Over 1,300 researchers granted access to the Genomics England Research Environment

  • The number of users with access to the Genomics England Research Environment has more than doubled since our last update in March 2018 – now over 1,300 researchers are working with data from the 100,000 Genomes Project.

The Genomics England Clinical Interpretation Partnership (GeCIP) is an international consortium of researchers, clinicians and trainees, established to improve understanding and practice of clinical genomics, and uncover new medical insights for patients.

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Response to Science and Technology Committee Report on Genomics and Genome Editing in the NHS

The House of Commons Science and Technology Committee has today (20 April) published its report on Genomics and Genome Editing in the NHS.

In response, Sir John Chisholm said:

Sir John Chisholm

Executive Chair

“I welcome the House of Commons Science and Technology Committee Report on Genomics and Genome Editing, published today. The report is a thorough and thoughtful exploration of the tremendous opportunities that genomics offers to the UK – its people, Read more >

Genomics England uses MongoDB to power the data science behind the 100,000 Genomes Project

Genomics England is using data platform MongoDB to power the data science that makes the 100,000 Genomes Project possible. Our partnership with MongoDB allows the processing time for complex queries to be reduced from hours to milliseconds, which means scientists can discover new insights more quickly.

Genomics England, working with the NHS, is sequencing 100,000 genomes from patients with rare diseases and their families, as well as patients with common cancer.

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Over 500 researchers granted access to the Genomics England Research Environment

• Over 500 researchers have been granted access to the Genomics England Research Environment, enabling them to carry out pioneering research on the 100,000 Genomes Project dataset.
• Genomics England has also adopted the bioinformatics platform Galaxy, providing initial access to students on the MSc in Genomic Medicine course with thousands of genomic analysis tools.

The Genomics England Clinical Interpretation Partnership (GeCIP) is an international consortium of researchers, clinicians and trainees, established to improve understanding and practice of clinical genomics,

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Human genome pioneer Professor Sir John Sulston dies

The Wellcome Sanger Institute has announced today the death of their founding director and pioneering scientist, Professor Sir John Sulston.

Sir John founded and directed the Sanger Institute, then Sanger Centre, from 1992 to 2000, leading a historic period of genetic discovery. He led the UK’s contribution to the draft Human Genome, a monumental effort that laid the foundations for the research that is transforming healthcare and understanding of disease today.

Sir John Chisholm,

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Celebrating International Women’s Day – a blog from Joanne Hackett

As part of the BioIndustry Association’s celebration of International Women’s Day today, Genomics England’s chief commercial officer Joanne Hackett will be joining Dr Jelena Aleksic, founder and chief executive of GeneAdviser, at a networking evening to explore the topic of genomics and data protection.

BIA’s Women in Biotech Networking Evenings were created for attendees to connect with women from across the sector, share success stories and hear from inspirational speakers.

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Genomics England appoints global genomics champion as first CEO

Genomics England announces the appointment of its first Chief Executive Officer (CEO) today. Global genomics pioneer Professor John Mattick will join Genomics England in June. He will lead the organisation as work done in the 100,000 Genomes Project provides the foundation for the systems NHS England is mobilising in its ground breaking Genomic Medicine Service.

Sir John Chisholm, Executive Chairman since the foundation of Genomics England in 2013, will hand over executive responsibility to Professor Mattick.

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Ethics and Social Science  – a community in partnership

Last month the Ethics and Social Science Genomics England Clinical Interpretation Partnership (GeCIP) held its first national community meeting in London. Alev Sen, an ESRC-funded PhD Fellow at Genomics England, describes some of the day’s highlights.

It’s not that often that over 100 leading ethics and social science researchers in the field of genomics come together with patients and families, clinicians, scientists, and policy-makers from across the UK to look at how we can contribute to world-class research and inform the future of genomics.  

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Rare Disease Day – embedding patient experience at the heart of rare disease research

As the world marks Rare Disease Day on 28 February, Genomics England explores patient and clinical perspectives of rare disease.

In this blog we hear from Rebecca Middleton − taking part in the 100,000 Genomes project’s rare disease programme and Vice Chair of the Project’s Participant Panel.

In an accompanying blog we hear from Dr Richard Scott, Genomics England’s Clinical Lead for Rare Disease.

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UK leads the world as 100,000 Genomes Project hits the 50,000 genomes landmark to transform NHS patient care

The Department of Health and Social Care, NHS England and Genomics England today announced reaching the 50,000 whole human genome sequences landmark within the 100,000 Genomes Project.

It is a milestone that sets the UK on track to fully realise the potential of genomic medicine, deliver better care for patients and establish the UK as the global ‘go to’ destination in the fast emerging genomics sector.

Genomics England was established in 2013 as a wholly owned company of the Department of Health and Social Care by the Secretary of State,

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Wales joins the 100,000 Genomes Project

Wales has joined the 100,000 Genomes Project, the Welsh Government announced today.  The project, now a UK-wide initiative, seeks to transform patient care, encourage genomic discovery and drive a thriving genomics sector.

In an agreement between Cardiff and Vale University Health Board (CVUHB), Cardiff University and Genomics England (the company leading the Project across the UK), 420 whole genome sequences (WGS) have been commissioned for patients with rare diseases and their families, in Wales.

The 100,000 Genomes Project aims to sequence 100,000 genomes from 70,000 people with rare diseases and their families,

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Verge Genomics joins the Discovery Forum

Verge Genomics joins the Discovery Forum to transform pioneering research into frontline patient treatments.

Genomics England and Verge Genomics, a leading artificial intelligence therapeutics company, announced today that Verge will join Genomics England’s Discovery Forum industry partnership. The partnership aims to translate groundbreaking research into innovative treatments, and ultimately patient benefit, as rapidly as possible.

The Discovery Forum provides an engagement platform for industry partners,

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Genomics England and Inserm partnership strengthens UK-French cooperation in genomic medicine

As part of the UK-French summit held in Sandhurst yesterday (18 January 2018), the UK and French Governments have announced enhanced cooperation between Genomics England and the French ‘Médecine Génomique 2025’ project.

The Strategic Genomic Medicine Partnership marks a strengthening of the existing relationship between Genomics England and the French National Institute of Health and Medical Research (Inserm). Formalising the agreement, senior representatives of both organisations signed a letter of intent for a Memorandum of Understanding (MoU).

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Genomics England adopts Edico Genome’s DRAGEN Bio-IT Platform

Genomics England adopts Edico Genome’s DRAGEN Bio-IT Platform to increase accuracy, consistency of next-generation sequencing analysis

Today (8 January 2018) at the annual J.P. Morgan Healthcare Conference, Edico Genome and Genomics England announced a new partnership to strengthen the accuracy and consistency of next-generation sequencing data analysis in Genomics England’s Rare Disease Pilot.

The partnership will further support Genomics England’s 2018 initiative to making next-generation sequencing (NGS) the standard of care across the UK’s National Health Service in 2018.

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Genomics England appoints two new Non-Executive Directors to its Board – to build strategic, medical and commercial strength

Genomics England has announced the appointment of two new Non-Executive members to its Board. Sir Ron Kerr and Keith Stewart bring a wealth of senior scientific, commercial and managerial experience to Genomics England − providing effective support for the strategic and operational leadership of the organisation.

Genomics England’s new Non-Executive Directors bring highly relevant professional expertise and the ability to engage with stakeholders at every level. They are tasked to ensure the on-going pace,

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Genomics England welcomes the UK Life Sciences Sector Deal

In response to yesterday’s Life Sciences Sector Deal announcement from the UK government, Sir John Chisholm, Executive Chair of Genomics England said:

Sir John Chisholm

Executive Chair

“I warmly welcome the UK Life Sciences Sector Deal announced on 6 December – and congratulate Sir John Bell and all of those who have created a transformative roadmap for Life Sciences in the UK.

From the outset,

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Alex’s Story

In this video, meet participant Alexander Masterson and his mum, Kirsty, who speak about what getting a diagnosis from the 100,000 Genomes Project means to them.

Find out about the rare disease that he was diagnosed with as a child, Noonan syndrome, and how his recent genetic diagnosis of LEOPARD syndrome is changing their view.

Hear from Alex about his experiences of living with his rare disease,

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Discovery Forum – partnership on an industrial scale

– by Joanne Hackett, Genomics England Chief Commercial Officer

Genomics – on an industrial scale

The time for talking about the potential of genomic medicine is past. As England’s Chief Medical Officer (CMO), Dame Sally Davies, writes in her report, Generation Genome: “Genomics is not tomorrow. It’s here today.”

Genomics will transform patient outcomes and healthcare systems – and NHS England is already moving to make a mainstream genomics medicine service a reality.

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