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The 100,000 Genomes Project

  • Posted on Feb 14, 2018

The 100,000 Genomes Project is being delivered by Genomics England (funded by the Department of Health and Social Care) to find the genes that cause rare diseases such as Osteogenesis Imperfecta.

Who is eligible?

Currently, only patients living in England with Osteogenesis Imperfecta. This particularly applies if no one in your family has had genetic testing or had a gene test but no cause was found. Only one person from each family with OI needs to join.

How do I join?

See your GP or hospital team and ask to be referred to your nearest genetics clinic running the project.

What happens when I am seen at the genetics clinic?

You will be given more information about the project and an opportunity to ask any questions. If you choose to take part you will fill in some consent forms and be asked to give a blood sample.

The results may take some time to be available but will be sent to you and your doctor.

What is the benefit of taking part?

Results may take some time but will be sent to you and your doctor and will find out the underlying cause of your OI. Results will then be used to improve and help our understanding of Osteogenesis Imperfecta for future generations.

How do I find out more?

Check out the website.

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