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.

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

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

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

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 biorxiv.org/content/10.1101/…

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

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. 🤯

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

A big thank you to @drjfrank & @PapersPodcast 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/… Have not read the paper yet? Open access doi.org/10.1080/0142159X.202…

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 by bacterial or other toxins. Prior animal studies have indeed shown that heterozygous state of cystic fibrosis mutation protects against cholera and typhoid bacterial toxins. It's amazing to see validation using human genetics with IBD as outcome. This was one of the ASHG abstracts this year that stood out for me. Nice to see it in preprint. Yu et al. medRxiv (from International IBD consortium) medrxiv.org/content/10.1101/…

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.

"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 @GeneticsMBBS, @PeterPrinsley, Dr Khondoker, and Prof. Philpott doi.org/10.1111/coa.14257

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

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! @UlsterUni #ProudOfUU

Very proud to announce that tonight @PALOH_Study won the @timeshighered STEM award for @OfficialUoM #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/jam…

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/publicatio…

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 @ZornitzaS @thorburn_mito @Mitochondriac_ #mito

Have you heard about #GeNotes? Flagship resource of NHSE @genomicsedu designed to support clinicians in requesting and managing complex genomic tests - read all about it! link.springer.com/10.1186/s1…