National Conversation on Rare Diseases survey

In July, the Minister for rare disease at the Department for Health and Social Care, Baroness Blackwood, announced a ‘national conversation’ on rare disease. This conversation aims to gather a range of views from the rare disease community to identify common themes which will then feed into an overarching framework to follow the UK Strategy on Rare Diseases, which runs until the end of 2020.

To start the conversation, the Department of Health and Social Care have developed surveys to collect views from the patient community,

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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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Saint Mary’s Hospital becomes the first NHS Genomic Medicine Centre to recruit patients to the 100,000 Genomes Project

The first patient was recruited to the main phase of the ground-breaking 100,000 Genomes Project this week. The important milestone follows on from the pilot phase of the project which announced the first diagnosis earlier this month.

Michelle Holding, 32, was recruited to the project via Saint Mary’s Hospital, which is part of the Greater Manchester NHS Genomic Medicine Centre.

The hospital is one of 11 NHS Genomic Medicine Centres across the country that will lead the delivery of the 100,000 Genomes Project,

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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 announces successful companies in Small Business Research Initiative (SBRI) for a share of £8 million

close up illustration of DNA

Genomics England today (11 March 2015) announced the successful companies in its Small Business Research Initiative (SBRI) Phase Two assessment of Enabling Technologies for Genomics Sequence Data Analysis and Interpretation.  £8 million is being made available for the product development stage of the competition with the companies adopting a programme of 12 to 24 months each.

This competition seeks development of technological innovations that will enhance genomic sequence data analysis capabilities.

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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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Genomics England calls on the UK research community

Genomics England is today inviting applications to join our new Clinical Interpretation Partnership from UK researchers, NHS Clinicians and those in training where they will work on the unique data resource from the 100,000 Genomes Project.  The goal of the Genomics England Clinical Interpretation Partnership (GeCIP) is to bring together the best researchers in the UK alongside their key international collaborators to ensure we maximise the potential of gaining new biological insights into rare inherited diseases,

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Genomics England publishes results of its annotation assessment

Genomics England, the company leading the UK’s 100,000 Genomes Project, has released details of those companies that distinguished themselves in its annotation assessment exercise. Genomics England is committed to kick-starting the development of a UK genomics industry and this assessment exercise is part of that aim, as well as to evaluate and select potential service providers for the 100,000 Genomes Project.

Genomics England sent an Annotation Assessment Questionnaire to twenty eight participants together with the BAM and Variant Call Format files in respect of ten cancer/normal samples and fifteen rare disease trio samples in February 2014.

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UK to become world number one in DNA testing with plan to revolutionise fight against cancer and rare diseases

The UK is set to become the world leader in ground-breaking genetic research into cancer and rare diseases, which will transform how diseases are diagnosed and treated, thanks to a package of investment worth more than £300million, the Prime Minister will announce today.

The four year project will allow scientists to do pioneering new research to decode 100,000 human genomes – a patient’s personal DNA code. The landmark project is on a scale not seen anywhere else in the world and is part of the Prime Minister’s commitment to ensure the NHS as well as the UK’s research and life science sector is at the forefront of global advances in modern medicine.

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Genomics England one of 2014’s 50 Smartest Companies

Genomics England has been recognised as one of 2014’s 50 Smartest Companies in MIT Technology Review’s annual list of the world’s most innovative technology companies.

The companies honoured are nominated by MIT Technology Review’s editors, who look for companies that have demonstrated original and valuable technology over the last year, are bringing that technology to market at significant scale, and are clearly influencing their competitors.

Jason Pontin,

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First patients with rare inherited diseases are sequenced by Genomics England

Patients with rare inherited diseases have started providing samples of their blood so the whole of their DNA can be sequenced by Genomics England.

Patients with conditions ranging from heart disease to deafness which appear to be caused in part by an inherited gene have been included.

Genomics England plans to take 2,000 samples, from more than 600 patients and their mother and father, or other immediate family member, for whole genome sequencing.

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Software innovators being invited to bid for share of £10 million fund

Businesses are being offered a share of £10 million to develop cutting edge technology to analyse and better interpret significant variations in the DNA of NHS patients with serious illnesses.

The Department of Health and Genomics England are inviting innovators to develop high-tech software products that will support its goal to sequence and better understand genomes for NHS patients with cancer and rare inherited diseases.

Developments in computer software could improve the reports to NHS doctors and the feedback they give to patients of what whole genome sequencing has found,

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Genomics England launched, mapping DNA to better understand cancer, rare and infectious diseases

Jeremy Hunt MP

The government’s major drive to introduce high-tech DNA mapping for patients will start by tackling cancer, rare diseases and infectious diseases, Health Secretary Jeremy Hunt announced today, the NHS’ 65th birthday, alongside plans to make the NHS a personal service for every patient.

In December Prime Minister David Cameron announced that the personal DNA code – known as a genome – of up to 100,000 patients or infections in patients will be sequenced over the next five years.

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