Prof Emma Baple & team @ExeterMed defining the genomic & molecular basis of rare diseases. https://xitter.cf/t.co/tOiyuM6pYT
University of Exeter
Joined January 2020
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Exeter Rare Disease retweeted
🧠Containing my own work on apparent penetrance TSC1/TSC2 in population biobanks published just in time for #ESHG2026
springernature.eu.qualtrics.…...
Exeter Rare Disease retweeted
🧬 Leigh Jackson (Exeter) presents multiple papers (see EJHG Special Issue ☝️ ) #ESHG2026
Penetrance of TSC, PCD, OI & RB1 across ~900,000 adults
Careful variant & phenotype curation matters
In clinically unselected populations, disease risk ⬇️ vs traditional estimates.
Exeter Rare Disease retweeted
Caroline Wright (Exeter) sharing fundamental knowledge
What does the "average" human genome look like?"
>900k 🧬 #UKB / #AllofUs
/ Genome:
1️⃣ ~4.4–5.5 million variants
2️⃣ 2–3 ClinVar P/LP (mostly AR)
3️⃣ ~62–70 de novo variants
4️⃣ ~1 in 5 people in top 1% of PRS for ≥1 disease
Exeter Rare Disease retweeted
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
Exeter Rare Disease retweeted
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!
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
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
Exeter Rare Disease retweeted
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 – at Leeds, England
Exeter Rare Disease retweeted
Haplotype studies and the use of a nearby tagging variant confirm a founder origin for an intragenic CYP11B1 inversion - go.shr.lc/4aVSv8j
Exeter Rare Disease retweeted
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…
Exeter Rare Disease retweeted
⌛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 [email protected] to find out more. – at Leeds, England
Exeter Rare Disease retweeted
Amicia Phillips challenging traditional definitions of 'actionability' in the context of genomic #newbornscreening #ICoNS25
Exeter Rare Disease retweeted
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.
Exeter Rare Disease retweeted
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
Exeter Rare Disease retweeted
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…
🧬
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…
Exeter Rare Disease retweeted
@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
Exeter Rare Disease retweeted
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.
Exeter Rare Disease retweeted
👀 our advert is also in the Christmas BMJ (see my previous post or DM me for details) – at South West, England
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
👀 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 🙂.
Exeter Rare Disease retweeted
"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
Exeter Rare Disease retweeted
Baroness Merron (@DHSCgovuk Minister responsible for #genomics) meets with colleagues across the @nhsgms including chief execs, clinicians, patient reps and stakeholders at #NHSGenomics2024
