 #MorbidGene In all seriousness, I suspect that conditions associated with each gene are growing - we are in a phase of understanding of gene pleiotropy
- Kym Boycott #ESHG2025 What is matchmaking One? Two? Zero? sided Why do we do it (see the photo below ☺️) 👍👍@deciphergenomics.bsky.social second largest contributor to MatchMaker Exchange ❓sadly, 94% of genematcher entries have no phenotype DECIPHER is much better
- Another great Exeter talk from @jingzhan.bsky.social today at 11:30
- 11:30 Tuesday @Space1+2, come and join my talk with C34.03- combining the GRS/PRS🧬 and PSA🩸test results together to predict the prostate cancer #eshg2025
- Reposted by James Fasham11:30 Tuesday @Space1+2, come and join my talk with C34.03- combining the GRS/PRS🧬 and PSA🩸test results together to predict the prostate cancer #eshg2025
- Got a big showing of talented University of Exeter scientists with talks and posters at ESHG25 in Milan. Come along and find out more! @hls.exeter.ac.uk @exeter.ac.uk #ESHG25 @jamesfasham.bsky.social @jingzhan.bsky.social @ambermluckett.bsky.social @chundru.bsky.social @harrygreentkd.bsky.social
- 👀 well worth watching back if you missed it
- It's time!!! An entire session of #eshg2025 on snRNA genes ❤️🤓
- This was great! Thanks to speakers, the panel and the audience who all contributed their experiences and insights
- #ESHG2025: has social media broken scientific knowledge sharing? Come and join us at Sequencing Square at 1415! @jamesfasham.bsky.social @psychgenomics.bsky.social @ritabmatos.bsky.social
- Reposted by James FashamJoin us for social media workshop #eshg2025
- Reposted by James Fasham#ESHG2025 Sequencing square @jamesfasham.bsky.social @aleenamolbio.bsky.social (virtually) running a workshop on the use of Social Media in Science; asking the question: "Has social media broken scientific knowledge sharing?" Join to find out more! #Socialmedia #Science #Genomics
- Reposted by James FashamFarewell @eshg.bsky.social #eshg2025 That conference was superb - sorry to miss the last day but needs must. The science in the conference has improved by orders of magnitude over the last decade.
- Great to have you here @nickywhiffin.bsky.social! Safe travels ☺️
- Thank you Milan and #eshg2025, you have been fab! Getting out early as two back-to-back meetings is a little too intense for me. Great to catch up with so many, and sorry to everyone I missed this time out. Looking forward to being back in my own bed!
- Reposted by James FashamSo proud of this great team from Sheffield Diagnostic Genetics Service sharing some our work at #ESHG2025 with 8 posters accepted across Rare Disease, Cancer and Bioinformatics 👏🧬🙌🤩 #NHS #genomics #STP
- Mirjam Plantinga #ESHG2025 Ethical, Legal and Social Implications of reanalysis - a review ❓What does reanalysis mean? (See slide) Differentiate - Reanalysis, Reinterpretation, Reclassification Reanalysis of what? Cost effective?
- Reposted by James Fasham#ESHG2025 day 3 Prof Zornitza Stark presenting interesting data using Talos, an open source automated tool, in large scale genomic data reanalysis: • 86% of known in scope diagnoses • >250 new diagnoses from a cohort of 4,735 undiagnosed cases • ~ 30% from new gene-disease relationships
- 👀@geneticbill.bsky.social has entered the building! #ESHG2025
- Zornitza Stark @zornitza.bsky.social #ESGH2025 🤖 TALOS automatically and iteratively re-reviews genomes and exomes (including CNVs/SV on historic data) focus on specificity - only 0.7 candidates /trio Diagnostic yield is 5%, 248/4,744 - higher in older cases 9% 2019 4% 2022
- The band are warming up for tonight! 🎸🎶 #ESHG2025
- Starting soon ☺️
- Looking for a workshop at 14:15? #ESHG2025 Since you're currently reading this, how about... "Has social media broken scientific knowledge sharing?" - subject experts, lively debate, audience engagement 📍 Sequencing Square (↗️ turn right as you enter exhhibitor hall)
- Nicola Whiffin @nickywhiffin.bsky.social #ESHG2025 Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders Saturation mutagenesis outperforms CADD Novel *AR* NDD with neuroradiological features (below) - ~30 families #MorbidGene
- Kartik Chundru (Exeter) @Chundru.bsky.social Comprehensive characterisation of non-coding and coding effects of de novo mutations in a large-scale rare disease case-control cohort Trios from GEL, UKB & AllOfUs Highlight RNU non coding variants & splice site #ESHG2025
- Looking for a workshop at 14:15? #ESHG2025 Since you're currently reading this, how about... "Has social media broken scientific knowledge sharing?" - subject experts, lively debate, audience engagement 📍 Sequencing Square (↗️ turn right as you enter exhhibitor hall)
- Sébastien Küry #ESHG2025 Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies
- 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....
- ⛓️💥Late breaking abstracts - always a great session - Space 3 #ESHG2025 Zohreh Fattahi A new role of the deubiquitinase CYLD for mitochondrial function and integrity- promising therapeutic impact for the treatment of neurodegenerative diseases
- Next up in #gNBS at #ESHG2025 Wendy Chung (Guardian study) Variant-Phenotype(-Penetrance) need to be considered. Gene-Disease too simplistic SCN1A challenging, often inherited Recessive disease is tricky (in trans?) gnomAD concurrence is helpful
- Reposted by James FashamKathryn McGurk: Penetrance of secondary findings in inherited cardiomyopathies. - Bluesky exchange on the slides - Pathogenicity vs penetrance - Estimates of prevalence are uncertain - Men have increased penetrance -Cut-off for high/medium/low penetrance? #ESHG2025
- Both your arguments are highly compelling @chundru.bsky.social ! 😂 I'll be there
- I will be talking today in Space 3. The session starts at 10:30, my talk will be at 11:15 Come join if you are interested in de novo mutations, non-coding genome, rare disease, or just up for seeing @nickywhiffin.bsky.social talk about RNU4-2 saturation mutagenesis after me 😂 #ESHG2025
- Reposted by James FashamWhat types of variants are most commonly missed? #eshg2025
- Reposted by James FashamAt #ESHG25, make sure to hear the fantastic @chundru.bsky.social speak about characterizing genome-wide de novo mutations in control populations versus rare disease cases (Monday 11:15, C29), part of the work we're doing in paradigmgenomics.org
- @zornitza.bsky.social opening a well-attended Newborn Screening session with a talk on choosing conditions Subjectivity in application of widely agreed inclusion criteria leads to small overlap (55 genes) pubmed.ncbi.nlm.nih.gov/38275146/
- Looking for a poster? Have a look at P14 002.B and then message me! I would love to discuss! 🧠 New degenerative neurological condition 4️⃣ Caused by a triplication on 16p 🔁 Mediated by a palindromic repeat #ESHG2025
- Thanks for capturing this and thanks to the workshop organiserat #ESHG2025☺️ DECIPHER is an amazing example of how keeping genomic data patient centred makes it better! That is all 🎤 @deciphergenomics.bsky.social (COI see my bio)
- James Fasham is introducing DECIPHER at the Tools for clinical genome interpretation session. I'm afraid that despite his impressive multitasking skills, he is not able to present and post at the same time... #ESHG2025
- Reposted by James FashamPeter Robinson introducing some of my favourite tools : HPO, Exomiser, Phenopackets, GPSEA. #ESHG2025
- I love #ESHG2025 it's a kind place ☺️
- Doesn't get much better than learning about @deciphergenomics.bsky.social from experts like @jamesfasham.bsky.social at #ESHG25! 🤓🍦
- 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...
