Lewis Pang

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/article/d…

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

@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

Clinical Scientist Dr Hayley Lees is here to discuss rapid genomic testing in newborns and transforming clinical care and informing the Generation Study. #BAPM2024

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

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

🤗 Absolutely thrilled to see our #AcuteCare ⁦@AusGenomics⁩ work featured ⁦@Nature⁩ together with ⁦@ExeterGenomes⁩ ⁦@RadyGenomics⁩ ⁦@euanashley⁩ 🧬⏱️🤗 nature.com/articles/d4158…

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

@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

Next up is Lewis Pang with a presentation on Biallelic HEATR5B variants cause pontocerebellar hypoplasia #acgs2023 #genomics

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-ra… @DrHKRobinson @LewisGenomics @DrHayleyLees

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

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

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

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

🌟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/genetics/genom… #GenomicsConversation @SWGLH @SWGenomics @NHSgms

Looking forward to our 2 day R14 educational workshop tomorrow ⭐️ @DrHKRobinson @RDExeter @SWGenomics @SWGLH @NHSgms @JamesFasham @LewisGenomics @DrHayleyLees

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!

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-…

Mid-week pick me ups for @ExeterGenomes team! Thanks @RDExeter 🥰