Cassi Connelly talks about her experience of having familial partial lipodystrophy characterised by a loss of fat and muscular appearance of her arms and legs. She had multiple medical problems including diabetes for decades before the diagnosi...

Rebecca Goodman talks to Andrew and Maggie about what it is like to grow up with Bardet-Biedl syndrome. Features of Bardet-Biedl syndrome include extra fingers and toes, progressive blindness, kidney problems, obesity due to an uncontrolled app...

We talk to John Dennis, a data science researcher working in the University of Exeter. He used data from 1 million people with Type 2 diabetes to discover how the clinical characteristics of a patient alter the glucose lowering with different t...

Julie Reynolds describes how she gradually lost her hearing in her 30’s and developed diabetes in her 40’s these 2 conditions also developed in in her mother, her children and other maternal relative. This led to a diagnosis of maternally inher...

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 d...