Healthcare Scientist at the Exeter Genomics Laboratory SWGLH. Delivering rapid genome sequencing for acutely unwell children @ExeterGenomes #NHS #R14

Joined December 2020
Improvements in Awareness and Testing Have Led to a Threefold Increase Over 10 Years in the Identification of Monogenic Diabetes in the U.K. diabetesjournals.org/care/ar…
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Lewis Pang retweeted
Check out this paper describing the phenotype and spectrum in TAOK related disorders from an excellent up and coming geneticist @NourElkhateeb14 and from the inspiring @MeenaBalasubra5 group
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Replying to @ExeterGenomes
@ExeterGenomes are celebrating!! The team in Exeter have been delivering diagnoses for children with rare genetic diseases since 2013. Initially as exomes, now thriving as a national rapid genome sequencing service (R14). We've just passed our 9000th family 😮🎉🥳 @SWGLH
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Lewis Pang retweeted
Clinical Scientist Dr Hayley Lees is here to discuss rapid genomic testing in newborns and transforming clinical care and informing the Generation Study. #BAPM2024
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What better excuse for a cake sale than #Rarechromday 👏 All proceeds going to the fantastic @Unique_charity 🥰 What a team of bakers we have! (Minus me 😅) @swynn_unique @ExeterGenomes @exeter_lab @SWGenomics
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So many posters, so little time! Thanks to those that came to visit mine but if you missed it you can find out more here in our commentary piece thelancet.com/journals/laneu… #ESHG2024 @ExeterGenomes @exeter_lab @SWGenomics
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Two-year-old Teddi is the first child in the UK to have life-saving gene therapy treatment for metachromatic leukodystrophy (MLD) at @MFTnhs. One year after treatment, she's showing no signs of the devastating disease and will continue to have regular check-ups. 💙 🎥: @ITVNews
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@ExeterGenomes fantastic @NHSgms R14 service lead Karen Stals at #MDC23 describing how 20% of diagnoses made in NICU/PICU involved #RareDisease conditions on the @GenomicsEngland Generation Study newborn genomes conditions list. @RoyalDevonNHS @ExeterBRC
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Lewis Pang retweeted
Next up is Lewis Pang with a presentation on Biallelic HEATR5B variants cause pontocerebellar hypoplasia #acgs2023 #genomics
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We are continuing our walking challenge for @SandsUK…..some of us have smashed 90k already 💪🏻, others need a bit more encouragement, please sponsor us if you can 🌟 justgiving.com/page/exeter-r… @DrHKRobinson @LewisGenomics @DrHayleyLees
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We are delighted to have been shortlisted for the prestigious @HSJ_Awards - the WGS service is truly transformational for children and families affected by rare genetic conditions @UniofExeter @SWGenomics @SWGLH @Unique_charity @NHSgms
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New mugs to celebrate our amazing team, a new database and 75 years of the NHS. A rare treat to all be in the office today - time for a cuppa ☕️🐐🌟 #nhs75 #R14 @DrHKRobinson @DrHayleyLees @LewisGenomics @RDExeter @SWGLH
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Happy Birthday to the NHS@75 today! To celebrate, our wonderful, hard-working and innovative team at Exeter Genomics Laboratory (@RoyalDevonNHS) attempted to fit into a team photo with some base-pairing #greatteam @ExeterGenomes @betacellgenomes @DrHKRobinson @SW_GMC @SWGenomics
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What is your stand-out moment where you have seen the power of #Genomics? We asked our brilliant #SWGenomics team - here we hear from @LewisGenomics #GenomicsConversation @SWGenomics @ExeterGenomes @RDExeter @genomicsedu
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🌟Take a look at our new web page for the R14 Rapid Genome Sequencing Service 🌟 Eligibility criteria, test ordering process and background to how data are analysed 🧬 exeterlaboratory.com/genetic… #GenomicsConversation @SWGLH @SWGenomics @NHSgms
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Looking forward to our 2 day R14 educational workshop tomorrow ⭐️ @DrHKRobinson @RDExeter @SWGenomics @SWGLH @NHSgms @JamesFasham @LewisGenomics @DrHayleyLees
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Lewis Pang retweeted
1 in 17 people in the UK are affected with a rare disease, there are 7000 different conditions and 50% are children so thank you @rarediseaseday for spreading the awareness it needs!
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Amazing to hear that Reuben is doing so well and it's wonderful that we can provide whole genome sequencing from within the NHS for acutely unwell babies and children 🌟@swglh @RDExeter @SWGenomics
On #RareDiseasesDay Eleanor and Atsushi thank NHS teams across the country who saved baby Rueben's life with a groundbreaking national genetic testing service rolled out by the NHS in October last year. Read more about their story. ▶️ england.nhs.uk/2022/10/world…
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On #RareDiseasesDay Eleanor and Atsushi thank NHS teams across the country who saved baby Rueben's life with a groundbreaking national genetic testing service rolled out by the NHS in October last year. Read more about their story. ▶️ england.nhs.uk/2022/10/world…
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Mid-week pick me ups for @ExeterGenomes team! Thanks @RDExeter 🥰
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