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The Progress Educational Trust podcast

The Progress Educational Trust podcast

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 PET (the Progress Educational Trust) is an independent charity that improves choices for people affected by infertility and genetic conditions.

On this podcast, you can hear the latest PET discussions of scientific, ethical, legal and policy issues in fertility, genetics, genomics and embryo/stem cell research.

These discussions feature experts and advocates from around the world, as well as contributions from patients and the broader public.Copyright Progress Educational Trust Economie Management Management et direction
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    Épisodes
    • 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.

      This 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.
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      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.
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      1 h et 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 (Lead for Genetics and Genomics at the NIHR Exeter Biomedical Research Centre)⚫ Miranda Durkie (Chief Medical Officer at Genomics England)⚫ Professor Emma Baple (Lead for Genetics and Genomics at the NIHR Exeter Biomedical Research Centre)⚫ 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.
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      1 h et 35 min
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