Genomics England
@GenomicsEngland
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We’re working to enable faster and deeper genomic research, to bring genomic healthcare to all who need it.
London
Joined June 2013
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: @DHSCgovuk @NHSEngland
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Last week we marked the 10th anniversary of PanelApp, the Genomics England gene-disease knowledgebase. Read the latest blog to see how PanelApp has evolved over the past decade, and the impact it has had on interpreting genomic data:
genomicsengland.co.uk
PanelApp, Genomics England’s gene-disease association database, has reached its 10th anniversary! Let’s look at how it has evolved over the past decade…
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We are back with a new episode of Behind the Genes!. Our guests discuss how collaborations in AI and genomics are advancing healthcare innovation as well as addressing ethical challenges for responsible deployment of this technology. Listen here:
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Bitcoin’s on fire at $112K! Time to flip the charts on BTCC!.Exploring Cryptocurrency with Jaren Jackson Jr.🏀.
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RT @WHRCImp: Was your baby born early?. Join the PRESTIGE-PTB study! Your experience could help us better understand the genetic reasons fo….
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The National Genomic Research Library (NGRL) securely brings together de-identified genomic data with health records, helping researchers drive discoveries in rare conditions and cancer. Read more about the NGRL:
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Today marks the 10th anniversary of Genomics England's PanelApp!. This gene-disease knowledge base allows experts to share their knowledge of rare conditions and cancer. Currently, there are over 400 publicly available gene panels in PanelApp. Read more:
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"It has been fascinating to learn about the extensive future plans the government has for genomic medicine. Genomics England clearly has an important role to play.". Read more about Samuel Omotosho's experience as an intern, linked below:.
genomicsengland.co.uk
In this blog, Samuel Omotosho shares his experience working as intern in the Health Data Research programme at Genomics England.
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RT @St_GeorgesCRF: 🧬 Make a difference to Black health. Join the Improving Black Health Outcomes (IBHO) BioResource. Fill the questionnair….
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WRECKED. Hirono: Has any court said that DEI is unconstitutional? Yes or no?. Hamilton: Yes. Hirono: Which court?. Hamilton: The United States Supreme Court. Hirono: I disagree with you…. Hamilton: You can go read it yourself. 🔥🔥🔥
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We host regular training sessions designed to support researchers using our Research Environment, including free introductory events for anyone curious about what the Research Environment offers. Register for free:
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Hear from world-leading experts, including the Generation Study team, on the latest advances in newborn sequencing and what they mean for the future of healthcare at the 2025 ICoNS annual meeting. Join us on 23-24 October in London or online:
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Dr Meekai To provides clinical leadership and specific expertise for the Generation Study at Genomics England. Her work is focused on delivery and implementation and she works closely with NHS sites that are recruiting families. Read more in her blog:
genomicsengland.co.uk
A clinician is a healthcare professional who provides direct care to patients, usually in clinical settings such as hospitals. In this blog, Meekai To…
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Our language and terminology guide, developed by the Participant Panel shares recommendations to make conversations about genomics and healthcare more inclusive, clear and respectful. The full guide is available to download on the following webpage:
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38 hospitals across England have now joined the Generation Study. Thank you to all of those across the NHS helping to make this happen. For more information about the study visit:
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There are over 1,650 researchers in our Research Network looking to advance our understanding of rare conditions and cancers. This blog revisits Alfredo Dueñas Rey's work, uncovering genetic causes of rare inherited sight loss:
genomicsengland.co.uk
Researcher Alfredo Dueñas Rey shares how data from the National Genomic Research Library helped him to find genetic causes of rare inherited eye…
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Are genetic conditions always inherited from parents? . Read the latest blog to learn how conditions can pass from parent to child, or how they can arise for the first time in a family, linked below.
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How we talk about genomics and health matters. Our Language Guide, developed by the Participant Panel, shares principles for clear, inclusive and respectful communication, for researchers, clinicians, communicators and more. Read the guide on this page:
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A selection of our monthly Research Seminars are published on our YouTube channel. Each session brings together experts from across the genomics community to share insights, findings and updates on ongoing research. Watch the playlist:
youtube.com
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Our Genomics 101 blog series is designed to make genomics easier to understand, from what a genome is to explaining terms like “no primary findings”. Let us know if there's a topic you would like us to cover next. Explore the series:
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New research led by Genomics England sets out a framework for using genomic newborn screening to help identify rare conditions early. This approach is already being used in the Generation Study. Read more:
genomicsengland.co.uk
Find the contact, social media, service desk, and other important information for Genomics England.
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Around 8 years after joining the 100,000 Genomes Project, Maria received a phone call telling her a diagnosis had been found for her son, Noah. RNU5B-1-related disorder is a recently discovered neurodevelopmental condition. Read Noah's story:
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Always curious and full of energy, Beagles turn every walk into an adventure 🐾🎉.
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Parents, NHS staff, and the public have been involved in the Generation Study from the start, providing input through public dialogues and usability testing to guide the development of the study. Listen to our guests discuss how, in this episode:
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