Épisodes

  • S5 E4 - The role of the Chief Nursing Officer - paving the way for genomics in Nursing & Midwifery
    Jul 7 2025

    In this episode of The Road to Genome, we speak to Dame Janice Sigsworth, Chief Nursing Officer, about her path into the world of genomics, and the work being done to share and awaken the knowledge of genomics in the workforce.

    Genomics touches us all in many ways, and brings it's own challenges and successes to those both in and out of the NHS workforce.

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    45 min
  • S5 E3 - Becoming a Clinical Scientist, with Nikki Smith, STP trainee
    Jun 23 2025

    In this episode, Helen talks to Nikki Smith, trainee on the STP (Clinical Scientist Training) programme at Guy's & St Thomas' NHS Foundation Trust.

    Nikki has taken many twists and turns to get to her current role on the STP programme, and shares with us about her experiences on the programme, the many inspiring people she has worked with, and her overriding drive to learn more and make a difference to patient's lives through science.

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    50 min
  • S5 E2 - DHDDS: Turning a Diagnosis into a Global Support Network
    Jun 9 2025

    In this episode, Helen is in Guy's Hospital London, supported by the South East Genomic Medicine Service, talking to Mel Dixon about her experience with the rare genetic condition DHDDS.

    After two of Mel's children were diagnosed with DHDDS, Mel and her husband Charlie founded Cure DHDDS, a charity set up to raise awareness, support families and help drive research into the ultra-rare DHDDS gene mutations. Mel tells us about their experience as parents dealing with the journey through the diagnostic pathway, and setting up a global support network for other families affected by this condition.

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    32 min
  • S5 E1 - Genomics from both sides, a patient and professional perspective with Eddie Blair
    May 26 2025

    In this first episode of our new season, Helen Bethell is at the School of Clinical Medicine, Addenbrooke's Hospital in Cambridge, talking to Eddie Blair, Vice-Chair of the Patient & Public Voice Forum for the East Genomic Medicine Service.

    Eddie shares his career journey through microbiology and virology, along with his experience as a genomic patient. Having received a diagnosis of prostate cancer, Eddie shares his perspective on the genomic world from both a professional and personal angle.

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    42 min
  • S4 E6 - Hereditary Brain Aneurysm - From Patient Journey to Pioneering Support, with Rebecca Middleton
    Mar 24 2025

    In this episode of The Road to Genome, we interview Rebecca Middleton at Leicester Royal Infirmary. Rebecca talks to us about her experience as a patient with a hereditary brain aneurysm, through the diagnosis and treatment, and the rollercoaster of emotions this brings.

    She also tells us about Hereditary Brain Aneurysm Support, an organisation Rebecca set up to support and inform people living with familial brain aneurysms and raise awareness of the condition as a rare disease, representing the lived experience and improving and saving lives.

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    55 min
  • S4 E5 - Embedding Genomics into Nursing & Midwifery in the South East with Dr Tootie Bueser
    Mar 10 2025

    In this episode of The Road to Genome, Dr Tootie Bueser Director of Nursing & Midwifery in the South East GMS, talks to us about her work embedding Genomics into Nursing & Midwifery practice across the south east, from Brighton to the South of London.

    In Tootie's other role as NIHR Senior Clinical Practitioner Researcher, we also learn about Tootie's work growing research into inherited cardiac conditions at King's College.

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    26 min
  • S4 E4 - Specialist Midwives Beth Evans & Nicola Young - Monogenic Diabetes and the Pregnancy Pathway
    Feb 24 2025

    In this episode of The Road to Genome, Helen has two guests on the other side of the mic! Beth Evans and Nicola Young explain what Monogenic Diabetes is, and why it is so crucial (and tricky) to catch in pregnant people.

    Beth and Nicola show us the power of the right diagnosis at the right time, not only for patients, but their children and families too, right now and in the future.

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    36 min
  • S4 E3 - The Future of Genomics, Genomics England Chief Medical Officer Ellen Thomas
    Feb 10 2025

    In this episode, Helen talks to Genomics England's Chief Medical Officer Ellen Thomas, discussing her career path to date, and her role in helping to shape the direction of travel for Genomics. We also hear more about the Generation Study, and where we're heading.

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    28 min