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Genomics England
@genomicsengland.bsky.social
750 followers 38 following 19 posts
We’re working to enable faster and deeper genomic research, to bring genomic healthcare to all who need it.
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Genomics England @genomicsengland.bsky.social · Jan 22
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
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.'
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Genomics England @genomicsengland.bsky.social · 4d
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
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.”.
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Genomics England @genomicsengland.bsky.social · 28d
Our research seminar this month will focus on the Generation Study, a landmark UK initiative exploring the feasibility, impact, and ethics of using whole-genome sequencing in newborn screening.

30 September, 14:00 - 15:00. Our seminars are open to everyone.

Register for free: ow.ly/eoEt50WYb46
Research Seminar: Harriet Etheredge, Dalia Kasperaviciute & Joanna…
Genomics England's monthly, free-to-attend talks presented by Research Network members on the latest research.
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Genomics England @genomicsengland.bsky.social · Sep 12
We are delighted to announce the appointment of Dr Natalie Banner as our Chief Ethics and Engagement Officer.

In her new role, Natalie will be responsible for embedding ethics and equitable approaches across our programmes and ways of working.

Read more: www.genomicsengland.co.uk/news/genomic...
Genomics England appoints Dr Natalie Banner as Chief Ethics and…
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Genomics England @genomicsengland.bsky.social · Jul 16
Today, the government launched the Life Sciences Sector Plan - a 10-year mission to harness British science and innovation for economic growth and a stronger, prevention-focused NHS.

We are proud to help make this vision a reality.

Read more: www.gov.uk/government/n...
Quote from Dr Rich Scott, Chief Executive Officer of Genomics England, on a green and white background. “The ambitions set out in today’s Plan, together with the 10 Year Health Plan, will enable the UK to remain firmly at the forefront of the genomics revolution. “We are excited to explore the extraordinary potential of genomics to drive large-scale preventative care, continue enabling world-class research, and support work improving access to clinical trials for patients with cancer alongside tapping into AI-enabled advances. “A thriving life sciences sector reinforces the UK’s unique position as the place to discover, test, and where proven, roll out genomic innovations that drive better health for all.”
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Genomics England @genomicsengland.bsky.social · Jul 3
The government’s strong support for genomic healthcare in the 10 Year Health Plan is a vote of confidence in the power of genomics to transform lives. We are excited about the role we will play in bringing this to life.

Read the 10 Year Health Plan here: www.gov.uk/government/p...
Quote from Dr Rich Scott, Chief Executive Officer from Genomics England, "The UK has long been a global leader in genomics. This continued support will strengthen our ability to harness the full potential of genomics and data-driven healthcare that will benefit the public for generations to come."
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Genomics England @genomicsengland.bsky.social · Jun 26
The Yellow Card Biobank, launched by the Medicines and Healthcare products Regulatory Agency (MHRA) and Genomics England, will today start investigating genetic risk of acute pancreatitis from GLP-1 medicines, such as Ozempic and Mounjaro.

Read more: ow.ly/wWHB50WgMSR

@mhragovuk.bsky.social
The Yellow Card Biobank starts investigating GLP-1 medicines and…
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Genomics England @genomicsengland.bsky.social · Jun 20
New research led by Genomics England highlights the need for greater diversity in genetic research to make genomics’ use in cancer care and screening more accurate and reliable for all.

Find out more: ow.ly/LOUj50Wcg2q
Greater genetic diversity needed to widen genomics benefits in cancer…
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Genomics England @genomicsengland.bsky.social · Jun 11
New research using data from the National Genomic Research Library describes two new genetic disorders, leading to new diagnoses for families around the world.

Find out more: www.genomicsengland.co.uk/news/nationa...
National Genomic Research Library data leads to new diagnoses of two…
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Genomics England @genomicsengland.bsky.social · Jun 2
New research published today has used data from Genomics England and Our Future Health to uncover how an innovative new file format could help researchers by making genomic analyses faster, cheaper, and more efficient.

Find out more: ow.ly/jbk550W2rR0
Analysis-ready VCF at Biobank scale using Zarr
AbstractBackground. Variant Call Format (VCF) is the standard file format for interchanging genetic variation data and associated quality control metrics.
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Genomics England @genomicsengland.bsky.social · May 29
We are proud to support this genomics ethics network and look forward to working collaboratively with all involved for the benefit of patients and participants 🧬
nuffieldbioethics.bsky.social Nuffield Council on Bioethics (NCOB) @nuffieldbioethics.bsky.social · May 29
We are pleased to announce we are working with @genomicsengland.bsky.social, Our Future Health, @ukbiobank.bsky.social and @sangerinstitute.bsky.social to create a new genomics ethics network, shaped by the needs of the #genomics community.🧬

Find out more:➡️https://bit.ly/NCOB_Genomics
A woman with short blond hair and glasses, wearing a white shirt and dark vest, stands next to the Nuffield Council on Bioethics logo. Below is a quote on supporting ethics in genomics research by Sarah Cunningham-Burley.
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Genomics England @genomicsengland.bsky.social · May 15
More equitable methods are needed to ensure genomic research benefits everyone fairly, according to a new review article in Nature Reviews Genetics involving Genomics England researchers.

Find out more: www.nature.com/articles/s41...

@natrevgenet.nature.com
www.nature.com
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Genomics England @genomicsengland.bsky.social · May 1
We are pleased to announce the appointment of Julian Thomas as our new Chief Technology and Product Officer.

Find out more about Julian, whose arrival will help us build on our achievements to date and continue making genomics more accessible for all: www.genomicsengland.co.uk/news/genomic...
Genomics England welcomes new Chief Technology and Product Officer
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Genomics England @genomicsengland.bsky.social · Apr 10
Researchers have used data from the 100,000 Genomes Project to help create a ‘metal detector’ algorithm to hunt down cancer tumours.

Find out more: ow.ly/Z67G50Vy0aK

@cancerresearchuk.org
@nihr.bsky.social
Scientists create 'metal detector' to hunt down tumours
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Genomics England @genomicsengland.bsky.social · Mar 20
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
Multicoloured graphic with the text 'Genomics England Research Summit 2025. Registration now open'.
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Genomics England @genomicsengland.bsky.social · Mar 5
Are you a member of the Genomics England Research Network? Don't miss out on this incredible opportunity to showcase your research at the 2025 Genomics England Research Summit. The deadline for abstract submissions closes Thursday 20 March 2025 🔬

Submit your abstract: ow.ly/NvKk50Vb3GH

#GERS2025
Multicoloured graphic with the text: Genomics England Research Summit 2025. Call for abstracts now open.
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Genomics England @genomicsengland.bsky.social · Feb 28
Today is Rare Disease Day, and the theme for this year is 'more than you can imagine', which aims to highlight the impact rare conditions can have on a person's sense of self, relationships and wellbeing. Read more here: ow.ly/6YF650V88V7

#RareDiseaseDay #MoreThanYouCanImagine
Blue and pink shapes with the text '1 in 17 people will be affected by a rare condition at some point in their life' Blue and pink shapes with the text 'Every year around 6,000 children in the UK are born with a genetic condition so rare that it does not yet have a name' Multicoloured shapes with the text 'Innovations like AI-driven diagnostics, genomic testing and gene therapies are transforming healthcare, improving health outcomes and reducing inequalities' Multicoloured shapes with the text 'The 100,000 Genomes Project helped thousands of people with an undiagnosed rare condition receive a diagnosis for the first time'
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Genomics England @genomicsengland.bsky.social · Feb 21
Nearly 90% of people would take a genetic test to ensure their medications work effectively and reduce the risk of side effects, according to the first national survey of public attitudes towards pharmacogenomic testing.

Read the full story: ow.ly/yEvP50V3wnC
Almost 90% of people would agree to genetic testing to tailor…
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Genomics England @genomicsengland.bsky.social · Jan 27
New research using data from the 100,000 Genomes Project has helped uncover what drives osteosarcoma – an aggressive bone cancer.

The new insights could, with time, lead to better treatment options and outcomes for patients.

Find out more: www.genomicsengland.co.uk/news/researc...
Researchers uncover what drives aggressive bone cancer
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Genomics England @genomicsengland.bsky.social · Jan 22
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
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.'
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