Stephanie Allen

BPNA Fetal and Neonatal Neurology conference in London 22nd April 2026: courses.bpna.org.uk/ecomm_product_…

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: bit.ly/3CZ6o77

🚨 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: bit.ly/3X1QK1R 📢 Share this post to raise awareness! #MedicalResearch #ClinicalInnovation #NHS #Healthcare

🚨Agenda Announcement! 🌟1st EpiGenRare Conference 🗓️26th March 2025 🏨Hyatt Regency, Manchester 🎟️FREE Tickets: buytickets.at/rdrukepigenrar… 📃Call for Abstracts - Follow registration link for more details Deadline: Abstract Submission - 17 Feb 2025 @RDRUKHub @smbanka @mikeyab6872

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

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.

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 nature.com/articles/s4158…

Interested in finding out more about non-invasive prenatal diagnosis (NIPD)? sciencedirect.com/science/articl…

Non-immune hydrops fetalis is associated with bi-allelic pathogenic variants in the MYB Binding Protein 1a (MYBBP1A) gene dlvr.it/TCSm22

Congratulations to @tommysbham who have received further funding to continue their important miscarriage research until at least 2029. birmingham.ac.uk/news/2024/lead… @BWC_NHS @uniwarwick @nhsuhcw @imperialcollege @imperialNHS @arricoomarasamy @IMSR_UoB

#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.

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

#ISPD2024 Beautiful Boston!

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

Very cool use of AI

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

Best practices for genetic and genomic data archiving (££) #Genomics nature.com/articles/s4155…

⏪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 pubmed.ncbi.nlm.nih.gov/38604752/

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