Stephanie Allen

[UK Prenatal Genomics Group @uk_fetal]

BPNA Fetal and Neonatal Neurology conference in London 22nd April 2026:
https://t.co/dX3jIiwaNS

[JMG @JMG_BMJ]

The Journal of Medical Genetics is now the official journal of the British Society for Genetic Medicine! This partnership strengthens our shared commitment to advancing #genetic & #genomic medicine, bringing cutting-edge #research & insights to the global genetics community. Read more: https://t.co/Q1wO7YfxNX

[Asma Khalil @ProfAsmaKhalil]

🚨 Urgent Action Needed: The Decline of Clinical Researchers in the UK 🚨

A new report by the Medical Research Council (MRC) warns that the UK is facing a critical shortage of clinically trained researchers—a decline that threatens patient care, NHS innovation, and economic growth.

🔬 Why does this matter?
✅ Research-active hospitals have better patient outcomes
✅ Every £1 invested in medical research delivers 25p in annual returns
✅ Clinical research fuels the UK life sciences sector, attracting global investment from companies like AstraZeneca & GSK

📉 The Problem:
🔻 The number of clinical researchers has declined by 6% since 2012
🔻 Senior lecturer-level researchers are down 24%
🔻 The NHS workforce is growing, but research capacity is not keeping up
🛑 Without immediate action, the UK risks losing its position as a global leader in medical research.

🚀 The Solution:
🏥 National strategy to support & fund clinical researchers
🎓 New career pathways to attract young medical professionals
💰 Investment from government, academia & industry

The time to act is NOW. We must reverse this decline to protect the future of UK healthcare and innovation.

➡️ Read the full report here: https://t.co/V4Yhn4SkvX

📢 Share this post to raise awareness!

#MedicalResearch #ClinicalInnovation #NHS #Healthcare

[EpiGenRare - Rare Disease Research UK @EpiGenRare]

🚨Agenda Announcement!

🌟1st EpiGenRare Conference
🗓️26th March 2025
🏨Hyatt Regency, Manchester
🎟️FREE Tickets: https://t.co/7ZRJrkad6W
📃Call for Abstracts - Follow registration link for more details
Deadline: Abstract Submission - 17 Feb 2025

@RDRUKHub @smbanka @mikeyab6872

[UK Prenatal Genomics Group @uk_fetal]

Looking forward to the BSGM annual conference tomorrow! Come and speak to us if you are there. We have a table in the exhibition room #BSGM24

[Matt Hurles @mehurles]

Good to see ukbiobank issuing a robust statement addressing these concerns openly. A bit concerning to learn that the Guardian may not have shared all the information that could have helped with ukbiobank’s investigation.

[Nicole Lake @NicoleLake]

Excited to share our @Nature paper introducing constraint metrics for #mtDNA! Constraint models are powerful tools that were missing for mtDNA—until now. By applying our model to #gnomAD, we reveal which sites in mtDNA are most crucial for health & disease https://t.co/QeJVWhVnhI

[UK Prenatal Genomics Group @uk_fetal]

Interested in finding out more about non-invasive prenatal diagnosis (NIPD)?
https://t.co/TXMqKNw35c

[DiseaseGenes @DiseaseGenes]

Non-immune hydrops fetalis is associated with bi-allelic pathogenic variants in the MYB Binding Protein 1a (MYBBP1A) gene https://t.co/Gs6pnBeLzM

[College of Medicine and Health (UoB) @unibirm_CMH]

Congratulations to @tommysbham who have received further funding to continue their important miscarriage research until at least 2029. https://t.co/pbmOMauvm2
@BWC_NHS @uniwarwick @nhsuhcw @imperialcollege @imperialNHS @arricoomarasamy @IMSR_UoB

[UK Prenatal Genomics Group @uk_fetal]

#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.

[UK Prenatal Genomics Group @uk_fetal]

#ISPD2024 Poster on collaborative ClinGen prenatal gene curation expert panel- very important initiative!

[UK Prenatal Genomics Group @uk_fetal]

#ISPD2024 Beautiful Boston!

[AGNC @theAGNC]

Consultant Genetic Counsellor, Peter Marks, reminds us how Genetic Counsellors can drive change at a national level and discussed the implementation of R445 in the National Test Directory #AGNC2024

[Matthew Herper @matthewherper]

Very cool use of AI

[Daniel MacArthur @dgmacarthur]

Zornitza Stark (@ZornitzaS) presenting on a collaboration with my team to develop an automated pipeline to regularly reanalyse genomic data from undiagnosed patients. We know reanalysis is highly effective, but (shockingly) rarely done in clinical settings. #eshg2024

[The North West Genomic Laboratory Hub @NWGLH]

Best practices for genetic and genomic data archiving (££)

#Genomics

https://t.co/KxtF78gNl2

[Stephanie Allen @StephKAllen71]

https://t.co/Usi4L8qRRl

[Jamie Ellingford @j_ellingford]

⏪Reanalysing historical arrayCGH data identifies new diagnoses⏪

Copy number losses overlap with disease genes that have been discovered since the time of first analysis

@BurghelG @smbanka @x2scoops @Jon_Omics @CanGen_Chris @GenomicsRonnie @NWGLH

https://t.co/4U11jTaLaU

[Nicky Whiffin @nickywhiffin]

Would you believe me if I told you that a single variant in a non-coding RNA explains ~0.5% of all undiagnosed individuals with neurodevelopmental disorders (NDD) in @GenomicsEngland ???

I didn’t initially either, but here is the story of RNU4-2 🧵1/9