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,

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,

Read more >

Project Milestones for our Genomic Medicine Centres

This month we’ve been celebrating four milestones for our brilliant recruitment teams across the country. The 100,000 Genomes Project could not exist without all the hard work of multi-disciplinary teams on the front line in the clinic, who speak to patients about the project and sign them up to be involved as participants.

NHS England established the Genomic Medicine Centres (GMCs) and clinicians based in those areas are working hard to find more people eligible to join the project.

Read more >

The 100,000 Genomes Project Update

Scientist working at a sequencing machine

By Sir John Chisholm, Executive Chairman, Genomics England.

As many NHS Genomic Medicine Centres are gearing up to organise local activities to mark Rare Disease Day next week (28th February), the 100,000 Genomes Project is making great progress.  All thirteen NHS Genomic Medicine Centres are recruiting rare disease and cancer patients to the Project, and initiatives in Scotland, Northern Ireland and Wales have agreed to join us in this world leading programme.

Read more >

A Year of Conversations about Genomics

By Vivienne Parry OBE, Head of Engagement at Genomics England

When we began the 100,000 Genomes Project, our initial engagement work was with potential participants, affected both by rare disease and cancer. We wanted to know what their principal concerns were. They turned out to be both practical – for instance, what the impact of results might be on their families or if they might be disadvantaged financially by taking part – and ethical,

Read more >

The 100,000 Genomes Project features in London’s Science Museum

The Science Museum’s Our Lives in Data exhibition highlights the technology revolution that will impact our lives.

More information about our lives is being captured than ever before, and as the amount of data collected grows so does the debate around data ownership.

The Science Museum’s newest exhibition, Our Lives in Data, will uncover some of the diverse ways our data is being collected, analysed and used.

A person’s full DNA sequence – their genome – generates around 200GB of data.

Read more >

Latest from the 100,000 Genomes Project

George Freeman MP

Across England patients with cancer are now being recruited to the main phase of the 100,000 Genomes Project, giving the fight against cancer a significant boost. Minister for Life Sciences George Freeman MP announced the news at the Festival of Genomics in London yesterday.

Speaking at the conference, the Minister also announced that the government has committed a further £250 million in funding for genomics as part of the recent Spending Review.

Read more >

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,

Read more >

100,000 Genomes Project Update

The main phase of the 100,000 Genomes Project has now begun with 11 Genomic Medicine Centres announced in December 2014 and the first patients recruited in March. Here we report our progress, as well as the sequencing from the pilot project that is well underway. We are working on how best to integrate our service into the NHS as well as how we can best analyse tumour samples donated by cancer patients.

Read more >

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,

Read more >

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.

Read more >

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,

Read more >

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.

Read more >