Say hello🖐to Gavin Fuller, principal clinical scientist in our rare disease team. For Gavin, job satisfaction is finding a diagnosis for a family's unexplained symptoms: 'The most appealing part of my job is finding an answer'. For more 👉bit.ly/411C43g #Genomics

Today in the The Lancet, we UK geneticists argue: "Population screening requires robust evidence—genomics is no exception" Anneke Lucassen, Helen Firth, Bill Newman, Caroline Wright, Margaret McCartney, @wilkie_lab, Robin Lachmann,TomlinsonGroup,Lucy Raymond authors.elsevier.com/a/1iD4W_3CjG8W…

When I thought I was done with the GWAS stories of 2023 and I should wrap up, stephen o'rahilly (its pronounced O-RA-hill-EEE) dropped yet another great paper from his team. How can I resist? It's storytelling time. In this hot-off-the-press Nature paper, Marlena Fejzo et al. uncover an absolutely fascinating

Want to be a pivotal member of our #raredisease team? Our lead #genomics lab at Cambridge University Hospitals NHS is recruiting Scientific Support Officers to support Duty Scientists and #prenatal / #wholegenomesequencing service. Find out more and apply by 3 Jan: bit.ly/3TE6gjD 🎅🎄

A rare opportunity to contribute to rare disease diagnostic and research working with the Decipher team on the Welcome Genome Campus embl.org/jobs/position/…

The UK Newborn Genomes Programme plans to sequence the genomes of over 100 000 newborns to look for conditions. Yet predicting future health from the genetic code is difficult and could leave more families living with anxiety about their baby’s future bmj.com/content/384/bm…

1/ What do you think about sequencing the entire genetic code (#genome) of babies at birth? 👶 🧬 🔍 A thread based on our The BMJ paper bmj.com/content/384/bm…

We are hiring Principal Clinical Scientists to join the senior team of the Rare Disease service at the Cambridge Genomics laboratory. ⁦NHS East Genomics⁩ ⁦ACGS⁩ ⁦Cambridge University Hospitals NHS⁩ careers.cuh.nhs.uk/current-vacanc…

Exome sequencing is as good as microarrays for finding pathogenic copy number variants! Evidence is very clear from DDD study & supports replacing current 2-step diagnostic process with single genome-wide sequencing approach for dev disorders. news.exeter.ac.uk/faculty-of-hea…

Would you believe me if I told you that a single variant in a non-coding RNA explains ~0.5% of all undiagnosed individuals with neurodevelopmental disorders (NDD) in Genomics England ??? I didn’t initially either, but here is the story of RNU4-2 🧵1/9

We're delighted to announce that registration for the ACGS Summer meeting 2024, taking place at the ICC Birmingham, on the 10th-11th June, is live. You can register, and view full details of the meeting, by following the link below. acgs.uk.com/events/acgs-su…

Here we go… to the privilege of being able to meet to discuss science and ideas, thank you ⁦⁦European Society of Human Genetics (ESHG)⁩

Zornitza Stark (Prof Zornitza Stark) presenting on a collaboration with my team to develop an automated pipeline to regularly reanalyse genomic data from undiagnosed patients. We know reanalysis is highly effective, but (shockingly) rarely done in clinical settings. #eshg2024

Check out vacancies for scientific roles at the Cambridge University Hospital Genomics Laboratory. Come work in an internationally reputed laboratory delivering the Genomics Medicine Service ⁦ACGS⁩ ⁦NHS East Genomics⁩ ⁦⁦Cambridge University Hospitals NHS⁩ careers.cuh.nhs.uk/current-vacanc…

Current mood. 🇬🇧🇫🇷 Yes, that is Angela Rayner

Deux-trois choses que Lucie Castets ne sait pas sur les Français de l'étranger et l'expatriation : un thread 🧵 1️⃣ Entre 2.5 et 3 millions de Français résident hors de 🇫🇷. Parmi eux, nombreux sont nés à l'étranger. D'autres sont bi-nationaux. Certains ne parlent pas le Français.

Important changes in the Rare and Inherited Disease Genomic Test Directory concerning testing criteria for patients with developmental disorders. ℹ️eastgenomics.nhs.uk/for-healthcare… Register for our Paediatric Genomics Forum, 26 Sep where these will be discussed: events.eahsn.org/EastPaediatric…

We're looking for a Technical Programme Manager to lead the Next Generation Sequencing section of our Cambridge University Hospitals NHS laboratory. Permanent role, full- or part-time with flexible working possible. NHS Band 7. Find out more: lnkd.in/e2nZWRJ4 Closes 4 November 2024 at 23:59.

Let's set the record straight!! Read our joined statement with European Society of Human Genetics (ESHG) condemning attempts to resurrect discredited race science to promote the pseudoscience of eugenics, in response to recent investigation shared by the The Guardian and Channel 4 bsgm.org.uk/news/bsgm-eshg…