Amanda Skinner retweetledi
Amanda Skinner
2.5K posts
Amanda Skinner
@AmandaSkinner1
Genomics Nurse Practitioner SW Peninsular All views expressed are my own.......
Katılım Temmuz 2017
729 Takip Edilen307 Takipçiler
I'm off Twitter but just had to come back for this special day! @_SadieMitchell @sjhrhbj @AnaJuett @SWGLH @SWGenomics #Genomics #SWGenomics
NHS SW Genomic Medicine Service Alliance@SWGenomics
Today, April 26, is Undiagnosed Children’s Day, an annual awareness day founded by @GeneticAll_UK @SWAN_UK to spread the word about what it means to be affected by a syndrome without a name, also known as an undiagnosed genetic condition geneticalliance.org.uk
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Amanda Skinner retweetledi
Exeter BRC *funded* PhD
in Genetics & Genomics with @RDExeter
"Discovery & characterisation of rare neurodevelopmental disorders"
exeter.ac.uk/study/funding/…
Contact Emma Baple / Lettie Rawlins (email on site)
👇I did a similar PhD, great supervisors, I'm happy to be contacted
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Amanda Skinner retweetledi
Thank you for the invitation. Privileged to spend time with you all 👍🏼
School of Nursing and Midwifery @Derbyuni@UOD_SONM
Very inspiring talks this afternoon from @drjoanne_cooper and @GemmaStacey10 focusing on the future of nursing and midwifery research. Lots for us to think about - including the need for leadership by all of us to help along the way #nursing #research
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Amanda Skinner retweetledi
We are delighted to announce the launch of the Rare Therapies Launch Pad, a new programme that aims to develop a pathway for children with rare conditions to access therapies made specifically for them. Read more here: ow.ly/c4pS50QacVt
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Amanda Skinner retweetledi
At NCM 2023 Houston, we be hosting a data analysis workshop before the full conference!
Learn about the EPI2ME workflows: from single-cell transcriptomics and human variation, to metagenomics and assembly.
Learn more: bit.ly/45QdcN2 #nanoporeconf #ASHG23
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Amanda Skinner retweetledi
👇This is a super resource on selecting genetic tests & approaches in paediatric clinics 🧬developed by @RCPCHtweets Genomics Working Group in collab & partnership with colleagues @genomicsedu. Plus downloadable pdf. Check it out!
@McKennaGenetics, @DrEllieHay & @MelodyRedman
RCPCH@RCPCHtweets
Genetic testing and resources - the essentials for paediatricians Check out our resource in collaboration with Genomics Education Programme colleagues to support clinicians in learning about different genetic tests. 👉 ow.ly/XBbi50Q6gpY
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Amanda Skinner retweetledi
Genomics Education for Psychiatrists, hosted by @rcpsych, explores the genetic landscape of psychiatric conditions, when genomic testing is needed, and more. Book your place for this 5 December online event now at:
orlo.uk/mb4tB
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Amanda Skinner retweetledi
Amanda Skinner retweetledi
Cream then jam please...with a side of champagne 👀 So proud of our Trust. You don't have to be in the big smoke to make a big impact ❤ #HSJAwards @HSJ_Awards #RoyalDevon @SWGLH @ExeterGenomes #table107
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Amanda Skinner retweetledi
A gene therapy medicine that uses the gene-editing tool CRISPR has been authorised by medical regulators - a UK first. The treatment, Casgevy, is aimed at curing sickle cell disease and β-thalassemia. Read about genome editing and gene therapy in our blog orlo.uk/MrwRC
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Amanda Skinner retweetledi
Excited to be on my way to @HSJ_Awards with the fabulous @ExeterGenomes team!
Shortlisted for the acute sector innovation award.
Keep your fingers crossed for us 🤞
@RoyalDevonNHS @ExeterMed @NHSgms @CSOSue @athattersley @AndrewJohnStew2 @swynn_unique @DrHKRobinson
HSJ Awards@HSJ_Awards
And our first set of guests have arrived at the #HSJawards. Welcome finalists, partners, and judges!
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Amanda Skinner retweetledi
We are here! So proud to be representing our incredible team of scientists and our outstanding lab delivering the R14 rapid genome sequencing service for acutely unwell children 💥 🤞 @HSJ_Awards @ExeterGenomes @SWGLH
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Amanda Skinner retweetledi
Such a privilege to be part of this, thanks to Emma for starting our series off with the amazing story of her son Jack and @stevexoh for all his help behind the scenes @athattersley @ExeterMed @Exeter_Diabetes @RoyalDevonNHS @NHSDiabetesProg @DUK_research
NIHR Biomedical Research Centre: Exeter@ExeterBRC
It's #WorldDiabetesDay 💙and our world-leading #diabetes researchers Andrew Hattersley and @MaggieShepher13 have released the 1st episode of their new podcast series about diabetes and genes, One in Six Billion. 📻Listen to Jack's story here: 1in6b.com
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Amanda Skinner retweetledi
Communicating #genomic test results to a patient is a key part of the testing process. We’ve put together a competency framework to help you support patients and families: orlo.uk/6u8UP
#ClinicalPathways
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Amanda Skinner retweetledi
So excited to be launching our 1st podcast on #WorldDiabetesDay ! Thanks to Emma for sharing this emotional story of her amazing son Jack. Thanks also to @stevexoh for his expert help behind the scenes @athattersley @HQuinn01 @CNOEngland @carolynamills @parthaskar @ExeterMed
Exeter Med School@ExeterMed
Our experts have launched a brilliant podcast this #WorldDiabetesDay. Mum Emma talks about Jack-diagnosed with neonatal #diabetes at 2wks. His life was transformed by switching treatment after our team found a genetic cause 🎧apple.co/3QWUVcl or search "One in six billion"
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@sjhrhbj a reminder for ED&I?
Prof Cloutman-Green🕷 ([email protected])@girlymicro
Just a reminder
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Amanda Skinner retweetledi
Today we benefited from Dr Sanjay Sisodiya’s passion for treating genetic epilepsy.
Based @uclh, Sanjay encouraged us all to think about an MDT approach for genetic epilepsy treatment as well as diagnosis.
Thank you for joining us for our #epilepsy study day!
#ThinkGenomics
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Amanda Skinner retweetledi
The amazing @markmencias shares what the @StGeorgesTrust #nurse-led regional #genetic #epilepsy service is all about!
@SEgenomics @NorthThamesGLH @SigsworthJanice @CSOSue @NHSgms
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NHS SW Genomic Medicine Service Alliance@SWGenomics
Baby Reuben became critically ill at five days old, but thanks to the swift diagnosis of his genetic condition by the WGS service, he was able to receive a life-saving liver transplant and is now thriving #SWGenomics @exeter_lab @RoyalDevonNHS @UniofExeter
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