Series 3 Episode 11. Rebecca Goodman. Living well with Bardet-Biedl syndrome.
Send us a textRebecca 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 appetite, insulin resistance and diabetes. Despite this long list of medical issues Rebecca lives independently and enjoys a full and fun life.
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Special episode 5. John Dennis. Research breakthrough in Type 2 diabetes treatment.
Send us a textWe 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 treatments. John’s 5 drug model, published in the Lancet in late February 2025, uses simple clinical information to identify, for the first time, the best glucose lowering treatment for a patient. The model selected best treatment lowers the glucose most, doubles the time before another medication is needed and reduces long term complications of diabetes. See www.1in6b.com for more details.
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Series 3 Episode 10. Julie Reynolds and Kash Patel. Maternally inherited diabetes and deafness
Send us a textJulie 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 inherited diabetes and deafness that results from a change in the mitochondrial DNA. Kash Patel explains the science between diabetes, deafness and a maternal inheritance and why there is a lot of variation in the presence and severity of clinical features
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Series 3 Episode 9. Ru Kovvuri and Rhian Clissold Cognitive and medical impacts of the HNF1B deletion syndrome
Send us a textRu 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.
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Series 3 episode 8. HNF1Beta syndrome: kidney disease, diabetes, liver dysfunction and much more
Send us a textGrant King talks about his diagnostic journey where his low birth weight, childhood kidney disease, diabetes, liver dysfunction and infertility were at 32 years finally recognised as all being due to a change in the HNF1Beta gene. Dr Coralie Bingham explains how her research during her PhD in Exeter led to HNF1Beta being established as the commonest cause of inherited kidney disease and all the key parts of the HNF1Beta syndrome being recognised.
Ireland