
One in Six Billion
A podcast about diabetes and genes hosted by Andrew Hattersley and Maggie Shepherd.
One in Six Billion
Series 3 Episode 9. Ru Kovvuri and Rhian Clissold Cognitive and medical impacts of the HNF1B deletion syndrome
•
Andrew Hattersley and Maggie Shepherd
•
Season 3
•
Episode 9
Ru Kovvuri explains about her battle to get a diagnosis and support for her daughter who had multiple medical problems and learning difficulties as a result of a deletion of the HNF1B gene. Rhian Clissold discusses her research to improve the diagnosis of the HNF1B syndrome and recognise the associated learning difficulties seen with loss (deletion) but not the spelling mistakes (mutations) in the HNF1B gene.