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Genomics England

@genomicsengland.bsky.social

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 · last wk.

2 years after the discovery of ReNU syndrome, where has the research led? In our latest episode, our guests explore how one genetic discovery has grown into a global collaboration between researchers, clinicians and families. Listen: https://ow.ly/qmIh50Zu8bQ

Colorful abstract DNA strand design above and below the text 'Behind the Genes' on a dark background with 'New episode' in blue below.

Title of the episode 'What happens after a new rare genetic condition is discovered?' and the guest's names 'Professor Nicky Whiffin, Christina Cox, and Dr. Ana Lisa Tavares' on a dark blue background above a colourful abstract DNA strand design.

Genomics England @genomicsengland.bsky.social · last wk.

How is AI (artificial intelligence) used in genomics? AI is helping researchers analyse genomic data, identify patterns and generate new insights into health. Swipe through the images below to learn how AI is supporting genomic research and helping us better understand our DNA.

Illustration of a scientist analysing genomic data on a computer screen with text explaining "Genomic data is incredibly complex. AI can help researchers analyse genomic data and find patterns that may help us better understand health"

Illustration symbolising connections between people with text explaining "AI can help researchers look for connections between: Differences in people’s DNA, Health conditions, and How people respond to treatments. This can help us learn more about why conditions develop and how they can be treated"

Illustration of a doctor consulting a patient alongside text explaining "By helping researchers understand genomic information, AI could support: Earlier and more accurate diagnoses, Better understanding of conditions and More personalised approaches to healthcare"

Illustration of a DNA strand with text explaining "AI is just one tool in genomic research. It works alongside researchers, clinicians and participants to help answer important questions about health. As genomic research advances, AI could help us uncover new insights from our DNA"

Genomics England @genomicsengland.bsky.social · 2w ago

Why do medicines work differently for different people? One of the reasons is our genes, and this is because they can influence how our bodies respond to medicines. This area of research is known as pharmacogenomics. Swipe through the images below to learn more 🧬💊

Illustration of a DNA strand on a green background, above text explaining "Pharmacogenomics is the study of how your genes can influence the way your body responds to medicines. Your DNA can affect how well a medicine works for you, or whether you're more likely to experience side effects"

Illustration of a woman taking medicine with text explaining "Pharmacogenomics could help healthcare professionals: Choose the most effective medicine, Prescribe the right dose, Reduce the risk of side effects. The aim is to make treatment safer and more personalised"

Illustration of a scientist analysing DNA sequences on a computer screen above text explaining "As research continues, pharmacogenomics has the potential to support more personalised prescribing across the NHS. By understanding how our genes influence our response to medicines, we can help ensure the right medicine reaches the right person in the right amount."

Genomics England @genomicsengland.bsky.social · 4w ago

New research using data from the 100,000 Genomes Project has analysed more than 16,000 tumour whole genomes. Researchers found that some cancers contained diverse communities of bacteria, fungi, viruses and other microorganisms. Read more: https://ow.ly/rzry50ZlWpz

Largest study yet reveals which cancers have their own microbiomes

Knowing which cancer tumours have their own microbiomes could lead to more personalised treatments.

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Genomics England @genomicsengland.bsky.social · last mo.

A "no condition suspected" result in the Generation Study means that none of the gene changes associated with the more than 200 rare genetic conditions included in the research study were identified. Read Marnie's story: https://www.genomicsengland.co.uk/patients-participants/stories/marnie

Participant story graphic titled 'Marnie's story: No condition suspected' with a photo of Marnie with her parents.

A quote from the participant story saying “We’re so glad to have been involved. The fact that we’ve been able to contribute to this and help protect other families in future is just amazing in itself. We really hope this will help get more conditions spotted sooner and give more babies that extra help growing up.”

Genomics England @genomicsengland.bsky.social · last mo.

This week's Research Summit brought together experts and advocates from across genomics and healthcare to share research, exchange ideas and explore how genomics can improve outcomes for patients and communities. Read about the highlights from the day: https://ow.ly/pSMm50ZgbK8 #GERS2026

Genomics England Research Summit: Driving genomic medicine forward

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Genomics England @genomicsengland.bsky.social · last mo.

Today is the day of our Research Summit! We’re excited to welcome attendees to the Business Design Centre in London for a full day of insight, discussion and collaboration across genomics and healthcare. #GERS2026

Attendees lined up at the registration desk for the Genomics England Research Summit 2026 event.

Genomics England @genomicsengland.bsky.social · last mo.

The team is busy behind the scenes at the Business Design Centre as preparations get underway for tomorrow's Research Summit, and for those keeping an eye on the weather forecast, the venue is air conditioned ❄️ We can't wait to welcome you all! #GERS2026

Genomics England @genomicsengland.bsky.social · 2mo ago

Over 1,000 people have already registered for our Research Summit. Join researchers, clinicians, industry experts and participants on 23 June in London to explore the latest developments in genomics and healthcare. Register now, open to all: https://genomicsresearchsummit.co.uk/ #GERS2026

Genomics England @genomicsengland.bsky.social · 4mo ago

Researchers have identified a major genetic cause of severe childhood epilepsy, using data from Genomics England’s National Genomic Research Library. Read more via the link: www.genomicsengland.co.uk/news/researc...

Researchers identify a new recessive neurodevelopmental disorder…

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Genomics England @genomicsengland.bsky.social · 7mo ago

Registration is now open for our Research Summit, taking place on Tuesday, 23 June 2026 at the Business Design Centre in London. This year's focus is on innovation and next-generation technologies. Get your ticket: ow.ly/u1VJ50XSsaB

Genomics England @genomicsengland.bsky.social · 8mo ago

Our Research Summit returns on Tuesday 23 June 2026! If you’re a member of the Genomics England Research Network, don’t miss the opportunity to showcase your work. Abstract submissions close on Friday 20 March 2026. Submit yours here: ow.ly/Kpru50XBNnf

Genomics England @genomicsengland.bsky.social · 10mo ago

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.”.

Genomics England @genomicsengland.bsky.social · 11mo ago

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 · 11mo ago

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 · last yr.

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.”

Genomics England @genomicsengland.bsky.social · last yr.

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."

Genomics England @genomicsengland.bsky.social · last yr.

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 · last yr.

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 · last yr.

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 · last yr.

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 · last yr.

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 🧬

Nuffield Council on Bioethics (NCOB)@nuffieldbioethics.bsky.social · last yr.

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

Genomics England @genomicsengland.bsky.social · last yr.

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

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Genomics England @genomicsengland.bsky.social · last yr.

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 · last yr.

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 · last yr.

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'.

Genomics England @genomicsengland.bsky.social · last yr.

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.

Genomics England @genomicsengland.bsky.social · last yr.

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'

Genomics England @genomicsengland.bsky.social · last yr.

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 · 2y ago

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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