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.
Participant Stories - Alex (subtitled)
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, as well as his plans for the future.
Source: https://www.genomicsengland.co.uk/alexs-story/
Groundbreaking 100,000 Genomes Project achieves important milestone to transform NHS care