Hannah HumphreyParticipant Panel member
My family joined the 100,000 Genomes Project in 2017 to try and find answers to why my daughter was displaying symptoms that where outside of her first diagnosis (22q11 deletion). After 3 and half years, through the 100,000 Genomes Project, we managed to get a diagnosis of a very rare condition (TANGO2). Getting this diagnosis enabled us to support my daughter and enabled to ensure she gets the monitoring and treatment that she needs. I have an interest in reducing the diagnostic odyssey for other families, the Generation Study and working on how results are communicated with families.