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’s GeCIP virtual Research Environment comes online

The 100,000 Genomes Project’s primary goal is to transform the NHS: embedding genomic medicine for earlier diagnosis and more effective treatments. At the same time, the Project is tasked with making the resulting data available to researchers across the world to better interpret genomic data − leading to improved clinical understanding and patient outcomes.

In mid June, we took a big step towards achieving our research goals, with the first groups of scientists accessing data from the Project’s main programme.

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The National Initiatives Meeting – genomics around the globe

Three years after the launch of the Global Alliance for Genomics and Health (GA4GH) and six months after the first GA4GH-hosted convention of national genomics initiatives, Kathryn North (Australian Genomics) and Genomics England’s Chief Scientist, Professor Mark Caulfield recently convened representatives from 13 National Initiatives in genomic data collection to discuss areas of potential collaboration at the Wellcome Trust in London.

The goal of the meeting was to identify potential areas of collaboration,

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Whole genome analyses for cancer returned to the NHS within three weeks

One key aim of the 100,000 Genomes Project is to improve cancer care for NHS patients. Whole genome sequencing in cancer can enable clinicians to choose better treatments and improve outcomes for patients through personalised medicine.

While the Project continues to recruit patients and develop the infrastructure for interpreting genomic data at scale, we are delighted that the first four cancer whole genome analyses from our ‘fast track’ project have been returned to the NHS in 18 working days of patient samples being dispatched to our whole genome sequencing pipeline.

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Whole Genome Sequencing to diagnose TB

Scientist working at a DNA sequencing machine

Public Health England has announced that Whole Genome Sequencing (WGS) is now being used to identify different strains of tuberculosis (TB).

This is the first time that WGS has been used as a diagnostic solution for managing a disease on this scale anywhere in the world.  The technique, developed in conjunction with the University of Oxford, allows faster and more accurate diagnoses, meaning patients can be treated with precisely the right medication more quickly.

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Scotland study to probe causes of rare diseases

DNA

People in Scotland with rare genetic diseases are set to benefit from a DNA study that seeks to improve their diagnoses and treatments.

The study – launched by the Scottish Genomes Partnership in collaboration with Genomics England – will analyse the entire genetic make-up of 330 people with rare diseases and members of their family.

Using advanced computing to link genetic data with patients’ health information, scientists hope to pinpoint differences in their DNA code that may be responsible for their condition.

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Rare Disease Day 2017

Today (February 28th) is Rare Disease Day.

Rare disease is a deceptive term. There are 6,000 to 8,000 different rare diseases. So although each one is rare, as a group they are common. So much so, that 1 person in 17, or 7% of people are affected by a rare disease.

About 80% of rare diseases have a genetic cause. The cause is often a single changed ‘letter’ amongst the 3.2 billion letters of DNA that make up the human genome.

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UK Prime Minister Opens New Sequencing Centre

Mike Stratton, Sir John Chisholm, Theresa May, David Bentley, Heidi Allen MP

Today (21st November) Genomics England, Illumina, and the Wellcome Trust Sanger Institute hosted the UK Prime Minister, Theresa May, at the opening of the Bridget Ogilvie Building on the Wellcome Genome Campus in Cambridge. This is where DNA sequencing for the 100,000 Genomes Project takes place.

It is also the site where the UK’s contribution to the original Human Genome Project took place over 15 years ago. The campus is now home to some of the world’s foremost institutes and organisations in genomics.

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Scottish investment in genomic medicine

The Scottish Government Logo

Scottish Genomes Partnership backed by £6 million.

Minister for Sport, Health Improvement and Mental Health, Jamie Hepburn has announced a £6 million investment in the Scottish Genomes Partnership (SGP), ahead of a parliamentary reception to mark Rare Disease Day.

The SGP is a collaboration of Scottish Universities and the NHS capitalising on £15 million investment in whole genome sequencing technology by the Universities of Edinburgh and Glasgow.

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First children receive diagnoses through 100,000 Genomes Project

Georgia Walburn-Green with her parents.

The first children to receive a genetic diagnosis through the 100,000 Genomes Project have been given their results at Great Ormond Street Hospital (GOSH), part of the North Thames NHS Genomic Medicine Centre.

Both Georgia Walburn-Green and Jessica Wright had rare, undiagnosed, genetic conditions when they joined the Project. Whole genome sequencing pinpointed the underlying genetic changes responsible for their conditions.

As well as removing a large amount of uncertainty for the families,

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Northern Ireland joins the 100,000 Genomes Project

senior female patient in hospital

Health Minister in the Northern Ireland Executive, Simon Hamilton, today announced £3.3m investment to create a Northern Ireland Genomic Medicine Centre that will provide rare disease patients with a much earlier and more accurate diagnosis.

It is estimated that 1 in 17 people are born with or develop a rare disease during their lifetime. At least 80% of rare diseases have an identified genetic component, with 50% of new cases being found in children.

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Garvan partners with Genomics England to advance genomic medicine

Mark and John

The Garvan Institute of Medical Research has signed a memorandum of understanding with Genomics England, the organisation established by the UK’s Department of Health to deliver the world-first 100,000 Genomes Project. The two organisations will share resources and expertise to advance genomic medicine in Australia and the UK.

The 100,000 Genomes Project will sequence genomes from around 70,000 National Health Service (NHS) patients, focusing on individuals with rare diseases or cancer.

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Genomics across the Atlantic

Professor Mark Caulfield and Dr. Alan Winter

Genome British Columbia and Genomics England today signed a Memorandum of Understanding (MOU) to pursue a bold initiative to improve diagnostic capability and outcomes for patients with cancer, rare diseases and infectious diseases. The two groups are working together with the ultimate goal of sharing and co-developing information and tools, and a mechanism for the international exchange of knowledge and materials in the field of genomics.

The first phase of the MOU involves building expert working groups to expand and assess some of the best ideas,

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Clinical Interpretation Partnership – Applications Open

The Genomics England Clinical Interpretation Partnership (GeCIP) brings together researchers, clinicians and trainees from academia and the NHS. Applications are now open to consortia of researchers to form domains.

Our vision is to create a powerful research and training programme alongside the 100,00 Genomes Project

GeCIP Domains are UK-led consortia of researchers, clinicians and those in training. Each domain will work on improving the clinical application and interpretation of the data in the 100,000 Genomes Project.

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Clinical Interpretation Partnership topics announced

Genomics England has today (19th June) confirmed which researchers will work on data from the 100,000 Genomes Project, and what topics and disease areas they will be working on.

The researchers, from both academia and the NHS, have come together to form the Genomics England Clinical Interpretation Partnership (GeCIP). Their first meeting takes place today in London.

This is an important milestone. The results from the work of these researchers will enable us to better interpret the genomic data,

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Clinicians, Researchers and Industry collaborate with the 100,000 Genomes Project

GENE Consortium launch event 2015

  • First 10 companies come forward to create the GENE Consortium, to accelerate the development of new diagnostics and treatments for patients
  • Over 28 teams established from amongst the UK’s leading scientific researchers, to analyse the 100,000 genome dataset and identify new scientific and medical breakthroughs

Genomics England has today (26 March 2015) announced a new collaboration as part of the 100,000 Genomes Project, to accelerate the development of new diagnostics and treatments for patients.

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First patients diagnosed through the 100,000 Genomes Project

The first family are set to benefit from ground-breaking developments in whole genome sequencing. Health Secretary Jeremy Hunt will today (Wednesday 11 March) meet the first patients to be diagnosed with rare disease through the 100,000 Genomes Project. They will now receive effective, personalised treatment, as well as helping prevent future generations who share their DNA from suffering a life of uncertainty about similar symptoms.

Newcastle University and Hospitals worked with Genomics England to analyse the genomes and validate the findings as part of the project’s pilot scheme.

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100,000 Genomes Project gains ethical approval to offer NHS patients further information about their genomic results

The 100,000 Genomes Project has now received ethical approval for the main phase of the programme. This is awarded by a Health Research Authority Research Ethics Committee (REC) and is the approval of the project’s Protocol which includes the information which will be given to everyone participating in the study. The 100,000 Genomes Project aims to help NHS patients and their families by offering them a genetic diagnosis where they did not have one, plus the prospect of more choices in their care and better,

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Genomics England’s Response to President Obama’s Precision Medicine Initiative

Professor Mark Caulfield, Chief Scientist for Genomics England:

We welcome the announcement from President Obama.

Scientific and medical progress requires the long term commitment and collaboration of researchers across the globe.

The UK’s National Health Service offers a unique environment in which to transform the application of Genomic Medicine into patient benefit. The 100,000 whole genome sequencing project is focused on patients with rare inherited diseases, cancer and infection and will generate a lasting legacy of NHS Genomic Medicine Centres,

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NHS Genomic Medicine Centres announced for 100,000 Genomes Project

NHS England has announced eleven Genomic Medicine Centres that will lead the way in delivering the 100,000 Genomes Project. This marks the start of the main phase of the Project in 2015.

It is anticipated that there will be over 75,000 participants, which will include some patients with life threatening and debilitating disease. The GMCs will begin recruitment to the project from 2nd February 2015.

After samples are collected, they will be sent securely to Illumina,

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