Épisodes

  • S5 E6 - Rare, Not Alone: Genomics England’s Work on Rare Disease with Dr. Richard Scott
    Aug 4 2025

    In our final episode of The Road to Genome season 5, we speak to the CEO of Genomics England Dr Richard Scott about the work of Genomics England, the creation of the Generation Study, and having the tough discussions to drive the future of genomics.

    Dr Richard Scott joined Genomics England in 2015. He is also a Consultant and Honorary Senior Lecturer in Clinical Genetics at Great Ormond Street Hospital for Children and the UCL Institute of Child Health where his practice focuses on diagnosing children with rare multisystem disorders.

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    29 min
  • S5 E5 - The Newborn Genomes Programme with David Bick
    Jul 21 2025

    In the penultimate episode of Season 5, we talk to David Bick - Principal Clinician for the Newborn Genomes Programme at Genomics England, who tells us more about the programme's Generation Study, and how the echoes from the past are helping to usher in the future.

    The Generation Study is a groundbreaking research study which will sequence the genomes of 100,000 newborn babies looking for treatable conditions, with the aim of them being seen by a specialist and receiving treatment before they become unwell.

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    32 min
  • 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