Folgen

  • Donor Conception and Genomics: Sperm, Eggs, Embryos, Mitochondria

    Donor Conception and Genomics: Sperm, Eggs, Embryos, Mitochondria
    Mar 2 2026
    This episode of the Progress Educational Trust (PET) podcast discusses the genetics and genomics of various forms of donor conception, and related scientific and ethical issues.

    The discussion – which originally took place at the PET Annual Conference – is introduced by Sarah Norcross (Director of PET) and chaired by Professor Karen Sermon (former Chair of the European Society of Human Reproduction and Embryology), with contributions from:

    ⚫ Professor Stéphane Viville (founder of the Genetics of Infertility Unit at the University Hospitals of Strasbourg)

    ⚫ Professor Dagan Wells (Professor of Reproductive Genetics at the University of Oxford and Director of Juno Genetics)

    ⚫ Professor Michael Parker (Director of the Ethox Centre and of the Global Health Bioethics Network)

    ⚫ Debbie Kennett (Genetic Genealogist)

    PET is grateful to the European Society of Human Reproduction and Embryology for supporting this discussion.

    PET is also grateful to Jon Nicoll, who created the opening and closing music for its podcast.

    Register at https://www.progress.org.uk/events/upcoming-events/ for upcoming PET events.
    Mehr anzeigen Weniger anzeigen
    53 Min.
  • Polygenic Risk, Polygenic Scores, Polygenic Indices: What Are They? What Should Be Done with Them?

    Polygenic Risk, Polygenic Scores, Polygenic Indices: What Are They? What Should Be Done with Them?
    Feb 23 2026
    This episode of the Progress Educational Trust (PET) podcast discusses the science and ethics of PGT-P – a controversial form of preimplantation genetic testing that uses polygenic scores, rather than using more traditional forms of genomic data.

    The discussion – which originally took place at the PET Annual Conference – is chaired by Dr Philip Ball (science writer and broadcaster), with contributions from:

    ⚫ Dr Emma Meaburn (Behavioural Geneticist at Birkbeck University of London)

    ⚫ Dr Dorit Barlevy (Senior Researcher at Baylor College of Medicine)

    ⚫ Professor Angus Clarke (Emeritus Professor of Clinical Genetics at Cardiff University)

    PET is grateful to the British Fertility Society for supporting this discussion.

    PET is also grateful to Jon Nicoll, who created the opening and closing music for its podcast.

    Register at https://www.progress.org.uk/events/upcoming-events/ for upcoming PET events.
    Mehr anzeigen Weniger anzeigen
    35 Min.
  • The Origins of Preimplantation Genetic Testing

    The Origins of Preimplantation Genetic Testing
    Feb 16 2026
    This episode of the Progress Educational Trust (PET) podcast features Professor Alan Handyside – a pioneer of preimplantation genetic testing – explaining how and why it became scientifically possible, and also legally permissible, to test the DNA of IVF embryos.

    This discussion – which originally took place at the PET Annual Conference – is introduced by Sarah Norcross (Director of PET) and chaired by Dr Philip Ball (science writer and broadcaster).

    PET is grateful to Jon Nicoll, who created the opening and closing music for its podcast.

    Register at https://www.progress.org.uk/events/upcoming-events/ for upcoming PET events.
    Mehr anzeigen Weniger anzeigen
    15 Min.
  • PGT-A as an IVF Add-On: 25 Years of Controversy

    PGT-A as an IVF Add-On: 25 Years of Controversy
    Feb 5 2026
    This episode of the Progress Educational Trust (PET) podcast discusses longstanding controversies surrounding PGT-A (preimplantation genetic testing for aneuploidy) – an 'add-on' to IVF treatment whose use has been the subject of lively debate for the past 25 years.

    The discussion – which originally took place at the PET Annual Conference – is introduced by Sarah Norcross (Director of PET) and chaired by Dr Deborah Cohen (science writer and broadcaster), with contributions from:

    ⚫ Professor Karen Sermon (former Chair of the European Society of Human Reproduction and Embryology)

    ⚫ Dr Justin Chu (Medical Director of TFP Oxford Fertility)

    ⚫ James Lawford Davies (Partner at LDMH Partners)

    ⚫ Professor Manuela Perrotta (Leader of the Remaking Fertility initiative)

    PET is grateful to Remaking Fertility – an initiative based at Queen Mary University of London – for supporting this discussion.

    PET is also grateful to Jon Nicoll, who created the opening and closing music for its podcast.

    Register at https://www.progress.org.uk/events/upcoming-events/ for upcoming PET events.
    Mehr anzeigen Weniger anzeigen
    53 Min.
  • Expanded Carrier Screening: How Is It Used? What Are the Ethical Implications?

    Expanded Carrier Screening: How Is It Used? What Are the Ethical Implications?
    Jan 12 2026
    This episode of the Progress Educational Trust (PET) podcast discusses the use of expanded carrier screening to test prospective parents, and/or donors of sperm or eggs, for gene variants that could potentially lead to ill health in future children.

    The discussion – which originally took place at the PET Annual Conference – is chaired by Sarah Norcross (Director of PET), with contributions from:

    ⚫ Sara Levene (Consultant Genetic Counsellor and founder of Guided Genetics)

    ⚫ Professor Jackson Kirkman-Brown (Science Lead at the Birmingham Women's Fertility Centre)

    ⚫ Dr Heidi Mertes (Chair of Belgium's Federal Commission for Medical and Scientific Research on Embryos In Vitro)

    ⚫ Professor Cathy Herbrand (Principal Investigator at PRECAS)

    PET is grateful to Reproduction in the Age of Genomic Medicine: The Emergence, Commercialisation and Implications of PReconception Expanded CArrier Screening (PRECAS) – a project based at De Montfort University – for supporting this discussion.

    PET is also grateful to Jon Nicoll, who created the opening and closing music for its podcast.

    Register at https://www.progress.org.uk/events/upcoming-events/ for upcoming PET events.
    Mehr anzeigen Weniger anzeigen
    51 Min.
  • Rare Metabolic Diseases: Advancing Understanding, Improving Outcomes

    Rare Metabolic Diseases: Advancing Understanding, Improving Outcomes
    Dec 15 2025
    This episode of the Progress Educational Trust (PET) podcast discusses how to improve diagnosis, treatment and support for people affected by rare and inherited metabolic diseases.

    The discussion is chaired by Sarah Norcross (Director of PET), with contributions from:

    ⚫ Jonathan Gibson (Lead for Campaigns and Communications at the charity Metabolic Support UK)

    ⚫ Dr Srividya Sreekantam (Consultant in Paediatric Metabolic Medicine at Birmingham Women's and Children's Hospital NHS Trust)

    ⚫ Professor Evangeline Wassmer (Consultant in Paediatric Neurology at Birmingham Women's and Children's Hospital NHS Trust)

    ⚫ Professor Frances Platt (Professor of Biochemistry and Pharmacology at the University of Oxford)

    ⚫ Dr Julien Baruteau (Consultant in Paediatric Metabolic Medicine at Great Ormond Street Hospital for Children)

    All of us who live, breathe, eat and think are able to do so thanks to our metabolism – the set of chemical reactions via which substances are transformed inside our bodies, in order to sustain the functioning of our cells, tissues, organs and systems.

    Our metabolism enables us to obtain usable energy from the food that we consume, and then get rid of toxins that are left over. All of this is in turn dependent on our DNA, which tells our body how to manufacture certain molecules that make metabolism possible.

    A vast range of diseases can disrupt human metabolism, and thousands of these diseases can be inherited. Such inherited metabolic diseases are rare, in the sense that the precise cause and consequence of each disease occurs in a relatively small number of people. Collectively, however, inherited metabolic diseases are common.

    Many inherited metabolic diseases affect the central nervous system, but such diseases can potentially affect any of our bodily systems. The impact of such diseases – on children, adults and families – can be devastating.

    In this podcast, experts and advocates – including the pioneers of relevant medications, and of a gene therapy that involves genome editing – discuss how best to address challenges posed by rare and inherited metabolic diseases.

    Aspects discussed include diagnosis, treatment, support and broader public understanding.

    PET is grateful to Amicus Therapeutics for supporting this discussion.

    PET is also grateful to Jon Nicoll, who created the opening and closing music for its podcast.

    Register at https://www.progress.org.uk/events/upcoming-events/ for upcoming PET events.
    Mehr anzeigen Weniger anzeigen
    1 Std. und 32 Min.
  • Rare Disease Genomic Testing: How Do We Make Access Equitable and Timely?

    Rare Disease Genomic Testing: How Do We Make Access Equitable and Timely?
    Nov 24 2025
    This episode of the Progress Educational Trust (PET) podcast discusses how we might improve access to genetic and genomic testing, and related services, for people and families affected by rare disease.The discussion is chaired by Sarah Norcross (Director of PET), with contributions from:⚫ Dr Sarah Wynn (Chief Executive of Unique)⚫ Miranda Durkie (Head of Rare Disease at the North East and Yorkshire Genomic Laboratory Hub)⚫ Professor Emma Baple (Professor of Genomic Medicine at the University of Exeter)⚫ Dr Ellen Thomas (Chief Medical Officer at Genomics England)⚫ Adam Clatworthy (Co-Founder of CRELD1 Warriors)A disease that affects fewer than one in 2,000 people is generally considered 'rare'. However, such rare diseases are so common in the aggregate that they affect around one in 17 people at some point during their lives.Four-fifths of rare diseases are known to have a basis in people's genomes, either in inherited DNA or in de novo variants (differences in DNA that owe nothing to the previous generation). For this reason, genetic and genomic testing – ideally, whole genome sequence analysis – can be crucial in establishing diagnoses, and guiding treatment, for those who are thought to have a rare disease.In the UK, these facts have been emphasised in official documents and Government statements going back more than a decade. The Rare Diseases Strategy of 2013 committed 'all four countries of the UK' to 'making high quality diagnostic tests accessible'. The Rare Diseases Framework of 2021 identified 'helping patients get a final diagnosis faster' as the first of the UK's 'priorities for the next five years'. Those five years have almost elapsed, so where do we stand now?Several services and resources seek to make rare disease genomic testing more accessible and useful. These include NHS England's Genomic Medicine Service and National Genomic Test Directory, the Scottish Genomic Test Directories, and guidance such as the Association for Clinical Genomic Science's Best Practice Guidelines for Variant Classification in Rare Disease and the British Society for Genetic Medicine's guidance Managing Incidental Findings.However, challenges remain. Turnaround times for various parts of the genomic testing process – patient access to the relevant test, receipt of test results from an appropriate clinician and in an appropriate fashion, and follow-up and referral (where these are necessary) – are not always consistent, and can be overly long. This can then extend the 'diagnostic odyssey' that is too often experienced by rare disease patients and their families.A Working Group spanning various professions and organisations has published a Position Statement detailing these and other challenges, and making recommendations to address them. In this podcast, experts and advocates including authors of the Position Statement explore rare disease genomic testing, and discuss how to make it equitable and timely.PET is grateful to the NIHR Exeter Biomedical Research Centre for supporting this discussion.PET is also grateful to Jon Nicoll, who created the opening and closing music for its podcast.Register at https://www.progress.org.uk/events/upcoming-events/ for upcoming PET events.
    Mehr anzeigen Weniger anzeigen
    1 Std. und 35 Min.
  • Mitochondrial Donation: Does It Work? What Next?

    Mitochondrial Donation: Does It Work? What Next?
    Nov 3 2025
    This episode of the Progress Educational Trust (PET) podcast discusses the use of mitochondrial donation to avoid mitochondrial disease, with speakers including two of the pioneers whose work has resulted in the birth of eight UK babies with donated mitochondria.

    The discussion is chaired by Sarah Norcross (Director of PET), with contributions from:

    ⚫ Professor Mary Herbert (pioneer of mitochondrial donation, and lead author of the first study reporting embryological and reproductive aspects of the use of mitochondrial donation in treatment in the UK)

    ⚫ Professor Sir Doug Turnbull (pioneer of mitochondrial donation, and lead author of the first study reporting maternal and child health outcomes following the use of mitochondrial donation treatment in the UK)

    ⚫ Liz Curtis (established the Lily Foundation after losing her daughter to mitochondrial disease)

    ⚫ Professor Catherine Mills (Patient and Community Engagement Lead at the mitoHOPE pilot programme for mitochondrial donation in Australia)

    At least eight children with donated mitochondria have been born in the UK. All of the children are reported to have made normal developmental progress, and none of them show any sign of mitochondrial disease.

    The announcement of this news came 10 years after a successful campaign – by PET, the Lily Foundation and others – to change UK law, in order to permit the use of mitochondrial donation to avoid transmission of mitochondrial disease from mother to child.

    A similarly successful campaign in Australia has led to the introduction of Maeve's Law, named in honour of a young Australian girl who has mitochondrial disease. As in the UK, the Australian legislation permits the carefully regulated use of mitochondrial donation in treatment.

    In this podcast pioneers, experts and advocates at the forefront of mitochondrial donation explain what has been achieved to date, and discuss what should happen next.

    PET is grateful to the Adelphi Genetics Forum, the British Fertility Society, CooperSurgical and the Senior Infertility Nurse Group for supporting this discussion.

    PET is also grateful to Jon Nicoll, who created the opening and closing music for its podcast.

    Register at https://www.progress.org.uk/events/upcoming-events/ for upcoming PET events.
    Mehr anzeigen Weniger anzeigen
    1 Std. und 25 Min.