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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 use…
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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…
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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.…
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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 t…
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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 independent…
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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 inform…
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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 sc…
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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…
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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 commones…
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Natalie 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 Hug…
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It 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…
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In 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 …
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In 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…
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Mary 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 obs…
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Kevin Colclough describes how the genetic testing in diabetes has improved over the 2 decades he has worked in the Exeter NHS diagnostic lab. His work means now over 60 types of single gene diabetes are looked for in one sequencing test. Bev Shields talks about how she developed the amazing MODY calculator that uses common clinical characteristics …
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Mary Humphries tells how her son Dan was diagnosed with diabetes aged 16 and it was assumed he had type 1 diabetes and treated with insulin. On insulin he had terrible problems with low blood sugars frequently losing consciousness and not managing to concentrate at school or at home. Mary was very worried that he was getting worse on the insulin an…
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Dr Nick Thomas talks about Type 1 diabetes in the older adult. In an iconoclastic study he showed most cases of Type 1 diabetes occur in adults rather than children. In older adults it is very hard to recognise as 98-99% of people with diabetes have Type 2 diabetes. Older adults with Type 1 diabetes have just as rapid a decline in their own insulin…
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Simon Goode was diagnosed with Type 2 diabetes aged 28. He explains how it took 6 months of feeling unwell before it was realised he had Type 1 diabetes instead. Exeter Professor, Angus Jones, has done research showing that mistakes in the diagnosis Type of 1 diabetes are common in the older adult and offers solutions to help doctors get the diagno…
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Dr Jean Claude Katte explains how in Sub Saharan Africa diagnosis, treatment and monitoring of Type 1 diabetes in children and young adults is so much harder than in Europe. He discusses with Maggie and Andrew his own exciting research that has shown that around 60% of African children with diabetes do not have the typical autoimmune Type 1 diabete…
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We hear from Mendy Korer about the enormous challenges of living with a child who was diagnosed with Type 1 diabetes aged 11 months. Matt Johnson, a research fellow in Exeter talks about his exciting work understanding what makes the immune system destroy the insulin making beta-cells in very young children. Send us a text…
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Professor Richard Oram had the innovative idea of turning complex analysis of the genetic changes into a single number that estimate the likelihood of developing Type 1 diabetes. He explains to Andrew and Maggie how this has helped diagnosis of Type 1 diabetes and is being used around the world in studies aiming to prevent or delay diabetes in chil…
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Professor Partha Kar has made sure the technical advances in measuring blood sugar are available to everyone living with Type 1 diabetes in the UK. Partha had to overcame massive hurdles to make sure the technology was not just available to a privileged few. He discusses with Maggie and Andrew his inspirational leadership style and philosophy that …
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Jean Dudderidge and Jill Epton talk about what it has been like to live with Type 1 diabetes for over 50 years. They discuss the massive advances in the measurement of blood sugar over the decades and how they now benefit greatly from continuous glucose monitoring. Send us a textBy Andrew Hattersley and Maggie Shepherd
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We talk to Tim Frayling and Rachel Freathy about how they discovered the “Fat gene”. Working with Oxford, the Exeter team showed a genetic change near FTO predisposed to obesity. This was the first and largest common genetic change altering weight. Send us a textBy Andrew Hattersley and Maggie Shepherd
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In this special episode, we hear from Professor Tim Frayling who was Andrew and Sian’s first PhD student in 1995. He rapidly became the head of the analysis for the genetic susceptibility for Type 2 diabetes. His leadership has made Exeter an international leader in polygenic trait genetics. Send us a text…
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In this special episode, we hear from Professor Sian Ellard who, like Andrew and Maggie, started in Exeter in 1995. Sian set up the Exeter molecular genetics laboratory from scratch. Through Sian’s leadership, this laboratory became world leading for both research and NHS diagnostic testing. Send us a text…
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In this episode, Maggie and Andrew talk to Imran Bashir about the difficult journey he and his family have been on since his daughter was born without a pancreas. They also hear from star scientist Dr Elisa De Franco about the long and challenging scientific journey to solve the genetic mystery of why her pancreas did not develop. Send us a text…
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In this special episode Andrew Hattersley talks with co-presenter Maggie Shepherd to identify what led to her joining the Exeter team in 1995 and ending up becoming the leading nurse for monogenic diabetes with a role combining clinical care, research and education Send us a textBy Andrew Hattersley and Maggie Shepherd
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In this episode, Maggie and Andrew start by talking to Carsyn Underwood and her mums Karla and Donna about Carsyn’s diagnosis of neonatal diabetes and how she got the right treatment very early and had an the excellent outcome as a result,. They go on to talk to Professor Tim McDonald, a top NHS laboratory scientist, who has been researching into h…
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In this episode, Maggie and Andrew talk to Dr Pam Bowman, the doctor scientist, whose research has greatly advanced our understanding of neonatal diabetes. Pam showed treatment with sulphonylurea tablets control the glucose excellently in the long term and she transformed our understanding of how thinking, and development are altered by the change …
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In this episode Maggie and Andrew talk to Dame Frances Ashcroft the remarkable Oxford scientist who has dedicated her life to understanding the key role of potassium channel in insulin secretion by the pancreatic beta-cell. Her work was crucial both before and after the Exeter genetic discovery in neonatal diabetes Send us a text…
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In this episode, we hear from Laurie and Mike Jaffe from Chicago, USA. They spread the word about neonatal diabetes to over 100M people around the world by an inspirational media campaign focused on their daughter, Lilly and how the diagnosis and resulting treatment change transformed her life. Send us a text…
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In this episode we hear from Agnes Graja and Helen John, two of the national team of Genetic Diabetes Nurses that spread the news about neonatal diabetes across the UK. They identified and improved treatment in insulin-treated adults who had been diagnosed with diabetes in the first 6 months of life. Send us a text…
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In this special episode Maggie Shepherd talks with co-presenter Andrew Hattersley exploring what led to him ending up as a research scientist and diabetes consultant in Exeter in 1995. They go back into how he became a doctor and what took him into research including surprising revelations about a transformative time in Africa as an 18-year-old! Se…
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In this episode we hear about how sulphonylurea tablets were discovered to be an unexpected. and remarkably effective, new treatment for neonatal diabetes. Maggie and Andrew talk to Professor Ewan Pearson, the doctor scientist, who worked with doctors around the world to prove how good this treatment was and how it worked. More on www.1in6b.com Sen…
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