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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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.

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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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Genomics England selects QIAGEN hereditary and rare disease solution

Genomics England today announce that it has selected QIAGEN’s HGMD® Human Gene Mutation Database for the 100,000 Genomes Project. HGMD is the leading content knowledgebase for interpretation of genomic data in hereditary and rare diseases, providing a deep resource of expertly curated data from the world’s scientific and clinical literature.

The 100,000 Genomes Project will use QIAGEN’s HGMD Online Professional solution, which is part of the QIAGEN Clinical Insight (QCI) portfolio of solutions for the interpretation of complex genomic data,

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Rare Disease Day 2016

Rare Disease Day logo

Our clinical lead for rare disease, Dr Richard Scott, gives an update on our work. February 29th 2016 is Rare Disease Day.

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

Until recently,

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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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Genomics England Contracts with WuXi NextCODE as Clinical Interpretation Partner in both Rare Disease and Cancer

Nextcode logo

Genomics England has today announced that it has contracted with WuXi NextCODE as a Clinical Interpretation Partner for the 100,000 Genomes Project. The China, US and Iceland-based company is the first to work with them on cancer samples and will also interpret samples in rare disease. Genomics England will work with the clinical interpretation partners to drive up the quality of interpretation of genomic data. This will lead to better understanding of disease and more personalised care for patients in the future.

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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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New rare disease gene tool launched – PanelApp

PanelApp

Genomics England has developed a unique resource, the ‘PanelApp’. It is a new crowdsourcing tool for the scientific community, allowing knowledge of rare disease genetics to be shared and evaluated. This will create comprehensive evidence-based gene panels for rare diseases. The resource is publically available for anyone who would like to view and download the gene panels. Experts can register as a reviewer to make evaluations of the gene panels.

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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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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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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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