In this Nature Medicine paper, we draw from our experiences in evaluating and implementing #genomics in Australia, Canada, England, Hong Kong and the US
www.nature.com/articles/s41...
Text saying 'The Generation Study is looking for more than 200 rare conditions which usually appear in the first few years of life, can be improved if caught early, and can be treated in the NHS.', with a green, a yellow and a pink circle below on a light green background.
Text saying 'Four weeks after being born and having his genome sequenced, Freddie was diagnosed with hereditary retinoblastoma, a rare and aggressive form of eye cancer usually diagnosed in very young children.', and a photo of Freddie on a pink background.
Text saying 'Very shortly after his diagnosis, Freddie was able to start treatment at Birmingham Children's Hospital. This gives doctors the best chance to minimise the impact on his vision.' and a photo of Freddie, his parents and sibling on a blue, yellow and pink background.
Quote from Dr Rich Scott, Chief Executive Officer of Genomics England on a pink and white background saying “We believe genomics can transform healthcare in this country and be used to get ahead of serious illness. It’s been incredibly moving to see the lifechanging impact the Generation Study is having for families like Freddie’s, who have been able to access treatment that makes a world of difference soon after being born.”.
4 weeks after being born, Freddie was diagnosed with a rare form of eye cancer. He is one of numerous babies born with rare conditions who are receiving earlier diagnoses and treatment as a result of the Generation Study.
Read the full story: ow.ly/YJ7850XcTNk
The BES is recruiting two new events interns to help run their annual meeting ⭐️ I was an intern right out of uni and it is such a cool opportunity for any ecology/conservation students looking for a place to start their career and meet great people www.britishecologicalsociety.org/content/vaca...
Multicoloured graphic with the text 'Genomics England Research Summit 2025. Registration now open'.
Registration is now open for the 2025 Genomics England Research Summit!
Held on 17 June in London, this year’s agenda will explore groundbreaking research, technologies, and collaborations driving advances in genomic medicine.
Spaces are limited, register here: ow.ly/ha8450Vlg6b
#GERS2025
Absolutely fantastic news as sickle cell gene therapy is to be rolled out for sickle cell academia with a one off treatment curing 97% of patients 🧪
A lot of really interesting discussions on the use of AI in genomic research at day 2 #FOG2025 it’s been great to hear from so many building data governance into the core of their projects, not just treating it as an obstacle!
#SaveThePCC
Some of you may have read about the situation regarding our new landlord wishing to add a new redevelopment break clause, with only 6 months notice to our lease.
For now, we're simply asking you all to share & sign the petition below;
you.38degrees.org.uk/p/princechar...
An early highlight of #FOG2025 with @adamrutherford.bsky.social talk, so important to reflect at the start of the conference on the founding of genetics as a field so inextricably linked to white supremacy and how we can continue to fight outdated and bigoted views in our work and outreach
Parents holding babies and the text 'The study aims to improve our understanding of how to diagnose and treat rare genetic conditions by sequencing newborns’ genomes.'
Parents holding babies and the text 'It will also support research into genetic conditions and explore the potential of storing a genome over a person’s lifetime.'
Parents holding babies and the text 'Parents at participating NHS Trusts will be asked if they wish to join from approximately 20 weeks of pregnancy.'
Parents holding babies and the text 'The study was designed in collaboration with the public, parents, healthcare professionals and people from the rare disease community.'
The Generation Study is a ground-breaking research study in partnership with the NHS which will sequence the whole genomes of up to 100,000 newborn babies and look for 200+ rare conditions in early childhood.
Find out more: ow.ly/RVuJ50TBVQf
📣 Big news! Our tag-team effort on common variants in rare neurodevelopmental conditions is now out in Nature 📣
Co-first authoring with the brilliant Qinqin Huang🌟—proof that teamwork does make the dream work. 💪 www.nature.com/articles/s41...
If I’d known that they’ve eluded researchers for decades I would have told them I already have one in my Animal Crossing aquarium
I am a sheep and so have fled X for bluer skies, please enjoy this massive dog I saw yesterday as my contribution 🙂↕️