Exeter Rare Disease

Prof Emma Baple & team @ExeterMed defining the genomic & molecular basis of rare diseases.

[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!

[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
🔎 https://t.co/0hJbgUk3kH | Genomic Medicine

[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

[alistair pagnamenta @alistairp2011]

Haplotype studies and the use of a nearby tagging variant confirm a founder origin for an intragenic CYP11B1 inversion - https://t.co/QGW1HkUJEe

[Stefan Barakat @StefanBarakat]

happy to have contributed with our group to this very fascinating paper on a new disease mechanism for a neurodegenerative disorder #genetics @AJHGNews #raredisease

[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 [email protected] to find out more.

[James Fasham @JamesFasham]

Amicia Phillips challenging traditional definitions of 'actionability' in the context of genomic #newbornscreening #ICoNS25

[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.

[Genetics in Medicine @GIMJournal]

More than meets the eye. Non-canonical #FBN1 splice variants may account for ~3% of families with undiagnosed #FTAAD. https://t.co/tPYCvM0Sgo #Marfansyndrome @alistairp2011 @SureshSomarathi @LaughingGenome @smbanka @JamesFasham @ProfDBaralle @RDExeter @GenomicsEngland

[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
https://t.co/WMsMONvaRa
🧬

[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

[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.

[James Fasham @JamesFasham]

👀 our advert is also in the Christmas BMJ (see my previous post or DM me for details)

[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 🙂.

[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

[NHS Genomic Medicine Service @NHSgms]

Baroness Merron (@DHSCgovuk Minister responsible for #genomics) meets with colleagues across the @nhsgms including chief execs, clinicians, patient reps and stakeholders at #NHSGenomics2024

[Siddharth Banka @smbanka]

🚨Job alert
Closing date arriving soon (2nd Dec 2024) Manchester Rare Conditions Centre Research Fellow
https://t.co/eS61wSA9MO
@mft_iMRare @MFT_Research @EGS_UoM @EpiGenRare @REOLUT @RDRUKHub @RDExeter @mern_UoM
NHS Genomics Rare and Inherited Disease Network of Excellence

[Exeter Rare Disease @RDExeter]

@swynn_unique is quite honestly my hero,fighting the good fight for #raredisease globally 🥰

[Sarah Wynn @swynn_unique]

In my quest to spread awareness of #rareconditions 🧬as far and wide as possible, I visited @10DowningStreet yesterday. While I didn’t get to meet the Prime Minsiter I did get to spend time with Larry @Number10cat!

[Exeter Rare Disease @RDExeter]

@PeterCox from @UniofExeter environmental leadership award at #THEAwards24 🥰

[Exeter Rare Disease @RDExeter]

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 👏👏