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From COVID to patient engagement to new tech, we're talking everything genomics.
In this episode, we celebrate 10 years of the Participant Panel and explore how genomic research is being guided by patient and participant...
In this explainer episode, we’ve asked Lisa Beaton, Panel Member and Parent Representative for SWAN UK, to tell us about the Participant Pan...
In this episode, we explore how individualised medicines are evolving from “n=1” treatments (a treatment effective for a single individual)...
In this explainer episode, we’ve asked Georgia Chan, Senior Data Wrangler at Genomics England, to explain what de-identified data is. You ca...
Blood cancers are the fifth most common group of cancers in the UK. But for a small number of people, the condition may have an inherited ge...
In this explainer episode, we’ve asked Réka Novotta, Research Ethics Operations Manager at Genomics England, to explain what informed consen...
In this special episode, recorded live at the 2025 Genomics England Research Summit, host Adam Clatworthy is joined by parents, clinicians a...
In this special end-of-year episode of Behind the Genes, host Sharon Jones is joined by Dr Rich Scott, Chief Executive Officer of Genomics E...
In this explainer episode, we’ve asked Dr Katie Snape, principal clinician at Genomics England, cancer geneticist, and specialist in inherit...
In this explainer episode, we’ve asked Amanda Pichini, clinical director at Genomics England and genetic counsellor, to explain what a genet...
In this explainer episode, we’ve asked Dr Emily Perry, research engagement manager at Genomics England, to explain what the Genomics England...
In this episode, we step inside the NHS to explore how the Generation Study is brought to life - from posters in waiting rooms to midwife tr...
In this explainer episode, we’ve asked Dr Nour Elkhateeb, clinical fellow at Genomics England and clinical geneticist for the NHS, to explai...
In this episode of Behind the Genes, we explore how Artificial Intelligence (AI) is being applied in genomics through cross-sector collabora...
In this episode of Behind the Genes, we explore the hopes, concerns and complex questions raised by the idea of a lifetime genome — a single...
In this episode of Behind the Genes, we explore how ethical preparedness can offer a more compassionate and collaborative approach to genomi...
As of February 2025, the Generation Study has recruited over 3,000 participants. In this episode of Behind the Genes, we explore what we hav...
Rare condition research is evolving, and patient communities are driving the breakthrough. In this special Rare Disease Day episode, we expl...
In this episode, our guests explore the impact of genetic discoveries on inherited retinal dystrophies, in particular retinitis pigmentosa (...
In this episode, our guests discuss the potential of large-scale health datasets to transform research and improve patient outcomes and heal...
In this explainer episode, we’ve asked John Pullinger, Senior Bio Sample Operations Manager at Genomics England, to explain what it means to...
The Genetic Rare Syndromes Observational Cohort (GenROC) study aims to improve our understanding of how rare genetic conditions affect the w...
As 2024 comes to a close, we take a moment to reflect on what has been a busy year at Genomics England and in the wider genomics community....
In this explainer episode, we’ve asked Katrina Stone, Clinical Genetics Doctor, and Clinical Fellow at Genomics England, to explain what hap...
In this episode, we explore the importance of patient involvement in shaping rare condition research initiatives. Our guests discuss why it’...
In this explainer episode, we’ve asked Meriel McEntagart, Clinical Geneticist in the NHS and Clinical Lead for Rare Disease Technologies at...
In this episode, we explore findings from a groundbreaking study recently published in Nature which revealed potential targets for bowel can...
In this explainer episode, we’ve asked Adrianto Wirawan, Director of Bioinformatics Engineering at Genomics England, to explain what the ter...
In this explainer episode, we’ve asked Mathilde Leblond, Senior Design Researcher for the Generation Study at Genomics England, to answer so...
In this explainer episode, we’ve asked Callum Morris, Pharmaceutical Research and Development Insights Manager at Genomics England, to expla...
In this explainer episode, we’ve asked Nicole Chai, Research and Development Bioinformatician at Genomics England, to explain what X-linked...
In this explainer episode, we’ve asked Arina Puzriakova, Scientific Curator at Genomics England, to explain what a polygenic disorder is. Yo...
The Generation Study is a research initiative aiming to explore the use of whole genome sequencing in newborns, to screen for more than 200...
In this explainer episode, we’ve asked Amanda Pichini, Clinical Director at Genomics England and Genetic Counsellor, to explain which health...
Digital consent models, language barriers, and cultural differences are just a few factors that can exclude people from participating in gen...
For Sickle Cell Awareness Month, our sickle cell Patient Voice Group discuss their lived experiences with sickle cell, shedding light on how...
In this episode of Behind the Genes, we explore the challenges diverse communities face in accessing genomic medicine. The discussion focuse...
Pharmacogenomics plays a critical role in personalised medicine, as some adverse drug reactions are genetically determined. Adverse drugs re...
In this episode, we delve into the impact of the new groundbreaking research uncovering the RNU4-2 genetic variant linked to neurodevelopmen...
Genomics has changed considerably over the past 10 years, and we are now exploring how to integrate it into routine healthcare. In this epis...
In this explainer episode, we’ve asked James Duboff, Strategic Partnerships Director at Genomics England, to explain how genomic data can be...
Ethical considerations are essential in genomic medicine and clinical practice. In this episode, our guests dive into the details of ethical...
In this explainer episode, we’ve asked Professor Matt Brown, Chief Scientific Officer at Genomics England, to explain what personalised medi...
In this explainer episode, we’ve asked Will Navaie, Head of Ethics Operations at Genomics England, to explain what ethics is and why it's im...
In this explainer episode, we’ve asked Marie Nugent, Community Manager for the Diverse Data Initiative at Genomics England, to explain what...
In this explainer episode, we’ve asked Ellen Thomas, Interim Chief Medical Officer at Genomics England, to explain what genetic and genomic...
Joey was diagnosed with DYRK1A syndrome at the age of 13, through the 100,000 Genomes Project. DYRK1A syndrome is a rare chromosomal disorde...
In this explainer episode, we’ve asked Clare Kennedy, Clinical Bioinformatician at Genomics England, to explain what the difference is betwe...
There are a range of outcomes from a genomic test. The results might provide a diagnosis, there may be a variant of uncertain significance ,...
In this explainer episode, we’ve asked Helen Brittain, Clinical Lead for Rare Disease Diagnostics at Genomics England, to explain what a var...