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 Professor 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,

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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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The 100,000 Genomes Project by numbers

This update gives you the number of whole genomes sequenced so far against our target of 100,000. This figure is updated every month.

Thank you to everyone who has taken part and helped us to achieve this!

For background on our progress, see our previous update.

Genomes Sequenced = 50,065

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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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Genomics England welcomes the appointment of new UK government chief scientific adviser

The Cabinet Office has announced this week the appointment of Dr Patrick Vallance as the new government Chief Scientific Adviser. Dr Vallance, who is currently President of Research and Development at GlaxoSmithKline, will take up the post in Spring 2018.

Sir John Chisholm, Executive Chair at Genomics England welcomes the appointment:

I am delighted at Patrick Vallance’s appointment as the new Government Chief Scientific Adviser. Patrick is one of science and technology’s strongest and most passionate advocates – built on deep experience of academia and industry.

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PanelApp Version 2 Launched

A new and improved release of PanelApp

Visit our dedicated PanelApp page to learn more about our publicly accessible crowdsourcing tool for virtual human disease gene panel creation, storage and querying.

The diagnostic grade ‘Green’ genes and their modes of inheritance in the PanelApp virtual gene panels are used to direct the variant tiering process for the interpretation of genomes in the 100,000 Genomes Project.

What’s new in V2? Read more >

British Heart Foundation Chief Executive joins the 100,000 Genomes Project

The British Heart Foundation‘s Chief Executive, Simon Gillespie, has recently become a 100,000 Genomes Project participant as a result of his inherited, and unexplained, high cholesterol. He has been speaking about his motivation and expectations this week.

Simon (left) during his initial consultation at Guy’s Hospital, where he was recruited to the Project by Professor Anthony Wierzbicki (not pictured) – image from BHF

Video by the British Heart Foundation

Our Chief Scientist,

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Genomics England partners with Inivata and Thermo Fisher Scientific

Genomics England partners with Inivata and Thermo Fisher Scientific to unlock the genomic secrets of blood plasma – and improve our understanding of cancer

Genomics England has announced today a new industry collaboration with leading life sciences companies Inivata and Thermo Fisher Scientific to improve understanding of cancer. The pilot project aims to assess the quality of blood plasma samples and explore the potential of liquid biopsy testing to improve disease management and patient outcomes.

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Helping apprentices lead the field in big data

Anglia Ruskin and Wellcome Trust Sanger Institute team up to deliver new training

Anglia Ruskin University and the Wellcome Trust Sanger Institute have received funding from the Higher Education Funding Council for England (HEFCE) to launch a new degree apprenticeship in Data Science in September 2018.

Anglia Ruskin has been supported in its application by several global companies involved in genetics and computational biology,

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Genomics England Responds to Report from Life Sciences Sector

In response to a report by Sir John Bell to the UK government, Sir John Chisholm, Executive Chair of Genomics England said:

Sir John Chisholm

Executive Chair

See the full report here.

“Genomics England welcomes Sir John Bell’s report to government from the life sciences sector – recognising as it does the critical role that genomics will play in the future health, well-being and economic prosperity of this country. Read more >

GENE Consortium legacy steers industry cooperation at Genomics England

GENE Consortium launch event 2015

On 26 March 2015, Genomics England launched a groundbreaking collaboration with academia, NHS Genomics Medicine Centres (GMCs) and the biomedical and pharmaceutical industries. Known as the Genetics Expert Network for Enterprises (GENE) Consortium, its goals have been ambitious – to align the needs of all sectors to ensure that genomics discoveries are translated into medical treatments, and embedded into mainstream NHS care, as quickly as possible.

GENE has involved 13 private companies working pre-competitively with Genomics England.

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