Exeter Rare Disease

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Exeter Rare Disease

Exeter Rare Disease

@RDExeter

Prof Emma Baple & team @ExeterMed defining the genomic & molecular basis of rare diseases. https://t.co/tOiyuM6pYT

University of Exeter Katılım Ocak 2020
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Exeter Rare Disease retweetledi
Unique
Unique@Unique_charity·
Between 2024-2025 the Unique team were involved in 13 academic papers, covering topics like benefits, harms and costs of genomic newborn screening, promoting timely and equitable access to rare disease genomic testing and more! We're always looking for ways to raise awareness!
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Exeter Rare Disease
Exeter Rare Disease@RDExeter·
We are looking to bring new talent and clinical academic leaders to Exeter and the South West. Freedom to explore your research ideas in a wonderful setting, do get in touch for an informal discussion @UniofExeter
James Fasham@JamesFasham

Clinical Academic opportunities in Genomic Medicine (Senior Lecturer & Professor). Joint University of Exeter / Royal Devon posts, embedded in the NIHR Exeter BRC and the new SW Clinical Genetics Service. 📅 Apply by 22 March 2026 🔎 jobs.exeter.ac.uk | Genomic Medicine

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NHS Genomic Medicine Service
NHS Genomic Medicine Service@NHSgms·
Thank you again for attending the NHS Genomic Healthcare Summit 2025🙏 📢 We'd love to hear your feedback or suggestions as we look ahead for planning next year. Leave a comment below or DM us directly to share your thoughts! 💬 #NHSGenomics2025 #NHSGHS
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alistair pagnamenta
alistair pagnamenta@alistairp2011·
Haplotype studies and the use of a nearby tagging variant confirm a founder origin for an intragenic CYP11B1 inversion - go.shr.lc/4aVSv8j
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NHS Genomic Medicine Service
NHS Genomic Medicine Service@NHSgms·
⌛There is still time to join the Genomics Clinical Reference Group (CRG) patient and public voice (PPV). 3 partners are needed to help inform and shape the future of the NHS GMS. 📅Closing on Friday 12 December 2025. DM or email england.genomics@nhs.net to find out more.
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James Fasham
James Fasham@JamesFasham·
Amicia Phillips challenging traditional definitions of 'actionability' in the context of genomic #newbornscreening #ICoNS25
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Jacob Day
Jacob Day@DrJacobDay·
Thanks @UKHSPGroup for having me at your regional meeting on Saturday! It was great to talk about the HSP research at @ExeterMed and hear lots of interesting thoughts / questions.
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Siddharth Banka
Siddharth Banka@smbanka·
This will improve diagnosis & treatment for thousands of patients 🌍 👏🏼 Amazing @adam_jackson89 👍🏼 @NishiThake91821 @DrABlakes 🙏🏼all collaborators @mft_iMRare @MFT_Research @ManchesterBRC @EGS_UoM @FBMH_UoM @EpiGenRare @RDRUKHub @Unique_charity nature.com/articles/s4158… 🧬
Adam Jackson@adam_jackson89

We are excited to share our new paper out today in Nature Genetics which explores de novo mutations in DNA secondary structure and identifies two novel #diseasegenes nature.com/articles/s4158…

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Hannah Robinson 🧬☀️
Hannah Robinson 🧬☀️@DrHKRobinson·
@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
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Professor Dame Sue Hill
Professor Dame Sue Hill@CSOSue·
As we approach the year's end, I want to say a heartfelt thanks to the NHS healthcare science community and I hope you can take a break over the festive period. Please know that your contributions are deeply valued and we look forward to 2025 being another groundbreaking year.
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James Fasham
James Fasham@JamesFasham·
👀 our advert is also in the Christmas BMJ (see my previous post or DM me for details)
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Exeter Rare Disease
Exeter Rare Disease@RDExeter·
Come & join us as a Consultant in the exciting new South West Clinical Genetics Service, supported by the phenomenal @SWGLH Exceptional opportunities to develop specialist clinics and academic interests all in a beautiful part of the world. @swynn_unique @ExeterBRC @ExeterGenomes
James Fasham@JamesFasham

👀 Consultant job advert👇 Come and work with us in the beautiful South West of England. Home of 🌊🌳and world leading 🧬 (@BristolUni @ExeterBRC @SWGLH and @ExeterGenomes) Please DM me if interested, Im happy to answer any questions / arrange a meeting with our leads 🙂.

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NHS Genomic Medicine Service
NHS Genomic Medicine Service@NHSgms·
"We should absolutely aim to lead the world.  But we must also ensure we aren’t leaving behind any of our own patients. That was a central commitment of the Accelerating Genomic Medicine strategy." @AmandaPritchard @NHSEngland tells #NHSGenomics2024 in her opening speech
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Keşfet

@UniofExeter @AJHGNews @UKHSPGroup @ExeterMed @alistairp2011 @SureshSomarathi @LaughingGenome @smbanka