From now on find me at https://xitter.cf/t.co/BnTQCU3tK0
Norwich Medical School
Joined September 2012
- Tweets9.3K
- Following3.6K
- Followers2.2K
- Likes21.7K
BarbaraJennings (she/her) retweeted
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.
BarbaraJennings (she/her) retweeted
We face a worrying shortage of doctors.
I was concerned to hear reports of cash-strapped universities making clinical professors redundant.
BarbaraJennings (she/her) retweeted
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
ALT Vector image of two people at a bookshelf reading, while on top of large books.
BarbaraJennings (she/her) retweeted
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
BarbaraJennings (she/her) retweeted
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/…
BarbaraJennings (she/her) retweeted
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
BarbaraJennings (she/her) retweeted
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. 🤯
BarbaraJennings (she/her) retweeted
"I just decided, when someone says you can't do something. DO MORE OF IT."
- Faith Ringgold, US artist and activist #WomensArt
BarbaraJennings (she/her) retweeted
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…
BarbaraJennings (she/her) retweeted
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/…
BarbaraJennings (she/her) retweeted
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.
BarbaraJennings (she/her) retweeted
"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
BarbaraJennings (she/her) retweeted
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
BarbaraJennings (she/her) retweeted
Very proud to announce that tonight @PALOH_Study won the @timeshighered STEM award for @OfficialUoM #THEAwards
Winning #THEAwards Research Project of the Year: STEM is @OfficialUoM for creating the world’s first rapid bedside test to detect a gene for antibiotic-induced deafness in newborns, which the judges described as “a game changer for thousands of babies”👶
BarbaraJennings (she/her) retweeted
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…
BarbaraJennings (she/her) retweeted
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…
BarbaraJennings (she/her) retweeted
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
ALT Screenshot of Figure 1: Flow chart showing diagnostic yield and modified Nijmegen mitochondrial disease criteria score for critically unwell infants and children who were suspected of a mitochondrial disorder and for those who were ultimately diagnosed with a mitochondrial disorder. ES exome sequencing, GS genome sequencing, mtDNAseq mitochondrial DNA sequencing, MD mitochondrial disorder, non-MD non mitochondrial disorders
BarbaraJennings (she/her) retweeted
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…
