Joined January 2020
- Tweets 1,086
- Following 1,170
- Followers 1,625
- Likes 3,139
62 Photos and videos
Exeter Rare Disease retweeted
Jun 12
For the 2nd year running I am representing the sleepy Devon town of Ivybridge 🙄
I also claim affiliations with the
*Exeter Genomics powerhouse*
- 38 presenters at #ESHG2026!
**We are recruiting**
Clinical geneticists
- academic and non-academics
Would love to chat 😊
ALT ESHG badge
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Exeter Rare Disease retweeted
Feb 13
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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Feb 15
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
Feb 10
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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Exeter Rare Disease retweeted
18 Dec 2025
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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Exeter Rare Disease retweeted
19 Dec 2025
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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Exeter Rare Disease retweeted
6 Dec 2025
happy to have contributed with our group to this very fascinating paper on a new disease mechanism for a neurodegenerative disorder #genetics @AJHGNews #raredisease
📣New from @RDExeter
📄Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxia
cell.com/ajhg/fulltext/S0002…
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Exeter Rare Disease retweeted
4 Dec 2025
⌛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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Exeter Rare Disease retweeted
24 Oct 2025
Amicia Phillips challenging traditional definitions of 'actionability' in the context of genomic #newbornscreening #ICoNS25
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Exeter Rare Disease retweeted
21 Oct 2025
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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Exeter Rare Disease retweeted
7 Jul 2025
More than meets the eye. Non-canonical #FBN1 splice variants may account for ~3% of families with undiagnosed #FTAAD. bit.ly/3IhIN48 #Marfansyndrome @alistairp2011 @SureshSomarathi @LaughingGenome @smbanka @JamesFasham @ProfDBaralle @RDExeter @GenomicsEngland
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Exeter Rare Disease retweeted
29 May 2025
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/s41588-0…
🧬
29 May 2025
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/s41588-0…
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Exeter Rare Disease retweeted
29 Jan 2025
@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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Exeter Rare Disease retweeted
23 Dec 2024
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.
ALT Image of Professor Dame Sue Hill smiling to the camera with the quote from the post as text.
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Exeter Rare Disease retweeted
23 Dec 2024
👀 our advert is also in the Christmas BMJ (see my previous post or DM me for details)
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17 Dec 2024
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
13 Dec 2024
👀 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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Exeter Rare Disease retweeted
12 Dec 2024
"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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Exeter Rare Disease retweeted
12 Dec 2024
Baroness Merron (@DHSCgovuk Minister responsible for #genomics) meets with colleagues across the @nhsgms including chief execs, clinicians, patient reps and stakeholders at #NHSGenomics2024
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Exeter Rare Disease retweeted
28 Nov 2024
🚨Job alert
Closing date arriving soon (2nd Dec 2024) Manchester Rare Conditions Centre Research Fellow
mft.nhs.uk/careers/search-ap…
@mft_iMRare @MFT_Research @EGS_UoM @EpiGenRare @REOLUT @RDRUKHub @RDExeter @mern_UoM
NHS Genomics Rare and Inherited Disease Network of Excellence
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28 Nov 2024
And @GeneticBill and @John_H_McD are the winners. All is fair in love and xxxx. Well done @mft_iMRare @nwgmsa really pleased for you 👏👏
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28 Nov 2024
Agh clearly I meant @nwgmsa! Let's just say the wine is flowing.....sorry Manchester team 🤣
28 Nov 2024
So pleased to be here with the @NorthThamesGMS team at the #THEAwards24 celebrating the power of Genomic Medicine to change lives k
@NHSgms @Unique_charity @GenomicsEngland
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