Gavin Ryan

Nearly 1 in 4 children are overweight or obese by the time they start primary school, rising to more than 1 in 3 by the time they leave it. Urgent action is needed to tackle today's weight crisis in the UK: kingsfund.org.uk/insight-and-an…

🚨Opportunity for parents who have a child with a condition caused by a de novo genetic change. Were you offered a personalised PREGCARE assessment or provided with standard recurrence risk counselling and NOT offered PREGCARE? Contact alison.kay@imm.ox.ac.uk for more info

If you’re a clinician requesting genomic testing for a patient, there are some important things for you to know and do in order to maximise the chance that a diagnosis can be found by colleagues analysing the results. Find out more in this resource: buff.ly/NfV2eTA

What infrastructure is needed to realise the potential of AI in health and care? Our new long read considers the technical, environmental and system capabilities required. kingsfund.org.uk/insight-and-an…

GenROC has been open for almost 2 years. We will close to new participants in 4 days but there is still space so don't miss out....And you have until the end of March to complete questionnaires

Our new research article is out in @ejhg_journal! rdcu.be/d1rI4. Inside we explore the congenital heart disease cohorts of the 100,000 genomes project. @ColinAJohnson2 @SunaynaBest @stephbaross @DrJennyLord @KeavneyLab @GavinRyan27 @JacquelineEaso2 @kathrynhentges

First newborns join screening for 200 rare diseases bbc.in/3XTFCUa

In our latest work, we explore the contribution of rare, typically inherited, damaging genetic variants to the risk of severe developmental disorders (DDs) and establish a major role for incompletely penetrant rare variation. Now out on medRxiv: medrxiv.org/content/10.110…

Pls Rt & pass onto any prospective MSc students If you are interested in #bioinformatics and want to use it in a future career then consider this course 👇 You'll study in a world-class environment and use real-life cutting-edge data sets You also get taught by me 😁

#AlphaMissense scores from @GoogleDeepMind are now displayed on @Ensembl #VEP annotation tabs - these scores categorise single nucleotide missense variants as either likely pathogenic or likely benign @emblebi #genomics pic.twitter.com/ZdIHOLqeuJ

CRISPR therapy restores some vision to people with blindness go.nature.com/4afU1hG

We've just published May's edition of our newsletter - learn more about our work embedding #genomics into everyday healthcare!🧬#DNA #Genetics mailchi.mp/1ec153124311/c…

We are getting amazing emails from people who have identified individuals with RNU4-2 variants ❤️ If this is you, and your families are interested in meeting others or being part of a community, then please direct them to @Unique_charity (@swynn_unique).

We're hiring! CAS Genomics is looking to recruit an Informatics Lead as an integral member of the team, contributing to the strategic direction of the GMSA and the genomic data and digital programme within the region. More info and application here 👇 jobs.nhs.uk/candidate/joba…

Yuyang identified a highly recurrent de novo variant in @GenomicsEngland, in 46 individuals, all with undiagnosed NDD. It was not in any diagnosed probands, or unaffected individuals in GEL. It is absent from population cohorts, apart from a single individual in UK Biobank. 3/n

🚨 New FBN1 findings: Two missense variants lead to opposing phenotypes, suggesting distinct impacts on TB5 🤔🧬▶️ bit.ly/4amWt6p FBN1 gene variants are linked to Marfan syndrome, but when present at the TB5 domain of FBN1 associate w/ geleophysic/acromicric dysplasias

Novel compound heterozygous variants in FANCI cause premature ovarian insufficiency dlvr.it/T453Gj

Our online learning hub for the specialist genomics workforce is underway. The Genomics Training Academy (GTAC) team has been developing educational frameworks, mapping curricula and designing courses for #NHSgtac – from lectures to VR to workshops.  orlo.uk/f9gTo

The hereditary breast & ovarian cancer genetic testing best practice guidelines are now published 🎉🧬@EMQNOffice @MirandaDurkie @clare__turnbull @Helen_Hanson1 & all of the authors rb.gy/yzor56