Great Ormond Street Hospital

Three British men were the first people to be diagnosed with rare diseases last year thanks to the 100,000 Genomes Project. Now the project has achieved another first -- the first children to be diagnosed.

Thanks to genome sequencing, Georgia Walburn-Green and Jessica Wright have now been informed of the exact genetic changes responsible for their previously undiagnosed conditions -- giving them wider treatment options and further support. Their diagnosis may also open the door to other undiagnosed patients with the same diseases.


Both Georgia and Jessica had undergone extensive testing in order to diagnose their conditions -- to no avail. "I had no idea that it was possible to have an undiagnosed condition," said Amanda, Georgia's mother. "I thought you get told you might have a genetic condition, you have the genetic test, and then you get the answer." "As soon as we were on the project I felt a huge sense of relief. I felt that they now had all the information needed to look at the full picture and it just required someone to decipher and understand it. There’s nothing else we could do or give and there would be no other secrets to unlock with Georgia. They had her genome and so the answers had to be there somewhere."

A year later, doctors told the family that they had found Georgia's genetic abnormality in a gene called KDM5b, a protein coding gene.

Jessica Wright was also diagnosed through the program, with an genetic error causing GLUT1 Deficiency Syndrome giving her a range of symptoms including epileptic fits. This diagnosis means her treatment can be altered -- a high dose of epilepsy medication can be lowered in favour of a high fat diet.

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"This is an excellent example of how whole genome sequencing can finally provide the answers that families have been seeking out for years," said Sue Hill, NHS Chief Scientific Officer. "These new insight sets them free to make decisions about the treatment options for their child and how they move forward with future plans for their family." "The 100,000 Genomes Project has put the NHS at the forefront of science, expanding on medical diagnosis and providing a personalised medical treatment plan based on the information that comes from their genome. The more people who come forward to participate in the Project, the greater the body of knowledge there will be to inform diagnoses and patient care in the future."

The project -- as the name suggests -- is set to sequence 100,000 genomes from 70,000 people with rare diseases and cancer in order to create a "genomic medicine service" for the NHS. This will allow more exact diagnosis as well as more effective treatment. It is currently the largest genomics project in the world.

“It is our aim to bring new diagnoses and, if possible, identify potential therapies for participants in the 100,000 Genomes Project," said Professor Mark Caulfield, Chief Scientist at Genomics England. "This is a pioneering project that will transform the application of genomics in our healthcare system.”