Have you heard about #GeNotes? Flagship resource of NHSE Genomics Education designed to support clinicians in requesting and managing complex genomic tests - read all about it! link.springer.com/10.1186/s12909…

Faster answers = Better care. Ultra-rapid genomic testing is changing the game for diagnosing mitochondrial disease in babies, with a diagnostic yield of 47%, and 79% had change in clinical management! bit.ly/3CKp629 Prof Zornitza Stark David R. Thorburn @Mitochondriac_ #mito

Folic acid is important before and during pregnancy. Folate will be added to flour but women should still take supplements to reduce the risk of birth defects. UK Chief Medical, Nursing and Midwifery Officers have sent guidance to health professionals. gov.uk/government/pub…

AMAZING NEWS! Ulster University has just won the prestigious Times Higher Education University of the Year 2024! An absolute privilege to be working at such a progressive, innovative and inclusive university! Ulster University #ProudOfUU

Very proud to announce that tonight The PALOH Trial won the Times Higher Education STEM award for The University of Manchester #THEAwards

Early read out of New York's newborn screening program (GUARDIAN study) using targeted genome sequencing of 4000 rare disease patients yielded a mere 3.7% positive rate. Why are we still doing gene panel? Why not WES or WGS? Ziegler et al. JAMA jamanetwork.com/journals/jama/…

There was a Vote of No Confidence in the Executive Team OVERWHELMINGLY carried at the UEA Staff Assembly this afternoon. #SaveUEA #UKHE

"Epidemiology of Cholesteatoma in the UK Biobank" has been published! Great work from PhD student Emma Wilson and something that is outside my normal Prostate Cancer research area. With BarbaraJennings (she/her), Dr Peter Prinsley MP, Dr Khondoker, and Prof. Philpott doi.org/10.1111/coa.14…

Analysis of sequencing data of 320k individuals (75k cases and 245k controls) shows heterozygous carriers of cystic fibrosis mutations are protected from inflammatory bowel disease. The protection mechanism could be due to an altered gut mucosal barrier that resists penetration

Prescription charges are a barrier to keeping people with long-term health conditions in England healthy. That is why I am supporting the campaign to #FreezeTheCharge in 2025 and #ReviewTheList so that people do not lose out on vital medicines which they need to stay well.

A big thank you to Dr Jason Frank & The Papers Podcast for selecting our recent BEME review on clinical educators' #motivation to teach for their latest episode, great discussion and feedback ➡️ paperspodcast.ki.se/2024/12/03/75-… Have not read the paper yet? Open access doi.org/10.1080/014215…

"I just decided, when someone says you can't do something. DO MORE OF IT." - Faith Ringgold, US artist and activist #WomensArt

The mental disconnect between this slashing taking place across the sector while (1) having to go on making university happen, teaching, researching, publishing and (2) the responsible lobby groups and ministers made students pay a couple of quid more and called it a day. 🤯

Epi-what now? Get to grips with the basics of #epigenetics, from what it is and how it works to its impact in #healthcare, with our handy bitesize resource: buff.ly/43HFxFO #genomics

Exactly how many protein-coding genes are there in the human genome? The truth is no one knows. The numbers change based on what database you use as reference. "More than 2,500 coding genes in the human reference gene set still have unsettled status" Maquedano et al. bioRxiv

Why is a genetic family history an important tool to help identify an inherited condition? Find out the answer and learn how to draw a family history yourself, in this short, flexible online course. buff.ly/4iBdlLI #Genomics101

Have you viewed our Genomics in Medical Specialties playlist? Listen to #genomics champions from a range of disciplines explain the importance of genomics in their practice and how it makes a difference for patients: buff.ly/4fJzoNI

We face a worrying shortage of doctors. I was concerned to hear reports of cash-strapped universities making clinical professors redundant.

An increasing number of papers is emerging from the Human Phenotype Project. 👉It is a very rich dataset with serial deep phenotyping assessments for 10,000 participants 👉Latest paper explores associatons of 448 sleep traits from apnea test monitoring with other phenotypes.