Exeter Rare Disease @RDExeter X Profile

Exeter Rare Disease

@RDExeter

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

University of Exeter

Joined January 2020

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Exeter Rare Disease

@RDExeter

6 days

RT @GIMJournal: More than meets the eye. Non-canonical #FBN1 splice variants may account for ~3% of families with undiagnosed #FTAAD. https….

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Exeter Rare Disease

@RDExeter

1 month

RT @smbanka: This will improve diagnosis & treatment for thousands of patients 🌍 .👏🏼 Amazing @adam_jackson89 .👍🏼 @NishiThake91821 @DrABlake….

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Exeter Rare Disease

@RDExeter

5 months

RT @DrHKRobinson: @ExeterGenomes are celebrating!! The team in Exeter have been delivering diagnoses for children with rare genetic disease….

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Exeter Rare Disease

@RDExeter

7 months

RT @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….

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Exeter Rare Disease

@RDExeter

7 months

RT @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

@RDExeter

7 months

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

7 months

👀 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

@RDExeter

7 months

RT @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 wa….

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Exeter Rare Disease

@RDExeter

7 months

RT @NHSgms: Baroness Merron (@DHSCgovuk Minister responsible for #genomics) meets with colleagues across the @nhsgms including chief execs,….

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Exeter Rare Disease

@RDExeter

8 months

RT @smbanka: 🚨Job alert.Closing date arriving soon (2nd Dec 2024) Manchester Rare Conditions Centre Research Fellow ..

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Exeter Rare Disease

@RDExeter

8 months

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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Exeter Rare Disease

@RDExeter

8 months

Agh clearly I meant @nwgmsa! Let's just say the wine is flowing. sorry Manchester team 🤣.

Exeter Rare Disease

@RDExeter

8 months

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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Exeter Rare Disease

@RDExeter

8 months

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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Exeter Rare Disease

@RDExeter

8 months

So pleased to be here at the #THEAwards24 celebrating the work we have been privileged to do with the Amish communities aiming to reduce genomic healthcare inequalities for families affected by #raredisease.

Exeter Rare Disease

@RDExeter

8 months

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Exeter Rare Disease

@RDExeter

8 months

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Exeter Rare Disease

@RDExeter

8 months

RT @Unique_charity: "Equitable access to timely genomic testing for people affected by rare diseases is essential. " .Our CEO @swynn_uniqu….

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Exeter Rare Disease

@RDExeter

8 months

Phenomenal achievement @rbamford5 👏 👏👏.

Jonathan Mill

@PsyEpigenetics

8 months

HUGE congratulations to @rbamford5 who received a ASHG Research Excellence Trainee award at #ASHG24 #ASHG2024. What an amazing achievement! @UniofExeter @uniofexeHLS @ExeterNeuro @ExeterBRC.

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Exeter Rare Disease

@RDExeter

8 months

Congratulations Kash 🎊.

Exeter Med School

@ExeterMed

8 months

Congratulations to Dr Kayshap Patel on winning the European Journal of Endocrinology Award for his contribution to #diabetes research .

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Exeter Rare Disease

@RDExeter

8 months

RT @nickywhiffin: At #ASHG24 #ASHG2024 and interested in non-coding variants in rare disease? . I am speaking in the session "How do we des….

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Exeter Rare Disease

@RDExeter

8 months

RT @GCAustralasia: 🎓 Thinking About a Career Change in Genetic Counselling? Our webinar on November 14 is a must-attend! Learn about the di….

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Exeter Rare Disease

@RDExeter

8 months

RT @TWright_GenomeX: Superb finale to #BSGM2024! @EllardSian sharing inspiring stories from an impressive career dedicated to advancing #Ge….

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