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  • Series 3 Episode 15. Tom Staniford. MDP syndrome
    2025/04/29

    Tom Staniford talks about living with the MDP syndrome, an extremely rare genetic condition. MDP syndrome includes Mandibula hypoplasia, Deafness, and Progeroid features amongst its widespread features. Tom developed Type 2 diabetes as a teenager because of a loss of fat under the skin (lipodystrophy) despite being very thin and active. Tom has used his communication and media skills to help other people with MDP syndrome get diagnosed and receive the right care.

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    43 分
  • Series 3 Episode 14: Farah O'Regan and Matt Johnson. Down syndrome and very young onset diabetes
    2025/04/15

    Farah O'Regan talks about how her son who had Down syndrome and a severe congenital heart condition needing surgery diagnosed in pregnancy and then developed Type 1 diabetes on day 2 of life. In early childhood he was diagnosed with 2 more autoimmune conditions, coeliac disease and hypothyroidism. Researcher Matt Johnson explains his research which has established that Down syndrome directly results in very early-onset autoimmune diabetes.

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    33 分
  • Series 3 Episode 13. Abby Gardener and Tim Barrett. Wolfram syndrome / WFS1 Spectrum disorder
    2025/04/01

    Abby Gardener describes how she was diagnosed with Wolfram syndrome after developing both insulin-treated diabetes and diabetes insipidus (when the urine cannot concentrate) and how this has impacted her life. Professor Tim Barrett talks about how, throughout his career, he has been researching and providing care for patients with Wolfram syndrome.

    He explains that it is now recognised that there are a range of features that can result from the genetic change (WFS1 spectrum disorder) and that not every patient will have all the severe changes previously described in Wolframs syndrome.

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    35 分
  • Series 3 Episode 12. Cassi Connelly. Familial Partial Lipodystrophy
    2025/03/18

    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 diagnosis of familial partial lipodystrophy was finally confirmed by a genetic test. Her treatment is now better tailored to her needs.

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    36 分
  • Series 3 Episode 11. Rebecca Goodman. Living well with Bardet-Biedl syndrome.
    2025/03/04

    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 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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    29 分
  • Special episode 5. John Dennis. Research breakthrough in Type 2 diabetes treatment.
    2025/02/18

    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 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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    24 分
  • Series 3 Episode 10. Julie Reynolds and Kash Patel. Maternally inherited diabetes and deafness
    2025/02/04

    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 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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    33 分
  • Series 3 Episode 9. Ru Kovvuri and Rhian Clissold Cognitive and medical impacts of the HNF1B deletion syndrome
    2025/01/21

    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.

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    38 分