Clinical Scientist in Genomics. He/Him. All views my own.
Joined June 2018
- Tweets222
- Following208
- Followers127
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Gavin Ryan retweeted
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…
ALT A bar chart showing that nearly a quarter of 4-5 year olds are overweight or obese. Green bars show the split between obese and overweight each year from 2006-2007. It has remained around 20-25% every year.
Gavin Ryan retweeted
🚨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 [email protected] for more info
Gavin Ryan retweeted
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
Gavin Ryan retweeted
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…
Gavin Ryan retweeted
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
Gavin Ryan retweeted
First newborns join screening for 200 rare diseases bbc.in/3XTFCUa
Gavin Ryan retweeted
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/10.1101/…
Gavin Ryan retweeted
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 😁
Where do you see yourself in 5 years time? If your answer is 'working in the biotechnology, medical research or pharmaceutical industry', it might be worth you taking a look at our Applied Bioinformatics programmes @MScBioinformat cardiff.ac.uk/study/postgrad…
Gavin Ryan retweeted
#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 teapaw.org/deciphergenomic/status…
Gavin Ryan retweeted
CRISPR therapy restores some vision to people with blindness go.nature.com/4afU1hG
Gavin Ryan retweeted
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/cent…
Gavin Ryan retweeted
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).
Thrilled to share our latest discovery on a spliceosomal snRNA gene causing neurodevelopmental disorders: medrxiv.org/content/10.1101/… Thank you to everyone who contributed; it’s been a phenomenal effort to collaborate with clinicians and researchers for what would help many families!
Gavin Ryan retweeted
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/jobadv…
Gavin Ryan retweeted
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
Gavin Ryan retweeted
🚨 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
Gavin Ryan retweeted
Novel compound heterozygous variants in FANCI cause premature ovarian insufficiency dlvr.it/T453Gj
Gavin Ryan retweeted
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
ALT White text on a blue background reads: "Introducing the Genomics Training Academy"
Gavin Ryan retweeted
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