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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.

44 Posts854 Follower 39 Folgt

Genomics England @genomicsengland.bsky.social · 6d ago

In this video, we hear first-hand what a ReNU syndrome diagnosis has meant for families and the community they’ve subsequently found, how the condition’s discovery came about, and some of the research that has followed. Watch on YouTube: youtu.be/PVY4YzV6mOQ

ReNU syndrome – From discovery to diagnosis

YouTube video by Genomics England

youtu.be

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

More than 300 people shared their views on the future of genomics in adult healthcare. A clear message emerged: support depends on trust, transparency, fair access to healthcare and ensuring the NHS is ready to support implementation. Join our webinar on 5 November: https://ow.ly/O2m050ZYRWT

Genomics, Healthcare and You webinar announcement, scheduled for 5 November 2026, 12:00 to 13:30 GMT. The background is blue and white and there is an image of people holding their hands up.

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

What should the future of genomics in healthcare look like? Genomics, Healthcare and You explored views from the public, underrepresented communities and healthcare professionals across England. Find out more: https://ow.ly/joJi50ZYmbs

Illustration of a diverse group of seven people, below text saying 'Genomics, Healthcare and You was a national engagement programme commissioned by Genomics England.

Over 300 people across England shared their views on how genomic information could be used as part of routine healthcare in the future'.

Illustration of a handshake, below the text 'Trust was the strongest and most consistent theme.

People wanted reassurance that genomic information would be used responsibly, with robust safeguards around data access and governance.

They also wanted transparent decisions about how genomic information would be used'.

Illustration of a woman in a green shirt taking medication with a glass of water, below text saying 'Pharmacogenomics attracted particularly strong support.

Many people saw value in using genomic information to help identify which medicines are likely to work best for different people, and reduce the risk of adverse reactions.

People were also willing to receive risk information, as long as it could be acted upon.'

Quote from Professor Rich Scott, CEO at Genomics England, saying 'People want transparency, robust safeguards and confidence that genomic information will be used responsibly. They want to know that the benefits of genomics will be shared fairly across society and that the NHS is ready to deliver on its promise. These insights will play an important role in shaping our future work, helping ensure that public perspectives remain at the heart of how genomics is developed and used in healthcare".

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

Genomics, Healthcare and You, a nationwide engagement programme, explored views on the future of genomics in adult healthcare. On Thursday 5 November, 12:00-13:30, we will be hosting a webinar to outline the key findings from the conversations. Register: www.genomicsengland.co.uk/events/genom...

Webinar announcement on the topic of Genomics, Healthcare and You, scheduled for 5 November 2026, 12:00-13:30 GMT, hosted by Genomics England.

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

Genomic data can help identify patients for clinical trials based on their biology, helping create opportunities for earlier access to therapies that could improve, extend or save lives. Read our article in today's Guardian and online: https://ow.ly/wSs750ZP2a4

Genomic data matches patients with new treatments

Genomic data is helping to identify eligible patients for groundbreaking treatments, with real opportunity to scale this for wider benefit.

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

Attending the International Consortium on Newborn Sequencing (ICoNS) next month? Members of the Genomics England team will be speaking across a range of sessions over both days. Full details in the images below. #ICoNS26

ICoNS October 7 Genomics England speakers, Harriet Etheredge and Alice Tuff-Lacey.

ICoNS October 8 Genomics England speakers, two talks with David Bick.

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

Making genomic datasets more ancestrally diverse could make rare conditions diagnoses fairer and more accurate for everyone, according to new research led by Genomics England. Read more: https://ow.ly/36vB50ZGxAS

More diverse genomic datasets could improve equity in rare conditions…

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

AI is increasingly being explored across healthcare, but what could it mean for cancer treatment? Listen to the full episode on your favourite podcast app, or on our website: https://ow.ly/uWbh50ZFwxY

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

The Access Review Committee is seeking a new Chair. The independent Committee oversees requests to access the data held in the National Genomic Research Library. Applications close 22 September, 23:59. Find out more and apply: https://ow.ly/klpE50ZFHnQ

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

Cancer vaccines have been making headlines, with new trial results highlighting the potential of personalised mRNA vaccines. But what are they and how do they work? This short explainer episode of Behind the Genes explains the science behind them: https://ow.ly/UY3g50ZyPG7

What are cancer vaccines?

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

When baby Revan took part in the Generation Study, his result helped identify the same rare genetic change in his older brother. Both boys are now being monitored before symptoms may appear, giving their family a plan for the future. Read the story: https://ow.ly/T5VV50ZCiwP

Baby Revan smiling, wearing a white sweater with 'hello world' text, lying on a patterned blanket. Text above saying 'Revan, a baby born in West Yorkshire, was found to have a gene change associated with adrenoleukodystrophy (ALD) when he was just a few weeks old, after having taken part in the Generation Study'.

Multicoloured circles below text saying 'ALD is a rare genetic condition that causes problems with vision, movement and understanding as well as adrenal problems, and in most childhood cases is life-limiting'.

Jessica, Dominic, Revan and Thorin standing in front of a door smiling. Text below saying 'Revan’s result prompted genetic testing for his older brother, which found that he also carries the gene associated with ALD. Both children are now receiving regular monitoring, allowing changes to be picked up early'.

Quote from Professor Rich Scott, CEO of Genomics England saying "We are really pleased that the Generation Study has helped Revan’s family receive an early result for both of their children. This is exactly the kind of evidence the study is designed to build, showing how whole genome sequencing at birth could support earlier diagnosis, earlier care and better understanding of rare genetic conditions.”

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

What is DNA made up of? 🧬 DNA is a molecule found in all living things. It carries the genetic information we need to survive, function and grow, like an instruction manual for our body. Swipe through to learn more about what makes up DNA.

Diagram of a nucleotide below the text 'DNA is made up of repeating building blocks called nucleotides. There are 4 different types of nucleotide. Each type has a different base. We call these 4 bases A, T, C and G'.

Illustration of a DNA double helix below the text 'Billions of nucleotides link together to form strands. DNA consists of two of these strands twisted around each other to form a shape called a double helix. The bases within these nucleotides are arranged in a specific order, creating a sequence'.

Illustration of a scientist studying DNA sequences on a computer screen, below the text 'The order of the bases, A, T, C and G acts like a biological code. Genes are made up of specific sequences of bases, which provide instructions for how our bodies grow, develop and function'.

Illustration of a a magnifying glass looking at a DNA strand, below the text 'Even a difference in a single base can sometimes affect how our bodies work. By studying these genetic differences, researchers can learn more about health and how conditions develop'.

Genomics England @genomicsengland.bsky.social · 3mo ago

What is epigenetics? 🧬 Our DNA doesn't usually change throughout our lives, but the way our cells use the information in our DNA can. Swipe to learn more!

Illustration showing epigenetics as gene switches that turn DNA activity on or off. With text explaining 'Epigenetics is the study of how our genes can be turned on or off. It doesn't change the DNA itself – it changes how our cells use the information in our DNA'.

Illustration of a cell with DNA inside, with text explaining 'Different cells in our bodies have the same DNA, but they do different jobs. For example, a skin cell and a muscle cell use different genes, even though they contain the same DNA. Epigenetics helps control which genes are active in which cells'.

Illustration of a researcher looking at a computer, with text explaining 'Epigenetic changes happen naturally as we grow and develop. Researchers are exploring how epigenetic changes happen over time, and what role they may play in different health conditions'.

Genomics England @genomicsengland.bsky.social · 3mo ago

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 · 3mo ago

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 · 3mo 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 · 4mo 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 · 4mo ago

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 · 4mo ago

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 · 4mo ago

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 · 4mo ago

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 · 5mo 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 · 7mo 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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genomicsengland.co.uk

Genomics England @genomicsengland.bsky.social · 10mo 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 · 11mo 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 · last yr.

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 · last yr.

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 · last yr.

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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genomicsengland.co.uk

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."