@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
Ahead of the second reading of the Bill proposing to prohibit cousin marriages tabled by Richard Holden MP, we have issued a parliamentary briefing that can be read here: https://t.co/8Oi9n3b08f
Endorsed by @GenePeopleUK, @Unique_charity, @MPSSocietyUK, @AS_UK and @BarriersDown
👀 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 🙂.
#BSGM2024 Great session on big data and AI- regulatory issues, data sharing. Very topical and food for thought.. Finished off by RNASeq and LRseq detecting SVs to increase diagnoses
What is NIPD? We explore the technique and consider where it can be used to prevent or mitigate certain health conditions: https://t.co/ErRetXTfCp
#NIPD#NIPT#prenatal#genomics
IHCA President Prof. Gabrielle Colleran opened our conference by delivering her first speech in the role, highlighting the need for collaborative and compassionate leadership. ##IHCA2024
This looks like it will be a fantastic learning opportunity for those interested in learning more about prenatal genetics- delivered by experts in the field @uk_fetal@rareireland
This year's Virtual #Prenatal#Genetics Short Course starts in just under 3 weeks! 🗓️
Excited for Day 4, where we’ll dive into the impact of a genetic condition. Join us for an in-depth exploration! 🧬#GeneticCounseling
Book here: https://t.co/p4AMdiG1Xn
@VishTrip_11
A privilege to be invited and meet all of you @MaritaHennessy . Together we can deliver for couples who need expert prenatal genetics input in an integrated, collaborative patient centred way.
A fantastic day at CUMH! Hybrid Grand rounds with colleafues across the region, followed by meetings with colleagues in fetal med, neonatology and pathology. Exciting plans to contribute to the fantastic MDT @keelinodonoghue@PregnancyLossIE@IrelandSouthWID @_TheNMH
Non Invasive Prenatal Diagnosis- an up to date review worth a read for those working in maternity and fertility services @BritSocGenMed@rareireland@HFEA
Loving the new logo! And the new name from Fetal Genomics Group to Prenatal Genomics in line with new plans for the group. Watch this space...@StephKAllen71@BritSocGenMed @UKCGG
Minimally invasive PM can provide an alternative for those who don't consent to a full post mortem. So much progress being made to end the diagnostic odyssey for people who lose their baby #ispd2024
#ISPD2024 Debate: Ciaran Hutchinson Perinatal pathologist GOSH convinces the audience of the role of minimally invasive autopsy vs gold standard PM for anatomical examination of fetal loss.
Fantastic SIG presentation by @StephKAllen71 discussing the role of phenotyping in variant interpretation in fetal anomaly highlighting the importance of deep phenoytping, MDT approach and careful review of sequencing data @ISPDHQ@uk_fetal
@DrSamDoyle, Consultant Clinical and Biochemical Geneticist with a special interest in Perinatal Genetics and Genomics, speaking about Pre-Implantation Genetic Testing: Considerations of a Clinical Geneticist at the #IOGSpringConference2024
A real pleasure to joinIOG 2024 to discuss Clinical Genetics and Pre-implantation genetics. Exciting times in fertility treatment with public funding for IVF and Irelands new AHR legislation on the horizon will hopefully mean public PGT might follow. @meogan@RCPI_news @_TheNMH
"I can say that every person I met @_TheNMH, from the staff at the Reception, Midwifes, Nurses & Doctors, they were absolutely amazing to my partner & I."
Remembering Bradleigh 👣💙🩷🦋 Megan kindly shares her personal story here:
https://t.co/uciwyyMAmF
Are you (or are you about to be) a Consultant in #ClinicalGenetics who would love to come and work in #Belfast?
We have an opening! Great place, great staff, great music, great craic, but it's our patients and families who make the job so rewarding.
https://t.co/MAwE93Stw7
This promises to be an excellent day bringing experts from Ireland and abroad together. A lovely venue and opportunity to meet with colleagues in a beautiful venue too! Register before spaces are gone
@JOGSIreland@ucddublin
Join us in January 12th for a live scanning session with expert top tips for 3D scanning , fetal cardiac imaging and detailed placental imaging
Pls retweet!