Elizabeth Watson

Principal Clinical Scientist, HSST; NHS Renal genetics, Lipidology genetics, Bristol, UK 🧬

[South West Genomic Laboratory Hub @SWGLH]

Genetic testing for FH- Past, Present and Future, collaborative paper with @SWGLH 👇👇 Maggie Williams @biscuitgenetics and the FH team.

[Muin J. Khoury @MuinJKhoury]

The views of people with genetic conditions have been largely under-represented. This @ejhg_journal study explores the concept of seriousness through the perspectives of people with a range of ‘clinically serious’ conditions. https://t.co/CmoR6mwC9p

[South West Genomic Laboratory Hub @SWGLH]

It's #HealthcareScienceWeek

Across @SWGLH we have: Scientists, Genetic Technologists, Bioinformaticians, Health Informaticians, PTPs, STPs and HSSTs!

#wearehealthcarescientists

@bexforrester @EllardSian @RDExeter @infomagix @LaughingGenome

[Elizabeth Watson @biscuitgenetics]

@bexforrester @SWGLH Congratulations Bex!

[Elizabeth Watson @biscuitgenetics]

@LaughingGenome @LeedsHospitals @SWGLH @EllardSian @ProfRachelB Welcome aboard! I’m on maternity leave now after my baby made a surprise entrance, so catch you when I’m back!

[Unique @Unique_charity]

We've just added a new information guide on TUBA1A - associated tubulinopathy to our website at https://t.co/Gdngu3coLA. With thanks to Dr Dixit for kindly reviewing this guide for us. #TUBA1A #Genetics #Genomics

[Alport Syndrome Foundation @AlportSyndFndn]

Genetic testing is crucial for those with a suspected #Alportsyndrome diagnosis or those unsure of the exact type they have. Learn more about the no-charge KIDNEYCODE #genetictesting program: https://t.co/7mbc3MoXV2

[IPNA Ped Nephrology @IPNA_PedNeph]

Genetic testing and minimization of steroid exposure matters to avoid unnecessary immunosuppressive treatment and its side effects.

Read more in IPNA 🆓#openaccess Guidelines
➡️https://t.co/nmTuooOre7

#SRNS #nephroticsyndrome #CKD @SpringerNature

[Elizabeth Watson @biscuitgenetics]

@becky_lew What are you thinking will take the crown? My vote is for the most beautiful and powerful of all chromosomes - the X! #ChromosomeClash

[Elizabeth Watson @biscuitgenetics]

@becky_lew So this is an easy #ChromosomeClash round for both of us then. Looks aren’t everything, chr16!

[Elizabeth Watson @biscuitgenetics]

Chromosome 16 vs 11? Blimey that’s a tough one. 16’s pretty but 11 has style... let me just have a think what their gene highlights are. @becky_lew want to help me? #ChromosomeClash

[Elizabeth Watson @biscuitgenetics]

@becky_lew TRPC6 is on chromosome 11 and that’s one of favourites. What are your chr16 favourites?

[Elizabeth Watson @biscuitgenetics]

Yessss! This is my kind of fun! Thanks @becky_lew for bringing this to my attention. Sorry to have missed the first few rounds.

[ASHG @GeneticsSociety]

In a close match, #chromosome 22 pulled out a win against chromosome 7! We loved seeing your #GENEfacts about your favorite chromosomes, so keep it up and vote in today's #ChromosomeClash match.

[Amanda Pichini @AmandaPichini]

Today is the last day to complete the survey - if you are a healthcare professional involved in requesting genomic testing for patients, have your say!

[Elizabeth Watson @biscuitgenetics]

Fabulous opportunity for me to collaborate with @asheetagupta to share our experiences of the changing landscape of genetic testing in patients with inherited renal disease #BAPN2020

[BAPN @BAPNnephrology]

Elizabeth Watson: describes the reorganisation of genetic diagnostic services in the UK. Test directories and panels are available online at
https://t.co/E9IqnRSDWP
#BAPN2020 @GenomicsEngland

[South West Genomic Laboratory Hub @SWGLH]

Interested in joining the scientist team at based at Bristol Genetics Lab in the @SWGLH Band 7 post adverts open now with closing date 14th Feb https://t.co/mUsV8l0Hbo

[Amanda Pichini @AmandaPichini]

The NHS South West Genomics Laboratory Hub is now on twitter! 😊 @NHS_SWGLH

@genomicsedu @NHSgms @GenomicsEngland @exeter_lab @SW_GMC @100k_WEGMC

[Elizabeth Watson @biscuitgenetics]

@RLWczyk @Lennon_Lab @nikkikoudis Happy Birthday Rachel! Fantastic cake!

[Sinead Stoneman @Stones__]

A noninvasive urinary immunohistochemistry test identified
MUC1fs protein in those who were negative for MUC1 27dupC mutation.

This study also identified 5 novel mutations in VNTR in MUC1.

https://t.co/9Y4T8Qq6SA

#IrishNeph

[Sinead Stoneman @Stones__]

Nomenclature as per KDIGO.

Clinical classification depending on causal gene. Genetic aetiology unclear in 40% of cases.

MUC1 is most common cause of ADTKD and hardest gene to sequence - not possible to do routinely.

https://t.co/QiuAYF9BBO

#IrishNeph