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

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.

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

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 🧬

@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

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.

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

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

"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

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

🚨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

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 👏👏

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

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

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

https://t.co/3WmBWqPXoG

"Equitable access to timely genomic testing for people affected by rare diseases is essential..." Our CEO @swynn_unique together with @EllardSian @RDExeter @taylorlabncl wrote for @PET_BioNews :

Phenomenal achievement @rbamford5 👏 👏👏

Congratulations Kash 🎊

At #ASHG24 #ASHG2024 and interested in non-coding variants in rare disease? I am speaking in the session "How do we describe and ascribe clinical significance to the non-coding genome?" bright and early tomorrow morning 🧬