At the Silver Screen is a new Irish podcast from by the marvellous Liam DeBrun and the stellar Scott Leeson, discussing films, reviews and more shenanigans!
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Scott Leeson Podcasts
We are Genomics England and our vision is to create a world where everyone benefits from genomic healthcare. Introducing our refreshed podcast identity: Behind the Genes, previously known as The G Word. Join us every fortnight, where we cover everything from the latest in cutting-edge research to real-life stories from those affected by rare conditions and cancer. With thoughtful conversations, we take you behind the science. You can also tune in to our Genomics 101 explainer series which br ...
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Dr Nour Elkhateeb: What is a clinical geneticist?
9:31
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9:31In this explainer episode, we’ve asked Dr Nour Elkhateeb, clinical fellow at Genomics England and clinical geneticist for the NHS, to explain the role of a clinical geneticist. The previous episode mentioned in the conversation is linked below. What is the diagnostic odyssey? You can also find a series of short videos explaining some of the common …
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Francisco Azuaje, Karim Beguir, Harry Farmer and Dr Rich Scott: How can cross-sector collaborations drive responsible use of AI for genomic innovation?
38:08
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38:08In this episode of Behind the Genes, we explore how Artificial Intelligence (AI) is being applied in genomics through cross-sector collaborations. Genomics England and InstaDeep are working together on AI and machine learning-related projects to accelerate cancer research and drive more personalised healthcare. Alongside these scientific advances, …
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Dr Harriet Etheredge, Gordon Bedford, Suzalee Blair-Gordon and Suzannah Kinsella: How do people feel about using genomic data to guide health across a lifetime?
30:35
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30:35In this episode of Behind the Genes, we explore the hopes, concerns and complex questions raised by the idea of a lifetime genome — a single genomic record used across a person’s life to guide healthcare decisions. Drawing on conversations from Genomics England’s Public Standing Group on the lifetime genome, our guests explore what it might mean fo…
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Dr Natalie Banner, Paul Arvidson, Dr Rich Gorman and Professor Bobbie Farsides: How can we enable ethical and inclusive research to thrive?
42:02
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42:02In this episode of Behind the Genes, we explore how ethical preparedness can offer a more compassionate and collaborative approach to genomic medicine. Drawing on insights from the EPPiGen Project, our guests discuss how creative storytelling methods, like poetry, have helped families and professionals navigate the complex emotional, ethical and pr…
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Vivienne Parry, Alice Tuff-Lacey, Dalia Kasperaviciute and Kerry Leeson Bevers: What can we learn from the Generation Study?
34:03
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34:03As of February 2025, the Generation Study has recruited over 3,000 participants. In this episode of Behind the Genes, we explore what we have learnt so far from running the study and how it continues to evolve in response to emerging challenges. The conversation delves into key lessons from early recruitment, the challenges of ensuring diverse repr…
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Dr Ana Lisa Tavares, Anne Lennox, Dr Meriel McEntagart, Dr Carlo Rinaldi: Can patient collaboration shape the future of therapies for rare conditions?
46:08
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46:08Rare condition research is evolving, and patient communities are driving the breakthrough. In this special Rare Disease Day episode, we explore the challenges and opportunities shaping the future of rare condition therapies. From groundbreaking gene therapy trials to the power of patient-driven research, our guests discuss how collaboration between…
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Dr Gavin Arno, Kate Arkell, Bhavini Makwana and Naimah Callachand: Can genomic research close the diagnostic gap in inherited sight loss?
29:47
29:47
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29:47In this episode, our guests explore the impact of genetic discoveries on inherited retinal dystrophies, in particular retinitis pigmentosa (RP). The discussion highlights a recent study that identified two non-coding genetic variants linked to RP, predominantly in individuals of South Asian and African ancestry. The conversation highlights how adva…
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Dr Natalie Banner, Dr Raghib Ali, Professor Naomi Allen, Dr Andrea Ramírez: How can we unlock the potential of large-scale health datasets?
37:53
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37:53In this episode, our guests discuss the potential of large-scale health datasets to transform research and improve patient outcomes and healthcare systems. Our guests also delve into the ethical, logistical, and technical challenges that come with these programmes. We hear how organisations such as UK Biobank, Our Future Health, and All of Us are c…
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John Pullinger: What is the diagnostic odyssey?
4:59
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4:59In this explainer episode, we’ve asked John Pullinger, Senior Bio Sample Operations Manager at Genomics England, to explain what it means to go on a diagnostic odyssey. You can also find a series of short videos explaining some of the common terms you might encounter about genomics on our YouTube channel. If you’ve got any questions, or have any ot…
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Jillian Hastings Ward, Dr Karen Low and Lindsay Randall: How can parental insights transform care for rare genetic conditions?
29:26
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29:26The Genetic Rare Syndromes Observational Cohort (GenROC) study aims to improve our understanding of how rare genetic conditions affect the way children grow, their physical health and their development. Through actively involving parents as experts in their child's condition, the study seeks to gather valuable insights and ensure that family experi…
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Dr Rich Scott and Adam Clatworthy: Reflecting on 2024 - A year of change and discovery
48:52
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48:52As 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. Throughout the year, guests have joined us to discuss groundbreaking research discoveries, important ethical considerations, and share their personal stories. It was also a year of transformation: we rebranded …
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Katrina Stone: What happens when I go for whole genome sequencing?
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4:46In this explainer episode, we’ve asked Katrina Stone, Clinical Genetics Doctor, and Clinical Fellow at Genomics England, to explain what happens when you go for whole genome sequencing for a rare condition. You can also find a series of short videos explaining some of the common terms you might encounter about genomics on our YouTube channel. If yo…
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Mel Dixon, Jo Balfour and Dr Rona Smith: How can we work with patients to drive research initiatives?
39:21
39:21
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39:21In this episode, we explore the importance of patient involvement in shaping rare condition research initiatives. Our guests discuss why it’s crucial to involve individuals with lived experiences, including patients and caregivers, in setting research agendas. In doing so, this approach ensures research can be more inclusive, efficient, and impactf…
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Meriel McEntagart: Are genetic conditions always inherited from parents?
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6:13In this explainer episode, we’ve asked Meriel McEntagart, Clinical Geneticist in the NHS and Clinical Lead for Rare Disease Technologies at Genomics England, to explain how genetic conditions can be inherited, and other ways they may arise. You can also find a series of short videos explaining some of the common terms you might encounter about geno…
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Helen White, Professor Ian Tomlinson, Claire Coughlan and Dr David Church: Can genetic discoveries revolutionise bowel cancer care?
34:21
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34:21In this episode, we explore findings from a groundbreaking study recently published in Nature which revealed potential targets for bowel cancer prevention and treatment. The study provides the most detailed understanding yet of bowel cancer’s genetic makeup. The research, which used data from the 100,000 Genomes Project identified over 250 genes th…
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Adrianto Wirawan: What does 'no primary findings' mean?
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3:57In this explainer episode, we’ve asked Adrianto Wirawan, Director of Bioinformatics Engineering at Genomics England, to explain what the term 'no primary findings' means. You can also find a series of short videos explaining some of the common terms you might encounter about genomics on our YouTube channel. If you’ve got any questions, or have any …
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Mathilde Leblond: What do parents want to know about the Generation Study?
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11:07In this explainer episode, we’ve asked Mathilde Leblond, Senior Design Researcher for the Generation Study at Genomics England, to answer some frequently asked questions that we received from parents who we engaged with for the design of the study. You can hear more information about Generation Study via the study's official website and in our prev…
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Callum Morris: What happens in a clinical trial?
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8:26In this explainer episode, we’ve asked Callum Morris, Pharmaceutical Research and Development Insights Manager at Genomics England, to explain what happens in a clinical trial. You can also find a series of short videos explaining some of the common terms you might encounter about genomics on our YouTube channel. If you’ve got any questions, or hav…
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Nicole Chai: How does X-linked inheritance work?
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3:25In this explainer episode, we’ve asked Nicole Chai, Research and Development Bioinformatician at Genomics England, to explain what X-linked inheritance is. You can also find a series of short videos explaining some of the common terms you might encounter about genomics on our YouTube channel. If you’ve got any questions, or have any other topics yo…
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Arina Puzriakova: What is a polygenic disorder?
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5:50In this explainer episode, we’ve asked Arina Puzriakova, Scientific Curator at Genomics England, to explain what a polygenic disorder is. You can also find a series of short videos explaining some of the common terms you might encounter about genomics on our YouTube channel. If you’ve got any questions, or have any other topics you’d like us to exp…
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Öznur Özkurt, Mathilde Leblond, Rebecca Middleton and Sandra Igwe: How has design research shaped the Generation Study?
24:02
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24:02The Generation Study is a research initiative aiming to explore the use of whole genome sequencing in newborns, to screen for more than 200 rare genetic conditions. This study will recruit 100,000 babies across England, and you can learn more about the Generation Study via the study's official website. Design research has played a vital role in sha…
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Amanda Pichini: Which healthcare professionals are involved in my genomic healthcare journey?
5:33
5:33
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5:33In this explainer episode, we’ve asked Amanda Pichini, Clinical Director at Genomics England and Genetic Counsellor, to explain which healthcare professionals you may come into contact with in your genomic healthcare journey. You can also find a series of short videos explaining some of the common terms you might encounter about genomics on our You…
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Maili Raven-Adams, Niharika Batra, Trupti Patel and Naimah Callachand: How can we ensure equitable access to genomic medicine?
37:11
37:11
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37:11Digital consent models, language barriers, and cultural differences are just a few factors that can exclude people from participating in genomic research. In this episode, our guests discuss these issues, and explore alternative methods such as in-person discussions and the use of trusted community figures to engage with their communities to increa…
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Natasha Gordon-Douglas, Oleander Agbetu, Jayson Kupoluyi and Marie Nugent: How can organisations support those living with sickle cell?
43:42
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43:42For Sickle Cell Awareness Month, our sickle cell Patient Voice Group discuss their lived experiences with sickle cell, shedding light on how organisations need to be considerate when engaging with patients. They emphasise the need for genuine engagement and transparency from researchers, while highlighting the importance of building trust within co…
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Aman Ali, Anna Smith, Moestak Hussein and Naimah Callachand: How can we bridge the gap between diverse communities?
36:45
36:45
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36:45In this episode of Behind the Genes, we explore the challenges diverse communities face in accessing genomic medicine. The discussion focuses on issues including language barriers, cultural differences, and socioeconomic disparities that hinder marginalised communities from accessing and benefitting from genomic medicine. Our guests delve into succ…
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Vivienne Parry, Professor Bill Newman, Anita Hanson and Professor Matt Brown: Can genomic testing prevent adverse drug reactions?
36:49
36:49
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36:49Pharmacogenomics plays a critical role in personalised medicine, as some adverse drug reactions are genetically determined. Adverse drugs reactions (ADRs) account for 6.5% of hospital admissions in the UK, and the application of pharmacogenomics to look at an individuals response to drugs can significantly enhance patient outcomes and safety. In th…
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Sarah Wynn, Emma Baple, Lindsay Pearse and Naimah Callachand: How has a groundbreaking genomic discovery impacted thousands worldwide?
38:08
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38:08In this episode, we delve into the impact of the new groundbreaking research uncovering the RNU4-2 genetic variant linked to neurodevelopmental conditions. The discovery, made possible through whole genome sequencing, highlights a genetic change in the RNU4-2 gene that affects about 1 in 200 undiagnosed children with neurodevelopmental conditions, …
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Dr Rich Scott and Helen White: How can we work in partnership towards a new era of genomic medicine and research?
44:56
44:56
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44:56Genomics has changed considerably over the past 10 years, and we are now exploring how to integrate it into routine healthcare. In this episode, our guests reflect on this evolution and discuss how the key learnings from the past 10 years can shape the genomics ecosystem of the future. They highlight the importance of partnership across teams, orga…
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James Duboff: Genomics 101 - How do pharmaceutical companies use genomic data for drug discovery?
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13:10In this explainer episode, we’ve asked James Duboff, Strategic Partnerships Director at Genomics England, to explain how genomic data can be used in drug discovery. You can also find a series of short videos explaining some of the common terms you might encounter about genomics on our YouTube channel. If you’ve got any questions, or have any other …
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Professor Sir Jonathan Montgomery, Dr Latha Chandramouli and Dr Natalie Banner: Why do we need to consider ethics in genomic healthcare and research?
42:41
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42:41Ethical considerations are essential in genomic medicine and clinical practice. In this episode, our guests dive into the details of ethical principles, highlighting how they can be brought into practice in the clinic, whilst considering the experiences and feelings of patients and participants. Our host, Dr Natalie Banner, Director of Ethics at Ge…
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Professor Matt Brown: Genomics 101 - What is personalised medicine?
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4:27In this explainer episode, we’ve asked Professor Matt Brown, Chief Scientific Officer at Genomics England, to explain what personalised medicine is and how it could change the way we treat genetic conditions and cancer. You can also find a series of short videos explaining some of the common terms you might encounter about genomics on our YouTube c…
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Will Navaie: Genomics 101 - What is 'ethics'?
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7:14In this explainer episode, we’ve asked Will Navaie, Head of Ethics Operations at Genomics England, to explain what ethics is and why it's important, in the context of genomics. You can also find a series of short videos explaining some of the common terms you might encounter about genomics on our YouTube channel. If you’ve got any questions, or hav…
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Marie Nugent: Genomics 101 - Why is diversity important in genomics research?
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8:37In this explainer episode, we’ve asked Marie Nugent, Community Manager for the Diverse Data Initiative at Genomics England, to explain what diversity is and why it's important, in the context of genomics. You can also find a series of short videos explaining some of the common terms you might encounter about genomics on our YouTube channel. If you’…
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Ellen Thomas: Genomics 101 - What is genetic or genomic testing?
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5:23In this explainer episode, we’ve asked Ellen Thomas, Interim Chief Medical Officer at Genomics England, to explain what genetic and genomic tests are, why someone might do a test, and how they are performed, in less than 10 minutes. You can also find a series of short videos explaining some of the common terms you might encounter about genomics on …
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Shaun Pye, Sarah Crawford, Sarah Wynn and Naimah Callachand: Shining a light on rare conditions
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42:26Joey was diagnosed with DYRK1A syndrome at the age of 13, through the 100,000 Genomes Project. DYRK1A syndrome is a rare chromosomal disorder, caused by changes in the DYRK1A gene which causes a degree of developmental delay or learning difficulty. In today's episode, Naimah Callachand, Head of Product Engagement and Growth at Genomics England, spe…
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Clare Kennedy: Genomics 101 - What is the difference between DNA and RNA?
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9:14In this explainer episode, we’ve asked Clare Kennedy, Clinical Bioinformatician at Genomics England, to explain what the difference is between DNA and RNA, in less than 10 minutes. You can also find a series of short videos explaining some of the common terms you might encounter about genomics on our YouTube channel. If you’ve got any questions, or…
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Lisa Beaton, Dr Celine Lewis, Jana Gurasashvili and Louise Fish: Hope for those with "no primary findings"
44:12
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44:12There are a range of outcomes from a genomic test. The results might provide a diagnosis, there may be a variant of uncertain significance, where a genetic variant is likely the cause of the condition, or there might be no particular gene found that is linked to the phenotype or clinical condition - also known as a "no primary finding" result. In t…
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Helen Brittain: Genomics 101 - What is a variant of uncertain significance?
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9:25In this explainer episode, we’ve asked Helen Brittain, Clinical Lead for Rare Disease Diagnostics at Genomics England, to explain what a variant of uncertain significance is, in less than 10 minutes. You can also find a series of short videos explaining some of the common terms you might encounter about genomics on our YouTube channel. If you’ve go…
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Julia Vitarello, Rich Scott and Ana Lisa Tavares: Treating Mila - Lessons for those living with rare conditions
45:44
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45:4429 February marks Rare Disease Day. This day is an opportunity for the rare community to come together to raise awareness of the common issues affecting those living with rare conditions. A rare condition is a condition that affects less than one in 2,000 in the population, and although rare conditions are individually rare they are collectively co…
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David Bick: Genomics 101 - What is the Generation Study?
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6:20In this explainer episode, we’ve asked David Bick, Principal Clinician for the Newborn Genomes Programme at Genomics England, to explain more about the Generation Study, in less than 10 minutes. For more information you can listen to our podcast episode where David discusses the conditions that we will initially look for in the study. You can also …
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Vivienne Parry, Louise Fish and Professor Matt Brown: Celebrating genomic breakthroughs - Insights from the Festival of Genomics
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36:27In January we saw experts from across the genomics ecosystem, including patients and those with an interest in genomics, gather at the Festival of Genomics - the UK's largest annual life sciences event. In this episode, our host, Vivienne Parry, Head of Engagement at Genomics England, speaks to Louise Fish, CEO of Genetic Alliance UK, and Professor…
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Ana Lisa Tavares: Genomics 101 - What is a rare condition?
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6:54In this explainer episode, we’ve asked Ana Lisa Tavares, Clinical Lead for rare disease research at Genomics England, to explain what a rare condition is, in less than 10 minutes. You can also find a series of short videos explaining some of the common terms you might encounter about genomics on our YouTube channel If you’ve got any questions, or h…
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Dr Natalie Banner, Ismael Kherroubi García and Francisco Azuaje: Can Artificial Intelligence accelerate the impact of genomics?
35:36
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35:36On this episode, we delve into the promising advances that artificial intelligence (AI) brings to the world of genomics, exploring its potential to revolutionise patient care. Our guests discuss public perspectives on AI in genomics and address the ethical complexities that arise in this rapidly evolving field. Gain valuable insights into the futur…
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Dr Nirupa Murugaesu and Professor Sir Mark Caulfield: Providing tailored care for cancer patients through whole genome sequencing
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33:39In this instalment, our guests engage in a compelling discussion centred around a recently published paper that supports the integration of whole genome sequencing into standard cancer care. Our guests shed light on the transformative potential of combining health data with whole genome data. Discover how this innovative approach empowers doctors t…
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Dr Rich Scott: Reflecting on 2023 - A year of podcasts and a decade of progress
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30:07As we approach the conclusion of 2023, we reflect on a year that not only signifies our 10-year anniversary but also marks another chapter of our podcast. Throughout the year, guests have joined us fortnightly to share their research, stories, and aspirations for the future of genomic healthcare. In this special end-of-year episode, Naimah Callacha…
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Dr Helen Hanson, Kelly Kohut, Rochelle Gold and Amanda Pichini: How are genetic tests transforming cancer prevention?
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37:17On today's episode, our guests will be discussing the CanGene-CanVar programme. Funded by Cancer Research UK, the 5-year programme aims to create an interface between NHS clinical care and research that will expand genetic testing access for those with inherited cancers. Our host Amanda Pichini, Clinical Lead for Genetic Counselling at Genomics Eng…
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Rebecca Middleton, Professor Dame Sue Hill and Dr Rich Scott: Transforming the NHS with genomic testing
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42:35This year as we celebrated our 10-year annivesary, the NHS celebrated a significant milestone of 75 years. In this episode we reflect on our journey over the last 10 years, including the impact of embedding genomic testing into the NHS, how it all started with the 100,000 Genomes Project, and how patients have influenced the shape of the Genomic Me…
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Amanda Pichini, Jonathan Roberts and Emma Walters: How can Genetic Counsellors improve care through research?
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51:02Genetic Counsellors play an important part in healthcare and research. This Genetic Counsellor Awareness Day we focus on the role genetic counsellors have in research, to help improve care for patients and families. On this episode of the G Word, Amanda Pichini, Clinical Lead for Genetic Counselling at Genomics England, is joined by Emma Walters, m…
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Dr Mie Rizig, Sir John Hardy, Candice King and Will Townley: Why is diversity in Parkinson’s research so important?
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36:22Unfortunately, please note you may be able to hear some background noise or static during some parts of the recording. In this episode of the G Word, Candice King, Patient and Public Engagement Manager and Will Townley, Cohorts Manager who both work at the Diverse Data initiative at Genomics England, are joined by Dr Mie Rizig and Sir John Hardy, w…
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Vivienne Parry and David Bick: Which conditions will we look for initially in the Generation Study?
25:24
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25:24The Newborn Genomes Programme is delivering the Generation Study in partnership with the NHS. The study will explore the possibilities of whole genome sequencing in newborn babies, including to identify a wider range of rare genetic conditions current NHS newborn blood spot test. To do this, we have undertaken significant engagement work to identif…
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