Akathisia Stories, a co-production of MISSD and Studio C Chicago, is a podcast series that features interviews and news concerning the adverse drug reaction akathisia and medication-induced suicide.
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Davis's Drug Guide for Nurses, 12th Edition
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Brought to you by the D.R.E.S.S. Syndrome Foundation and hosted by Connie Stevens. An educational podcast on the severe adverse drug reaction known as D.R.E.S.S. Syndrome. Drug Reaction with Eosinophilia and Systemic Symptoms is often under-recognized and misdiagnosed. We talk with patients who have been touched by this horrific condition and experts who are working to prevent it, treat it, and create better awareness.
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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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An interview podcast bringing you the people and stories behind the science of how biological, physical, and chemical agents may cause adverse reactions to public, animal, and environmental health. This podcast is presented by the Society of Toxicology (SOT) and hosted by SOT members Anne Chappelle and David Faulkner. About Anne After graduating from the University of Delaware with a BS in biology in 1991, Anne Chappelle accidentally found her calling when she worked a gap year in an industr ...
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In 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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In 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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In 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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In 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
The 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?
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In 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
Digital 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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On this episode, we hear from Vincent Schmitt and Yoko Motohama, parents of Romain, a 16-year-old boy who tragically ended his life in 2021 after being prescribed a high dose of Paxil — known in France as Paroxetine — and suffering the effects of akathisia for several agonizing months. Yoko Motohama was born in Japan and earned a Ph.D. in computer …
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Natasha Gordon-Douglas, Oleander Agbetu, Jayson Kupoluyi and Marie Nugent: How can organisations support those living with sickle cell?
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For 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
In 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
Pharmacogenomics 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?
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In 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
Genomics 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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In 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
Ethical 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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In 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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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 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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In 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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In 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
42:26
Joey 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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In 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"
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There 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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In 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
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29 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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In 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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In 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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In 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?
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On this episode of the G Word, 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 …
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Dr Nirupa Murugaesu and Professor Sir Mark Caulfield: Providing tailored care for cancer patients through whole genome sequencing
33:39
In this instalment of The G Word, 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 empo…
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As 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 The G Word. 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 Callachan…
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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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On today's episode of the G Word, 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 a…
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Rebecca Middleton, Professor Dame Sue Hill and Dr Rich Scott: Transforming the NHS with genomic testing
42:35
This 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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On this episode we hear from two remarkable individuals who are at the forefront of a collaborative effort to raise awareness about the critical issues of mental health and polypharmacy challenges faced by our military personnel and veterans. Joining us are Wendy Dolin, the founder of MISSD, and Mike Tellerino, the director of K9s for Veterans. Tog…
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Amanda Pichini, Jonathan Roberts and Emma Walters: How can Genetic Counsellors improve care through research?
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Genetic 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?
36:22
Unfortunately, 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?
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The 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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In this episode of the G Word, Naimah Callachand, Head of Product Engagement and Growth at Genomics England, is joined by Dr Jack Bartram, consultant paediatric haematologist at Great Ormond Street Hospital (GOSH) for Children. Dr Bartram leads on molecular diagnostics within the haematology department at GOSH and has expertise in minimal residual …
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Will Macken, Nicky Whiffin, Charlotte Durkin and Jamie Ellingford: Early Career Researchers navigating the field of genomics
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This week on the G Word, our host Will Macken, is joined by a panel of Early Career Researcher (ECR) representatives to discuss how ECRs can navigate and position themselves within the ever-changing field of genomic research. Will is a clinician and researcher at the University College London Queen Square Institute of Neurology and Great Ormond Str…
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Sarah Justine Kerruish, Hélène Guillaume Pabis, Emilia Molimpakis and Lois Gulliford: How can we overcome bias in healthtech?
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In this episode of the G Word, Lois Gulliford, Legal Counsel at Genomics England, is joined by Sarah Justine Kerruish, Chief Strategy Officer at Kheiron Medical, Hélène Guillaume Pabis, Founder and CEO of Wild.AI and Emilia Molimpakis, CEO and Founder of thymia, to discuss how to tackle bias in healthtech. With growing concerns about the safety of …
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In this episode of our explainer podcasts, we’ve asked Jamie Ellingford, Lead Genome Data Scientist for Rare Disease at Genomics England, to explain what bioinformaticians do and how they're involved in the study of genomes, in less than 10 minutes. You can also find a series of short videos explaining some of the common terms you might encounter a…
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Dr Rich Scott and Professor Zornitza Stark: Genomic newborn screening for rare diseases – a review
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In this episode of the G Word, Naimah Callachand, Head of Product Marketing at Genomics England, is joined by Dr Rich Scott, Chief Medical Officer and Deputy CEO at Genomics England, and Professor Zornitza Stark, clinical geneticist at the Victorian Clinical Genetic Services in Melbourne, to discuss their recent paper published in the Nature Review…
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In this episode of our explainer podcasts, we’ve asked Dr Prabhu Arumugam, Director of Clinical Data and Imaging at Genomics England, to explain multimodal data 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. You can read the transcrip…
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As the foremost experts on the effects of chemicals, biological substances, and more, toxicologists are key contributors to health regulation and laws. Law Professor and lawyer Claudia Polsky, University of California Berkeley, discusses how science can influence environmental health law, as well as environmental justice, with co-hosts Anne Chappel…
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While pharmaceuticals provide positive benefits for patients, what about workers that may be exposed during production? Elizabeth M. Vancza, Merck & Co. Inc., reveals to co-hosts Anne Chappelle and David Faulkner the role of occupational toxicologists in understanding the exposure risks of pharmaceuticals, chemicals, and other substances that may a…
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In this episode of the G Word, Chris Wigley, CEO at Genomics England, is joined by renowned physician-geneticist, Dr Francis Collins, best known for his landmark discoveries of disease genes and his previous leadership of the international Human Genome Project. Dr Collins currently serves as a Senior Investigator in the intramural program of the Na…
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In this episode of our explainer podcasts, we’ve asked Emma McCargow, Programme Lead for the cancer programme at Genomics England, to explain in less than 10 minutes, the difference between long-read and short-read sequencing. You can also find a series of short videos explaining some of the common terms you might encounter about genomics on our Yo…
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Nanoparticles are manmade fibers, particulates, and other objects that are so small that when inhaled, they can escape the lungs and enter other body systems. Timothy Nurkiewicz, West Virginia University, studies the effects of these and other particulars. He discusses his inhalation and nanotoxicology research, as well as work with the National Gu…
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Blood samples and health records for 15,000 pregnancies provides a wealth of scientific data. Add samples and records from the resultant children and grandchildren, and you have an invaluable cohort with which you can study the long-term results of events that occur during pregnancy. Barbara Cohn with the Public Health Institute is the Director of …
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Helen Webb, Lizzie Mordey, Kirsty Russell and Prabs Arumugam: How can advances in genome sequencing support patients through their sarcoma journey?
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In this episode of the G Word, Helen Webb, Product Lead for the bioinformatics pipeline at Genomics England, is joined by Dr Prabs Arumugam, Director of Clinical Data and Imaging and Caldicott Guardian for Genomics England and Kirsty Russell, Product Manager for cancer long-read sequencing at Genomics England, as they speak to Lizzie Mordey, a clin…
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In this episode of our explainer podcasts, we’ve asked Dr Natalie Banner, Director of Ethics at Genomics England, to answer in less than 15 minutes: what is the National Genomic Research Library and what is it used for? 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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