Programme News March 2024

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Raising awareness of rare disease

Thursday 29 February was Rare Disease Day, a global campaign to raise awareness of rare disease. The UK government published its 2024 Action Plan, which outlines progress made on previous plans and launches new actions for the coming year. As part of the UK Rare Disease Framework, the Genomics Education Programme has launched several resources, including the rare disease education hub, the free online course, A Clinician’s Guide to Genomic Testing for Rare Disease, and four new GeNotes resources. To find out more, head over to our news page.

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Resource of the month: GMS Hub

Are you accessing genomic testing for the first time or looking to learn more about the testing process? Visit our GMS hub, which features in-depth information and at-a-glance guides to genomic testing, as well as a range of courses and resources designed to support health professionals offering genomic tests to patients.

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Patient voices: My genomics journey

The Genomics Education Programme has developed a short film, ‘My genomics journey: Three perspectives’, that shines a light on the experiences of Isobel, Loretta and Tom, who have gone through the genomic testing process and have insights to share. You can also watch the full-length films on our Vimeo channel.

Patient event: Lynch Syndrome

NHS East Genomics is hosting a hybrid event on Monday 22 April aimed at those with a diagnosis of Lynch syndrome (LS). Attendees will hear from others with LS, receive updates from healthcare professionals on the management of LS, learn what information and support is available to patients, and take part in an interactive Q&A session. If you know anyone who would be interested, please share the event details.

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Genomics of Rare Disease conference

Wellcome Connecting Science is running its 18th Genomics of Rare Disease conference on 25-27 March 2024. The event will combine insights into recent research with advances in approaches for clinical care and includes discussions on the role of common variants in rare disease and new developments in prenatal and neonatal genomic screening. Registration is open to virtual attendees until 18 March.

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Podcast: The Road to Genome

The Road to Genome is a brand-new podcast from North East & Yorkshire Genomic Medicine Service. Listeners will hear from patients and clinical experts who share their personal stories and experiences to bring to life the science behind genomics. The series is available on via podcast platforms – or listen on their website.

NHS Parliamentary Awards 2024

Nominations for the NHS Parliamentary Awards 2024 are now open. The ten award categories include the Future NHS Award, which seeks to highlight individuals, teams and organisations that are successfully embracing advances in medical technology, data and connectivity. Find out more on the parliamentary awards webpage.

Healthcare Science Week 2024

Healthcare Science Week on 11-15 March 2024 brings together more than 50 scientific specialisms and professional groups to celebrate and raise awareness of this diverse NHS workforce. The week is an opportunity to showcase ongoing work and inspire the scientific workforce of the future. Check out the webpage to find out how you can get involved.