Stories from the 100,000 Genomes Project.
Seven year-old Aidan, a patient at Royal Devon and Exeter Hospital, is the first member of the Scholey family to show signs of a rare genetic disorder and his mother Maria hopes the 100,000 Genomes Project will help provide some answers.
His parents got involved in the Project in hopes that “a genetic diagnosis would give us more information about the longer term implications of his condition and how it might develop.”
For more information about the story see the article on the Herald website
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Great Ormond Street Hospital
Jessica, aged 4, recently received a diagnosis of her rare condition. Her diagnosis means a treatment could be recommended too. She took part in the 100,000 Genomes Project, together with her parents, at Great Ormond Street Hospital, part of the North Thames NHS Genomic Medicine Centre. All three donated a small sample of blood and their genomes were sequenced.
Greater Manchester NHS Genomic Medicine Centre
John was suffering from severe chest pain, which was diagnosed as an aortic dissection. Both John’s father and grandfather died as a result of an aortic dissection and John is worried that his two sons may have inherited the condition. His motivation for joining the 100,000 Genomes Project is to identify the faulty gene within his own family and to help others who may be suffering from the same problem.