Caroline Wright
@carolinefwright
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Academic research scientist in human genetics & genomic medicine; pianist, composer, hiker & outdoor enthusiast
UK
Joined November 2014
Probably my last tweet... if you haven't made the switch yet: "Bluesky is much better for science. There is much less toxicity, misinformation, and distractions." https://t.co/QHjNDsYX2g
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Lots of genomics people over on BlueSky 🦋 - come and join us!
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Important ongoing work curating G2P gene-disease relationships with mechanism and mode of inheritance, @HelenVFirth @deciphergenomic @emblebi. Numerous panels available to download.
genomemedicine.biomedcentral.com
Genetically determined disorders are highly heterogenous in clinical presentation and underlying molecular mechanism. The evidence underpinning these conditions in the peer-reviewed literature...
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Superb finale to #BSGM2024! @EllardSian sharing inspiring stories from an impressive career dedicated to advancing #Genomics, championing multidisciplinary best practice, education and training @BritSocGenMed @acgs_news #ExeterDiabetes 👏
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Super away day with the Rare Variants team @ExeterMed today - interesting scientific discussions and a beautiful walk along the Teign valley in gorgeous Autumn sunshine!
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Amazing coverage of DDD study on BBC News & BBC Inside Health, thanks @JamesTGallagher. Genetic diagnosis changed management in 28% of patients. Humbling to hear about Jaydi's diagnosis & treatment, @ExeterMed @RoyalDevonNHS @SWGenomics @sangerinstitute
bbc.co.uk
How gene analysis is impacting treatment and care for children with rare genetic disorders
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Pseudo-natural history made from dozens of DDD patients with the same genetic condition, expertly done by @drkarenlow. Highlights phenotype variability and differences in onward referrals, see https://t.co/0aCfnZyUuR
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Jaydi’s bone marrow transplant may have saved her life. She’s among thousands to benefit from a genetic study which diagnosed children with rare genetic conditions. Read more on the Deciphering Developmental Disorders study outcomes: https://t.co/gJZ641bHBK
@sangerinstitute
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Thank you to the many clinicians, scientists, patients and families involved in the DDD study, @sangerinstitute @HelenVFirth @mehurles. A genetic diagnosis in rare diseases makes a huge difference to clinical management and patient outcomes, see: https://t.co/0aCfnZyUuR
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Today we celebrate the 5 year anniversary of the NHSE R14 service - that went live October 1st 2019🧬 The service has grown since then - now offering rapid testing to 1200 families per year by whole genome sequencing on the first NovaSeq Xp to be installed in the NHS 🧬⭐️🧬⭐️
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The @acgs_news position statement: Rare disease genomic testing in the UK and Ireland: promoting timely and equitable access, is online https://t.co/rwujz5zKiz Collaborative best practice guidance involving @Unique_charity @NHSgms @WalesGenePark
@GeneticAlliance @GenQA & others🧵
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New paper in @AJHGNews investigating the phenotypic spectrum of dual diagnoses in developmental disorders - doubly unlucky patients with two independent genetic conditions. Lovely work from two @ExeterMed students, plus @kartikchundru @HelenVFirth. https://t.co/RtrCiwErbx
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I'm very excited to have our work on recessive developmental disorders published at @NatureGenet! See here for the tweetorial ( https://t.co/2CbNHkPyxV). There were some exciting updates during the reviews which I'll highlight here... (1/n) https://t.co/fY7iccdfxU
sanger.ac.uk
Researchers assessed the role of recessive genetic variants in developmental disorders, suggesting reanalysis of genetic data could improve understanding and diagnosis of conditions for millions of...
Our work describing the recessive coding contribution to developmental disorders across genetic ancestry groups is on medRxiv! We combined research (Deciphering Developmental Disorders) and industry (@GeneDx) data to look at the effect of recessive variants in 29,745 trios! (1/)
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In our latest work, we explore the contribution of rare, typically inherited, damaging genetic variants to the risk of severe developmental disorders (DDs) and establish a major role for incompletely penetrant rare variation. Now out on medRxiv: https://t.co/NnB3bUr8bS
medrxiv.org
While the role of de novo and recessively-inherited coding variation in risk for rare developmental disorders (DDs) has been well established, the contribution of damaging variation dominantly-inhe...
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Feeling inspired after some brilliant music-filled days at Chethams International Piano Summer School. Strongly recommend!! Many thanks to other participants, fantastic organisers @chethampiano @MurrayMcPiano, and my fabulous teachers @kathystott @AdamSwayne @douglas_finch
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Interested in penetrance? Read our new "Guidance for estimating penetrance of monogenic disease-causing variants in population cohorts" in @NatureGenet - including top 10 tips for avoiding errors! Link to paper https://t.co/zyDrpUdOkZ and full PDF https://t.co/vbqMbMaIfU
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So excited that our paper “De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome” is out today in @Nature
https://t.co/FeDLGm14MB 🧵 1/16
nature.com
Nature - The non-coding RNA RNU4-2, which is highly expressed in the developing human brain, is identified as a syndromic neurodevelopmental disorder gene, and, using RNA sequencing, 5′...
(1/4) I’m delighted to announce that our research on RNU4-2 is now out on @Nature . This is an exciting finding that will bring many diagnoses worldwide. We have updated some new results since the preprint:
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Our @TheACMG WG will give guidance on when labs should and should not report VUS, including the use of VUS subclasses coming in the next Sequence Variant Classification guidelines. Please share your opinion on VUS reporting through our <10 min survey
docs.google.com
The ACMG/AMP/CAP/ClinGen SVC v4.0 standards for sequence variant classification will soon be released and provide an easy framework for subclassifying variants of uncertain significance (VUS) by...
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Revisiting this fantastic video by @ExeterMed 📺 Meet Professor Emma Baple and @DrHKRobinson and learn more about the pioneering work of our fantastic professionals developing and delivering world-leading #GenomicServices 🧬 #GenomicsConversation @RDExeter @ExeterGenomes @SWGLH
We're proud to be shortlisted for @timeshighered's University of the Year award. Our people are at the heart of our strategy & make a huge difference to the world around us, such as Prof Emma Baple who conducts world-leading research into genomic medicine. https://t.co/0zJTCb3HuG
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What an evening in North Cornwall😀. Imagine working somewhere with this on your doorstep. @uniofexeHLS currently recruiting for genomics and data science faculty posts. https://t.co/4pacwbqnIJ. Please RT.
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