
Sign up to save your podcasts
Or


If you have a rare genetic disorder, new technology that allows your genetic code to be analysed means you could have a diagnosis within weeks. Before, people with rare diseases would often go their entire lives without a diagnosis. It's a revolutionary advancement but does it change how patients are treated or help improve their wellbeing?
Presenter James Gallagher meets Lisa whose daughter Jaydi was born with a rare genetic disease that affects her growth, speech, eyesight and a number of other conditions. We hear the story of Lisa and Jaydi's journey to diagnosis through Exeter University's Deciphering Developmental Disorders (DDD) study, and how it changed the course of Jaydi's life.
Her clinician, Consulatant Clinical Geneticist Dr Emma Kivuva, tells James how the diagnosis impacted on the care they offered and Dr Caroline Wright, Genetics & Genomics Theme Lead on the DDD study explains how they are measuring the effect of diagnosis on patient treatment and wellbeing.
This programme was produced in partnership with The Open University.
Presenter: James Gallagher
By BBC Radio 44.5
7373 ratings
If you have a rare genetic disorder, new technology that allows your genetic code to be analysed means you could have a diagnosis within weeks. Before, people with rare diseases would often go their entire lives without a diagnosis. It's a revolutionary advancement but does it change how patients are treated or help improve their wellbeing?
Presenter James Gallagher meets Lisa whose daughter Jaydi was born with a rare genetic disease that affects her growth, speech, eyesight and a number of other conditions. We hear the story of Lisa and Jaydi's journey to diagnosis through Exeter University's Deciphering Developmental Disorders (DDD) study, and how it changed the course of Jaydi's life.
Her clinician, Consulatant Clinical Geneticist Dr Emma Kivuva, tells James how the diagnosis impacted on the care they offered and Dr Caroline Wright, Genetics & Genomics Theme Lead on the DDD study explains how they are measuring the effect of diagnosis on patient treatment and wellbeing.
This programme was produced in partnership with The Open University.
Presenter: James Gallagher

7,724 Listeners

880 Listeners

1,039 Listeners

400 Listeners

5,541 Listeners

1,815 Listeners

1,828 Listeners

1,062 Listeners

769 Listeners

93 Listeners

267 Listeners

433 Listeners

247 Listeners

84 Listeners

475 Listeners

272 Listeners

643 Listeners

205 Listeners

148 Listeners

3,167 Listeners

755 Listeners

201 Listeners

1,639 Listeners

2,078 Listeners

111 Listeners