One in Six Billion

Andrew Hattersley and Maggie Shepherd
  • 5.0(5개의 평가)
  • 의학
  • 격주 업데이트
One in Six Billion

A podcast about diabetes and genes hosted by Andrew Hattersley and Maggie Shepherd.

  1. 1일 전

    Series 3 Episode 10. Julie Reynolds and Kash Patel. Maternally inherited diabetes and deafness

    Send us a text 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 o...

    33분

  2. 1월 21일

    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.

    38분

  3. 1월 7일

    Series 3 episode 8. HNF1Beta syndrome: kidney disease, diabetes, liver dysfunction and much more

    Send us a text Grant 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.

    48분

  4. 2024. 12. 24.

    Series 3 episode 7. Natalie Raphael and Alice Hughes Testing fetal genetics using mum’s blood in Glucokinase pregnancy

    Send us a textNatalie Raphael was diagnosed as having glucokinase MODY at the end of her first pregnancy. In her second pregnancy she had a recently introduced blood test that showed her fetus had not inherited her change in the glucokinase gene so was at risk of growing large. As a result of this she was given long-acting insulin to lower her glucose. Alice Hughes is the researcher who did the key study that proved the new blood test was both practical and accurate in glucokinase pregn...

    37분

  5. 2024. 12. 10.

    Series 3 episode 6. Gill Preston, Gill Spyer, and Ali Chakera The challenge of diagnosing and managing glucokinase MODY in pregnancy

    Send us a textIt was a great surprise for Gill Preston, who was active and slim, when she was diagnosed with gestational diabetes in her first pregnancy. Her raised fasting glucose did not come down with tablets or insulin. Luckily she met Andrew Hattersley in the diabetes pregnancy clinic, who recognised she had glucokinase MODY. Gill Spyer, working for her PhD as a research doctor showed that in glucokinase pregnancy the size of the baby depended on whether they inherited the genetic change...

    38분

  6. 2024. 11. 26.

    Series 3 episode 5. Andrew Lotery and Amanda Stride: Glucokinase MODY – a mildly raised fasting glucose for life that should not be treated

    Send us a textIn this episode we talk to Andrew Lotery about how he was found to have a raised fasting glucose on an insurance medical. He was treated as Type 2 diabetes but he questioned this as he was young. slim and physically fit. A chance reading of a research funder’s newsletter led him to the Exeter team and a diagnosis of glucokinase MODY. Amanda Stride worked as a research registrar in Exeter. She showed that in glucokinase MODY the fasting glucose was raised from birth a...

    33분

  7. 2024. 11. 12.

    Series 3 episode 4. Janette and Alice: Big babies with dangerously low blood sugars in HNF4A MODY

    Send us a textIn this episode we talk to Janette and her daughter Alice who were both correctly diagnosed with HNF4A MODY having been initially told they had Type 1 diabetes. The diagnosis not only allowed them to stop insulin but also explained the mystery of two of Jeanette’s children that were born as large babies and collapsed soon after birth with low blood sugar. Andrew explains how it was discovered that babies that inherited the HNF4A genetic change were on average over 800g heavier a...

    34분

  8. 2024. 10. 29.

    Series 3 episode 3. Mary Lee and Ewan Pearson: Finding the best treatment for HNF1A MODY

    Send us a textMary Lee was thought to have Type 1 diabetes for over 3 decades; she was finally diagnosed with HNF1A MODY and was able to stop her insulin injections and get excellent blood sugar control with a sulphonylurea tablet. We hear from Ewan Pearson how sulphonylurea tablets were found to be excellent glucose lowering treatment when Andrew’s clinical observations of his HNF1A MODY patients were followed up by Ewan with a clinical trial.

    28분
모두 보기(33개)

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5개의 평가

소개

A podcast about diabetes and genes hosted by Andrew Hattersley and Maggie Shepherd.

정보

  • 제작진
    Andrew Hattersley and Maggie Shepherd
  • 방송 연도
    2023년 - 2025년
  • 에피소드
    33
  • 등급
    전체 연령 사용가
  • 저작권
    © 2025 One in Six Billion
  • 웹사이트 보기
    One in Six Billion

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