NHS Genomic Medicine Service
@NHSgms
Information for and from the NHS Genomic Medicine Service 🧬 #Genomics. http://england.nhs.uk/publication/ac…
#RareDiseaseDay is also a time to recognise the challenges faced by those living with rare conditions and to highlight the incredible advances helping the most critically ill children find answers sooner 🧬🧬#RareDiseaseDay @SWGLH @RDExeter
Thank you @SarahWynn CEO of Unique for joining us this #RareDiseaseDay to talk about how the GMS is helping to reduce the diagnostic odyssey for so many families 🧬 vimeo.com/1056483444/e63…
This is the 10 Year Health Plan to get the NHS back on its feet, and make it fit for the future. ➡️ gov.uk/government/pub…

Starting at 2.45 in the life sciences and research theatre at #NHSConfedExpo come and hear @CSOSue and others talking about how genomics can support the three shifts of the 10 year plan.
The #NHS GMS is the first in the world to roll out ‘revolutionary’ blood tests for cancer patients. Prof Dame Sue Hill @CSOSue said: “This is a great example of the NHS harnessing the power of #genomics to enable targeted cancer treatments." england.nhs.uk/2025/05/nhs-fi…

What is genomics & why is it relevant to you? Join our Lunch & Learn series on May 20th from 1-1:45pm. In this engaging, accessible webinar, we’ll show you how genomics connects to your practice, no matter your specialty. Register now at bit.ly/4i2YNmH @SEgenomics

Enhancing AI knowledge, promoting best practice, The AI Knowledge Repository is now live! This new resource suite will help empower all working within health and social care to embed responsible, ethical and sustainable AI into NHS services to improve care digital.nhs.uk/services/ai-kn…

Today is DNA Day!🧬 To celebrate we wanted to share Maisie's story. Maisie genetic diagnosis helped everything to start making sense. Her mother, Charlotte, shared her daughter's story with us and you can read it here: lnkd.in/eFhJAwDP @charlotte_doody @NHSgms
Yesterday I met with healthcare scientists from across the NHS about the 10 Year Health Plan, which offers a chance for us to transform the future of the NHS. Insights gathered will add to the thousands of views already heard. Add your views by 14 April change.nhs.uk/en-GB/projects…
Evaluating AI impact and value, AI in cardiology, technical assurance of AI and more - the AI Ambassador Network meeting 2 April 2025, 10.30-11.50. Book your place: bit.ly/4hqpoKJ
We're marking #InternationalWomensDay with a webinar on genomics in women's health. Join us on 14 March to learn about topics such as ovarian cancer, healthy mastectomy and prenatal screening, as well as the history and future of women in #genomics ♀️🧬
Today is Rare Disease Day, and the theme for this year is 'more than you can imagine', which aims to highlight the impact rare conditions can have on a person's sense of self, relationships and wellbeing. Read more: ow.ly/UrtE50UZgVN #RareDiseaseDay #MoreThanYouCanImagine
Rare conditions are individually rare but collectively common, with over 3.5 million people in the UK living with a rare condition. 1 in 17 people are affected by a rare condition at some point in their lives. #RareDiseaseDay2025 #genetics #genomics #MTYCI @GeneticAll_UK
It's #RareDiseaseDay! To mark this important day, we're launching two new Bitesize education resources for healthcare professionals: 'What is a rare disease?' buff.ly/41yn5Qr and 'What is the diagnostic odyssey?' buff.ly/3DnMqmJ #DaretoThinkRare #ShowYourStripes
Generously sharing personal stories like Ben, Amanda and Rich's story helps to raise awareness of life with a rare condition - and how that awareness can help the wider community support and show their love to people with rare conditions @dhsc
A complicated journey with lots of love and cuddles ❤️ Amanda and Rich Cole describe life with Ben, who has the rare genetic disorder Malan syndrome. Our Rare Diseases Action Plan is improving care, treatment and research for rare conditions. #RareDiseaseDay @GeneticAll_UK
Today on Rare Disease Day, we're sharing Kirsty and her Mum Claire's story about being diagnosed with a rare genetic condition. Read their story bit.ly/4h2PAdi We're very grateful to Claire & her family who help us to help raise awareness & understanding about genomics
On #RareDiseaseDay, meet Kirsty who has Okur Chung Neuro Developmental Syndrome. She's one of only 30 people in the UK with the condition. Although rare diseases are individually rare, they are collectively common. Learn more about support and diagnoses ➡️genomicseducation.hee.nhs.uk/genotes/knowle…
Great to see @NottmBRC at @nottmhospitals QMC reception today to help raise awareness on #RareDiseaseDay2025 If you’re at the QMC today, pop by to find out more - you can even pick up some stripey socks and #ShowYourStripes for @MedicsForRare @NottmBRCMSIR @ResearchNuh
Our team has been busy promoting #RareDiseaseDay research today. @NottmBRCMSIR theme manager Dr Suzanne Miller has been running a #RareDisease information stand with LAM nurse specialist Hollie Gorensweigh buff.ly/4h2JjhK @East_Genomics
For Tabitha and her family, a diagnosis of ectodermal dysplasia through the SWGMS has provided answers, access to specialist advice, and the right support. Watch her story here: #RareDiseaseDay
We are participating in #ShowYourStripes for #RareDiseaseDay. Rare diseases are collectively common, affecting 3.5 million people in the UK. So, when you hear hooves, think zebras. Find out more about this day via: @rarediseaseday
TODAY IS RARE DISEASE DAY! 🦓 🥳 To mark the day, we are proud to present #MoreThanYouCanImagine: an anthology of rare experiences' - a collection of creative experiences from individuals within the genetic, rare, and undiagnosed communities. 👉 ow.ly/PCki50V7I9u