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Showing episodes and shows of
Genomics England
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Behind the Genes
Dr Natalie Banner, Paul Arvidson, Dr Rich Gorman and Professor Bobbie Farsides: How can we enable ethical and inclusive research to thrive?
In 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 practical realities of genomics. Our guests reflect on the power of involving patients and families as equal partners in research, and how this can lead to more inclusive, empathetic, and effective care. The conversation explores how ethics can be a tool for support, not just regulation, and...
2025-04-23
42 min
Behind the Genes
Vivienne Parry, Alice Tuff-Lacey, Dalia Kasperaviciute and Kerry Leeson Bevers: What can we learn from the Generation Study?
As 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 representation, and the ethical considerations surrounding the storage of genomic data. Our guests discuss how ongoing dialogue with communities is helping to refine recruitment strategies, improve equity in access, and enhance the diversity of genomic data. Our host Vivienne Parry, Head of...
2025-03-19
34 min
Behind the Genes
Dr Ana Lisa Tavares, Anne Lennox, Dr Meriel McEntagart, Dr Carlo Rinaldi: Can patient collaboration shape the future of therapies for rare conditions?
Rare 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 families, clinicians, researchers, and regulators is paving the way for faster diagnoses, equitable access to treatments, and innovative approaches like nucleic acid therapies and CRISPR gene editing. With insights from Myotubular Trust, we follow the journey of family-led patient communities and their impact on advancing gene therapy for...
2025-02-26
46 min
Behind the Genes
John Pullinger: What is the diagnostic odyssey?
In 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 other topics you’d like us to explain, feel free to contact us on info@genomicsengland.co.uk. The episodes mentioned in the conversation are linked below. Hope for those with no prima...
2025-01-22
04 min
Behind the Genes
Dr Rich Scott and Adam Clatworthy: Reflecting on 2024 - A year of change and discovery
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. 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 our podcast as Behind the Genes, welcomed Dr Rich Scott as our new Chief Executive Officer, and launched the Generation Study, in partnership with NHS England. The Participant Panel also saw changes, with Kirsty Irvine stepping into the role of Chair and Adam...
2024-12-18
48 min
CannMed Coffee Talk
Identifying and Managing Fusarium in Hemp with Nicole Gauthier, PhD
Dr. Nicole Gauthier is a Professor and Extension specialist at the University of Kentucky. Her program focuses on disease management of specialty crops including fruits, vegetables, and hemp. In her Extension role, she develops educational and outreach programs to help growers manage disease through identification, understanding of pathosystems, and integration of management strategies. Her research program focuses on a range of hemp diseases, including Fusarium head blight, as well as stand establishment and seedborne transmission. Dr. Gauthier’s resources can be found at plantpathology.ca.uky.edu/extension/publications, on Facebook and Twitter at @KYPlantDisease, and on YouTub...
2024-12-11
34 min
Behind the Genes
Adrianto Wirawan: What does 'no primary findings' mean?
In 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 other topics you’d like us to explain, feel free to contact us on info@genomicsengland.co.uk. You can download the transcript or read it below. Florence: What does ‘no primary findings’ mean? I'm joi...
2024-11-13
03 min
CannMed Coffee Talk
Analyzing Cannabis Gene Expression with Kevelin Barbosa-Xavier
Kevelin Barbosa-Xavier is a PhD student in Plant Biotechnology at Universidade Estadual do Norte Fluminense Darcy Ribeiro (UENF) where she conducts research under the supervision of Thiago Motta Venancio. She is a computational biologist, investigating the genes and gene networks involved in plant secondary metabolic pathways and fiber production, specifically in the Cannabis sativa species. Kevelin and her team recently published a study titled Cannabis Expression Atlas: a comprehensive resource for integrative analysis of Cannabis sativa L. gene expression, along with a free online tool to help researchers analyze genomic sequence data. We discussed: The team’s main objectives in creat...
2024-11-13
24 min
Behind the Genes
Mathilde Leblond: What do parents want to know about the Generation Study?
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 previous podcast episodes: How has design research shaped the Generation Study? Which conditions will we look for initially in the Generation Study? You can also find a series of short videos explaining some of the common terms you might en...
2024-11-06
11 min
Behind the Genes
Callum Morris: What happens in a clinical trial?
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 have any other topics you’d like us to explain, feel free to contact us on info@genomicsengland.co.uk. You can download the transcript or read it below. Florence: What happens in a clinical t...
2024-10-30
08 min
Behind the Genes
Nicole Chai: How does X-linked inheritance work?
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 you’d like us to explain, feel free to contact us on info@genomicsengland.co.uk. You can download the transcript or read it below. Florence: How does X-linked inheritance work? I'm joined by Nicole C...
2024-10-23
03 min
Behind the Genes
Arina Puzriakova: What is a polygenic disorder?
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 explain, feel free to contact us on info@genomicsengland.co.uk. You can download the transcript or read it below. Florence: What is a polygenic disorder? I'm joined by Arina Puzriakov...
2024-10-16
05 min
Behind the Genes
Öznur Özkurt, Mathilde Leblond, Rebecca Middleton and Sandra Igwe: How has design research shaped the Generation Study?
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 shaping the Generation Study. Parents, NHS staff, and the public have been involved from the start, providing input through public dialogues and usability testing to guide the development of the study. In this episode, our guests discuss the use of...
2024-10-09
24 min
Behind the Genes
Amanda Pichini: Which healthcare professionals are involved in my genomic healthcare journey?
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 YouTube channel. If you’ve got any questions, or have any other topics you’d like us to explain, feel free to contact us on info@genomicsengland.co.uk. You can download the transcript or read it below. Fl...
2024-10-02
05 min
Behind the Genes
Maili Raven-Adams, Niharika Batra, Trupti Patel and Naimah Callachand: How can we ensure equitable access to genomic medicine?
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 increase awareness of genomic research. They also highlight the importance of communicating consent in ways that respect cultural dynamics, such as family involvement in decision-making. Our host, Naimah Callachand is joined by Maili Raven-Adams, researcher in bioethics and policy at Nuffield Council on Bioethics, Niharika Batra...
2024-09-25
37 min
Behind the Genes
Natasha Gordon-Douglas, Oleander Agbetu, Jayson Kupoluyi and Marie Nugent: How can organisations support those living with sickle cell?
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 communities that have historically been overlooked. The discussion looks to the future, advocating for more personalised support, better treatment options and a stronger focus on the diverse experiences of those affected by sickle cell. Marie Nugent, Community Manager for the Genomics England Diverse Data Initiative co-hosts this...
2024-09-11
43 min
Blue Genes and Boots
SURGe into a Summer of Science
Howdy, and welcome to Blue Genes and Boots everyone! In this episode, Sarah spoke with four undergraduates from universities across the county who participated in our Summer Undergraduate Research in Genetics and Genomics (SURGe) program.The National Science Foundation SURGe Program is a 10-week intensive research experience under the mentorship of one of our Faculty of Genetics and Genomics members that includes a 3-credit hour Bioinformatics class. The credits are transferable to their home institution. Additionally, students have weekly meetings to explore research and career opportunities in genetics and genomics, discuss research ethics, how to apply to...
2024-08-28
39 min
Behind the Genes
Aman Ali, Anna Smith, Moestak Hussein and Naimah Callachand: How can we bridge the gap between diverse communities?
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 successful strategies for engaging these communities in healthcare research and decision-making, highlighting the importance of building trust with groups that have historically been underserved or mistreated. The episode also emphasises the need for culturally sensitive communication from healthcare professionals and how meaningful community engagement can foster collaboration and trust within genomic...
2024-08-28
36 min
Behind the Genes
Vivienne Parry, Professor Bill Newman, Anita Hanson and Professor Matt Brown: Can genomic testing prevent adverse drug reactions?
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 this episode, our guests discuss how genomic testing can identify patients who will respond to medications and those who may have adverse reactions. We hear more about Genomics England's collaboration with the Medicines and Healthcare products Regulatory Agency in the Yellow Card Biobank and our guests discuss the...
2024-08-14
36 min
Behind the Genes
Dr Rich Scott and Helen White: How can we work in partnership towards a new era of genomic medicine and research?
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, organisations and participants, emphasising the importance of keeping participant and patient benefit at the heart of research, whilst also addressing the ethical and safe storage of patient data. In this episode, our host, Helen White, who is the Participant Panel Vice-Chair for c...
2024-07-17
44 min
Behind the Genes
James Duboff: Genomics 101 - How do pharmaceutical companies use genomic data for drug discovery?
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 topics you’d like us to explain, feel free to contact us on info@genomicsengland.co.uk. You can download the transcript or read it below. Naimah: How do pharmaceutical companies use geno...
2024-05-22
13 min
Behind the Genes
Professor Sir Jonathan Montgomery, Dr Latha Chandramouli and Dr Natalie Banner: Why do we need to consider ethics in genomic healthcare and research?
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 Genomics England, speaks to Professor Sir Jonathan Montgomery and Dr Latha Chandramouli. Jonathan is the Chair of the Genomics England Ethics Advisory Committee, and a Professor of Health Care Law at University College London. Latha is a member of the Ethics Advisory Committee and the...
2024-05-15
42 min
Behind the Genes
Professor Matt Brown: Genomics 101 - What is personalised medicine?
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 channel. If you’ve got any questions, or have any other topics you’d like us to explain, feel free to contact us on info@genomicsengland.co.uk. You can download the transcript or read it below...
2024-05-08
04 min
Behind the Genes
Will Navaie: Genomics 101 - What is 'ethics'?
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 have any other topics you’d like us to explain, feel free to contact us on info@genomicsengland.co.uk. Want to find out more? Check out the blog 'Genomics 101: What is ethics...
2024-05-01
07 min
Behind the Genes
Marie Nugent: Genomics 101 - Why is diversity important in genomics research?
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’ve got any questions, or have any other topics you’d like us to explain, feel free to contact us on info@genomicsengland.co.uk. You can download the transcript or read it below. Nai...
2024-04-17
08 min
Behind the Genes
Ellen Thomas: Genomics 101 - What is genetic or genomic testing?
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 our YouTube channel. If you’ve got any questions, or have any other topics you’d like us to explain, feel free to contact us on info@genomicsengland.co.uk. You can download the tran...
2024-04-03
05 min
Behind the Genes
Shaun Pye, Sarah Crawford, Sarah Wynn and Naimah Callachand: Shining a light on rare conditions
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, speaks to Joey's parents, Shaun Pye and Sarah Crawford, and Sarah Wynn, CEO of Unique, as they discuss Joey's story and how her diagnosis enabled them to connect with other parents of children with similar conditions through the charity Unique. Shaun and...
2024-03-27
42 min
Behind the Genes
Clare Kennedy: Genomics 101 - What is the difference between DNA and RNA?
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 have any other topics you’d like us to explain, feel free to contact us on info@genomicsengland.co.uk. Want to find out more? Check out the blog 'Genomics 101: RNA vs DNA, what's the diff...
2024-03-20
09 min
Behind the Genes
Lisa Beaton, Dr Celine Lewis, Jana Gurasashvili and Louise Fish: Hope for those with "no primary findings"
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 this episode, our guests explore the impact of a "no primary finding" result on families, discussing the common experiences and expectations of parents and patients who undergo that genetic testing, and the role that hope plays in...
2024-03-14
44 min
Behind the Genes
Helen Brittain: Genomics 101 - What is 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 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 got any questions, or have any other topics you’d like us to explain, feel free to contact us on info@genomicsengland.co.uk. You can download the transcript or read it below. Naimah...
2024-03-06
09 min
Behind the Genes
Julia Vitarello, Rich Scott and Ana Lisa Tavares: Treating Mila - Lessons for those living with rare conditions
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 common. It is estimated that there are over 7,000 rare conditions. Around 80% of rare conditions have an identified genetic origin. In this episode of the G Word, our host Julia Vitarello, Founder and CEO of Mila’s Miracle Foundation, is joined by Rich Sc...
2024-02-28
45 min
Behind the Genes
David Bick: Genomics 101 - What is the Generation Study?
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 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 expl...
2024-02-21
06 min
Behind the Genes
Vivienne Parry, Louise Fish and Professor Matt Brown: Celebrating genomic breakthroughs - Insights from the Festival of Genomics
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 Matt Brown, Chief Scientific Officer at Genomics England, to discuss the event and emerging future trends in genomics. In this episode you'll also hear some exciting future advances in genomics research from some eminent speakers at the Festival:
2024-02-15
36 min
Behind the Genes
Ana Lisa Tavares: Genomics 101 - What is a rare condition?
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 have any other topics you’d like us to explain, feel free to contact us on info@genomicsengland.co.uk. Want to find out more? Check out the blog 'Genomics 101: What is a rare c...
2024-02-07
06 min
Behind the Genes
Dr Natalie Banner, Ismael Kherroubi García and Francisco Azuaje: Can Artificial Intelligence accelerate the impact of genomics?
On 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 future landscape of genomics and AI, as our experts discuss what to expect on the horizon. Our host Dr Natalie Banner, Director of Ethics at Genomics England, is joined by Ismael Kherroubi García, member of the Participant Panel and Ethics Advisory Committee at Genomics En...
2024-01-31
35 min
Behind the Genes
Dr Nirupa Murugaesu and Professor Sir Mark Caulfield: Providing tailored care for cancer patients through whole genome sequencing
In 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 to deliver more personalised and effective care. Our guests delve into the findings of a landmark national study, unravelling the significance of identifying inherited cancers for patients and their families. The episode explores not only the scientific advancements but also the real-world impact on individuals facing a...
2024-01-17
33 min
Behind the Genes
Dr Rich Scott: Reflecting on 2023 - A year of podcasts and a decade of progress
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 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 Callachand sits down with Dr Rich Scott, Interim Chief Executive Officer at Genomics England, to look back on the last decade of Genomics England. Tune in as we revisit memorable moments from the 2023 podcast episodes through key quotes, reflecting on the transformative journey of G...
2023-12-20
30 min
Behind the Genes
Dr Helen Hanson, Kelly Kohut, Rochelle Gold and Amanda Pichini: How are genetic tests transforming cancer prevention?
On 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 England, is joined by Dr Helen Hanson, Consultant in cancer genetics at the Peninsular Regional Genetic Service, Kelly Kohut, Lead Genetic Counsellor at the South West Thames Centre for Genomics, and Rochelle Gold, Patient Representative on the CanGene-Canvar research programme and co-founder of BRCA Journey. ...
2023-12-06
37 min
Behind the Genes
Rebecca Middleton, Professor Dame Sue Hill and Dr Rich Scott: Transforming the NHS with genomic testing
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 Medicine Service today. Host Rebecca Middleton, Vice Chair of The Participant Panel at Genomics England is joined by Professor Dame Sue Hill, Chief Scientific Officer and Senior Responsible Officer for Genomics in the NHS, and Dr Rich Scott, Interim Chief Executive...
2023-11-22
42 min
Behind the Genes
Amanda Pichini, Jonathan Roberts and Emma Walters: How can Genetic Counsellors improve care through research?
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, member of the Participant Panel at Genomics England, and Jonathan Roberts, NHS Genetic Counsellor and Clinical Content Developer at Genomics England. Emma shares her personal story and our guests delve into the impact of not having access to genetic counselling. They explore...
2023-11-09
51 min
Behind the Genes
Dr Jack Bartram: Can genomics improve our understanding of childhood cancers?
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 disease in acute lymphoblastic leukaemia. He is currently the clinical lead for haematological malignancy genomics in the NHSE North London genomic laboratory hub and has been responsible for the implementation of advanced genomics and whole genome sequencing into clinical practice at GOSH. ...
2023-09-27
28 min
Behind the Genes
Will Macken, Nicky Whiffin, Charlotte Durkin and Jamie Ellingford: Early Career Researchers navigating the field of genomics
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 Street Hospital. Will is also an ECR representative on the Genomics England Clinical Interpretation Partnership board. In this week's episode he's joined by: Nicky Whiffin, Associate Professor and Sir Henry Dale Fellow at the University of Oxford, and Quantitative Genomics...
2023-09-06
35 min
Behind the Genes
Jamie Ellingford: Genomics 101 - What is a bioinformatician?
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 about genomics on our YouTube channel. You can read the transcript here: What-is-a-bioinformatician.docx If you’ve got any questions, or have any other topics you’d like us to explain, feel free to contact us on i...
2023-08-21
09 min
Behind the Genes
Dr Prabhu Arumugam: Genomics 101 - What is multimodal data?
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 transcript here: What-is-multimodal-data.docx If you’ve got any questions, or have any other topics you’d like us to explain, feel free to contact us on info@genomicsengland.co.uk.
2023-08-07
10 min
Behind the Genes
Chris Wigley: The journey to the Human Genome Project and beyond with Dr Francis Collins
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 National Human Genome Research Institute and as a Senior Advisor to the National Institutes of Health (NIH) Director. Dr Collins is the longest serving Presidentially-appointed director of the NIH (2009-2021). Beyond his work on the Human Genome Project, Dr Collins has made significant c...
2023-07-26
46 min
Behind the Genes
Emma McCargow: Genomics 101 - What is long-read vs short-read sequencing?
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 YouTube channel. You can read the transcript here: Long-read-vs-short-read-sequencing.docx If you’ve got any questions, or have any other topics you’d like us to explain, feel free to contact us on info@genomicsengland.co.uk.
2023-07-24
04 min
Behind the Genes
Helen Webb, Lizzie Mordey, Kirsty Russell and Prabs Arumugam: How can advances in genome sequencing support patients through their sarcoma journey?
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 clinical trials coordinator, whose husband Stevie sadly passed away last year after receiving a sarcoma diagnosis. On average, 15 people in the UK are diagnosed with sarcoma cancer every day, but awareness of its signs and symptoms remains low. When Stevie first became...
2023-07-12
39 min
Behind the Genes
Dr Natalie Banner: Genomics 101 - What is the National Genomic Research Library?
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 channel. You can read the transcript here: What-is-the-National-Genomic-Research-Library.docx If you’ve got any questions, or have any other topics you’d like us to explain, feel free to contact us on info@gen...
2023-07-10
14 min
Behind the Genes
Dave McCormick, Jenny Taylor and Professor Matt Brown: Reaching the full potential of genomic research
In this episode of The G Word, Dave McCormick, member of the Participant Panel at Genomics England is joined by Jenny Taylor*, a valued member of our research community, and Professor Matt Brown, our Chief Scientific Officer, to discuss the last decade of genomic research at Genomics England. During this podcast our guests will consider: Is the National Genomic Research Library (NGRL) meeting its full potential? What is the future direction for research at Genomics England? How will Genomics England help research participants make connections with researchers who are interested in their gene or condition? ...
2023-06-21
35 min
Behind the Genes
John James and Suzannah Kinsella: Research priorities for sickle cell and genomics
For our World Sickle Cell Day episode of The G Word, Marie Nugent, Community Manager for the Diverse Data initiative at Genomics England, is joined by John James OBE, CEO of the Sickle Cell Society, and Suzannah Kinsella from the James Lind Alliance. They discuss the new priority setting partnership for sickle cell and genomics, including the longer-term plan to engage communities to create space for learning and trust building, and the importance of the patient-voice in setting research agendas for the use of genomics in sickle cell disease. By creating a 'top ten' for f...
2023-06-19
38 min
Behind the Genes
Greg Elgar: Genomics 101 - What is whole genome sequencing?
In this episode of our explainer podcasts, we’ve asked Greg Elgar, Director of Sequencing R&D here at Genomics England, to clarify in less than 10 minutes, what is whole genome sequencing. 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 transcript here: What-is-whole-genome-sequencing.docx If you’ve got any questions, or have any other topics you’d like us to explain, feel free to contact us on info@genomicsengland.co.uk.
2023-06-04
07 min
Behind the Genes
Shelley Simmonds, Louise Fish and Amanda Pichini: How can we support complex patient journeys?
In this episode of the G Word, Shelley Simmonds, member of the Participant Panel at Genomics England, speaks to Louise Fish, CEO of Genetic Alliance UK, and Amanda Pichini, clinical lead for genetic counselling for Genomics England, to discuss how the patient journey has changed over the last 10 years for those living with rare conditions. This year, we're celebrating our 10-year anniversary, and in this special episode our guests will delve into how we can continue to strengthen the relationships between Genomics England and charities such as Genetic Alliance, and we will explore the significance of these...
2023-05-31
45 min
Behind the Genes
Greg Elgar: Genomics 101 - What is a genome?
We're going back to basics today, and in this explainer podcast, we’ve asked Greg Elgar, Director of Sequencing R&D here at Genomics England, to clarify in less than 10 minutes, exactly what is a genome. 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 transcript here: What-is-a-genome.docx If you’ve got any questions, or have any other topics you’d like us to explain, feel free to contact us on info@genomicsengland.co.uk.
2023-05-08
06 min
Behind the Genes
Tiggy Johnstone-Burt, Vicky Cuthill and Sally Shillaker: Our Nurses, Our Future
In this weeks' episode of the G Word, Naimah Callachand, Head of Product Marketing at Genomics England, is joined by Tiggy Johnstone-Burt, a Macmillan Genomics Clinical Fellow and a clinical nurse specialist, Vicky Cuthill, a nurse consultant, and Sally Shillaker, a health visitor and practice development lead in genomics, to discuss how both nurses and health visitors play a vital role in the patient care pathway for those who have received a genetic diagnosis. For this years' International Nurses Day on 12 May, we're celebrating a brighter future of nursing. With the rapid advances in genomic medicine, both...
2023-05-03
44 min
Behind the Genes
Dr Rich Scott: Genomics 101 - Genetics vs genomics, what’s the difference?
People often use the terms genetics and genomics interchangeably, but is this right? In the first of a series of explainer podcasts, we’ve asked Dr Rich Scott, Chief Medical Officer, and Deputy CEO here at Genomics England, to clarify in less than 10 minutes, exactly what these two terms mean and when we should use them. 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 transcript here: https://files.genomicsengland.co.uk/documents/Podcast-transcripts/Genetics-vs-genomics-whats-the-difference.docx ...
2023-04-24
06 min
Blue Genes and Boots
Lions, Tigers, and Dr. Bill Murphy, Oh My!
Welcome to Blue Genes and Boots everyone!In this episode, Ashley and Emmarie talk to Dr. William Murphy. Dr. Murphy is a professor in the vet school at Texas A&M University, and his work focuses on comparative genomics, phylogeny and molecular evolution, with a specific focus in feline genetics. Dr. Murphy’s work has been very influential, from laying the groundwork for comparative genomics as a field to building tools and genomes that are useful to the scientific community on the whole.If yo...
2023-04-03
40 min
CannMed Coffee Talk
Field-Portable Testing Solutions for Cannabis with Russell Jessup, PhD
Dr. Russel Jessup is an Associate Professor at Texas A&M University. Russ started his career developing improved perennial grasses as biorefinery platforms for biofuels, turfgrasses, forage, ornamentals, phytoremediators, and renewable bio-based products. He has since transitioned into working on breeding industrial hemp, during which, he and his team identified a need for field-portable testing technologies that could help accelerate their programs. At CannMed 23, he will present on three of those technologies. Doing our conversation we discuss: How a field portable near-infrared spectrometer can be used to screen hemp plants to make sure they don’t exceed 0.3% THC How a cellp...
2023-03-15
33 min
CannMed Coffee Talk
Updating Cannabis Microbial Testing Regulations with Sherman Hom, PhD
Dr. Sherman Hom is the Director of Regulatory Affairs at Medicinal Genomics where he provides recommendations to regulatory officials that are tasked with drafting or modifying microbial testing regulations for cannabis, hemp, and psychedelic mushrooms to ensure safe products for patients and consumers. Before Medicinal Genomics, he was at the New Jersey Department of Health, where he led teams that started the Cannabis Testing Laboratory, the Cannabis Microbial Testing Unit, and created the “All States Medical Cannabis Program Required Testing Compendium”. At CannMed 23 Sherman will share the latest update to the “All States Cannabis Microbial Required Testing Compendium” to elucidate the pres...
2023-02-01
00 min
Behind the Genes
The Participant Panel: What are you doing to keep my data safe?
What is the impact of the participant data from the 100,000 Genomes Project? Rebecca Middleton and Jillian Hastings Ward explore these questions and discuss how the science has evolved at Genomics England with our CEO, Chris Wigley, Head of Translational Genomics, Dr Suzi Walker (a.k.a. the gene detective!) and Clinical Director and Director of Quality, Dr Ellen Thomas. We are taking you back to the Reanalysis Webinar for Participants, where Jillian, Chair of the Participant Panel, and Rebecca, Vice Chair of the Participant Panel, asked Chris, Suzi and Ellen questions that the participants had about Genomics...
2023-01-18
40 min
Behind the Genes
Chris Wigley: Goodbye 2022, hello 2023!
As we draw a close to 2022, Chris Wigley takes us through the best parts of the year in this short but sweet episode of The G Word. From our 10-year anniversary to GERS 2022 to our inspiring patient stories, Genomics England has achieved many milestones this year. We have enjoyed the privilege to speak to so many incredible people from across the world to talk about what we love most, genomics. Thank you to our wonderful listeners, see you in 2023! You can read our transcript here: https://files.genomicsengland.co.uk/documents/Pod...
2022-12-28
24 min
Behind the Genes
Vivienne Parry, Jillian Hastings Ward and Mark Caulfield: The last 10 years and the next...
This week we are celebrating the 10-year anniversary of the announcement of the 100,000 Genomes Project. To mark this ground-breaking project, our Head of Public Engagement, Vivienne Parry OBE, is joined by two guests who have played a critical role over the last 10 years: Professor Sir Mark Caulfield, who led the strategic oversight and delivery of the project, and Jillian Hastings Ward, Chair of the Participant Panel at Genomics England. Jillian and her family joined the project in 2015, in search of answers for her young son who is severely disabled. Tune in to hear Jillian and...
2022-12-07
29 min
Behind the Genes
Rob Annan: Conversations with the CEOs of genomics
Genome Canada is an independent, federally funded not-for-profit organisation and a national leader for Canada’s genomics ecosystem. Working in partnership, and across sectors, they invest in, and coordinate, genomics research, innovation, data and talent to generate solutions to today’s biggest challenges. CEO Rob Annan joins us in an inspiring and fascinating discussion. You can view our Transcript here: https://files.genomicsengland.co.uk/documents/Podcast-transcripts/Rob-Annan.docx "We do work in health, but we work beyond health." Today on The G Word, Genomics England's CEO Chris Wigley...
2022-11-23
40 min
Behind the Genes
Vivienne Parry and Professor Dame Sue Hill: The Genomics England Research Summit
Another brilliant session from the last genomics England Research Summit, where Chris Wigley spoke with Professor Dame Sue Hill and Vivienne Parry, about the state of genomics research and the pathway to clinical implementation. What does it take to scale an idea like whole genome sequencing diagnostics across an entire health service? You can find our transcript here: https://files.genomicsengland.co.uk/documents/Podcast-transcripts/Genomics-England-Research-Summit-2.docx "the NHS is both the producer and the consumer of innovation" On todays episode of The G Word, Chris Wigley is jo...
2022-11-16
20 min
Behind the Genes
Amanda Pichini: What role do genetic counsellors play in healthcare?
Genetic counsellors are a highly specialised group of healthcare professionals, who have the expertise to help patients and families understand complex information relating to genomics, as well as provide guidance and emotional support. Whether that's to understand their family history, make informed choices about genetic testing, or come to terms with a result or a new diagnosis. As genomics becomes more commonly used in health care, more and more people are likely to require genetic counselling and more healthcare professionals need to rely on their expertise. You can find our transcript here: https://files.genomicsengland.c...
2022-11-10
47 min
Behind the Genes
Jillian Hastings Ward and Baroness Nicola Blackwood: The Genomics England Research Summit
The Genomics England Research Summit is an exciting one-day event that explores the latest research and technology innovations from Genomics England, partners, and complementary fields. The summit covers all things genetics from Cancer Genomics, Emerging Technologies, Rare Diseases to Policies and Initiatives. You can view our transcript, here: https://files.genomicsengland.co.uk/documents/Podcast-transcripts/Genomics-England-Research-Summit.docx "...one of the most important things is to understand you have to build a sustainable system and really invest in building those relationships." Today on The G Word, we're very exci...
2022-11-02
14 min
Behind the Genes
Mai Shehab, Zaynah Asad and Aman Ali: The Muslim Census
Muslim Census surveyed 1,007 Muslims aged 18-65+ living in the UK to understand whether these pre-conceptions about Muslim’s attitudes towards health research and genomics more broadly, as well as health information, are based in fact. Our aim is for the findings to help explore how to engage with Muslims to increase Muslim representation in genetic research. Aman Ali, one of Genomics England's proud ambassadors is joined by two health researchers from Muslim Census, Mai Shehab and Zaynah Asad. They discuss the lack of representation in the Muslim community and how and why this must change in order to benefit the...
2022-10-14
33 min
CannMed Coffee Talk
Protecting Grows from Pests and Pathogens with Kyle R.L. Baker
Kyle R.L. Baker is the CSO and Co-Founder of EcoBuds and CleanTheory. He founded the companies based upon a deep understanding and experience in socio-technical design and econometric modeling and their application to disease mitigation. As a cannabis entrepreneur, Kyle focuses his attention on scientific verification methods and weighted decision-making to ensure the end-to-end delivery of clean and compliant cannabis to consumers, most notably medical patients. Clean cannabis is one of the biggest challenges facing growers. Microbes, viruses, and pests can devastate cannabis and hemp crops, greatly reducing product quality and yield. Growers must also meet state-mandated testing requirements for...
2022-08-31
00 min
Behind the Genes
Georgia Whitton: Changing course
"Getting your genetic information isn't just [of] your own, it belongs to your ancestry too." On today's episode of The G Word, Chris Wigley, our CEO is joined by Georgia Whitton, the Senior Genomic Data Scientist at the Wellcome Sanger Institute. She is also a broadcaster on YouTube. She hosts 'Genomics with Georgia', and is bringing new talent into the tech and science field through volunteering with Code First Girls and many other great activities. From aspiring actress to senior genomic data scientist, Georgia walks us through her genomic journey, starting with her A...
2022-08-17
28 min
Behind the Genes
Professor Sir Mark Caulfield: The predecessor’s view
"In cancer, it's been more challenging, because we had to get a community that hadn't really worked on the scale of data at all, to come to terms with that." On today's episode, Matt Brown, our Chief Scientific Officer at Genomics England is joined by professor Sir Mark Caulfield, one of the founding employees of Genomics England and predecessor to Matt Brown as Chief Scientific Officer. Today, they'll be discussing Mark's recollections of his time as Chief Scientific Officer of Genomics England, and his thoughts about pharmacogenomics' future.
2022-07-27
38 min
Behind the Genes
Professor Kate Tatton Brown: Knowledge is changing the world of healthcare as we know it
"We need to think about Genomics and we need to think about education because both are going to massively, massively change, and improve. I think we will be living in a very different space [in 30 years] than we are now...we are at the tip of the Iceberg." In this episode of The G Word, our CEO Chris Wigley is joined by Professor Kate Tatton Brown who is the Clinical Director and Head of the Genomics Education Programme at Health Education England. She's also a consultant in clinical genetics at St. George's University Hospital, and a Professor...
2022-06-23
43 min
Behind the Genes
Daphne Koller: Machine learning and multimodal data in drug discovery
“We are now in a world where there is this an abundance of data, which is only the beginning to what we're likely to be able to see in the coming years. At the same time, we have this incredible set of machine learning methods [...]. This seems to be a moment in time when those two tidal waves are about to come together in a way that offers us the opportunity to unlock some of the underlying secrets and complexities that underlie human health and human disease.” This week we are sharing for posterity the discussion that Park...
2022-06-08
21 min
Behind the Genes
Dr Genya Dana: The power of genomics
“What will be important is to engage with the patient community, it will be a very important process to complement the science that we are doing and to engage with those ultimate end users. That is the beauty of having these conversations with the people who are going to eventually end up adopting the technology.” Today's episode of The G Word is a little different. We are sharing a live recording of a recent discussion at the Public Policy Projects Global Genomics Conference between Chris Wigley, our CEO, and Dr Genya Dana, Global Head of Health Policy at A...
2022-06-01
40 min
Behind the Genes
Greg Elgar: How does clinical whole genome sequencing work in the real world?
"We're taking the native DNA molecule that's actually from the cell and we're reading the sequence of that molecule. That comes with some tremendous, enormous benefits, but it also comes with it some huge challenges." On today's episode of The G Word, we are joined by Parker Moss, our Chief Commercial Officer at Genomics England, and Greg Elgar, the Director of Sequencing Economic England. They discuss techniques such as preparation ahead of sequencing itself and the logistics to get blood and tissue from humans into the sequencing lab in Cambridge. They also delve into the...
2022-05-18
1h 09
Behind the Genes
Dalia Kasperaviciute, Alona Sosinsky, Francisco Azuaje and Maxine Mackintosh: Pick of the Genomics England Research Summit!
“I Remember when I got to the stage to introduce Edwin Cuppen, who was the first speaker on the cancer Genomics track, and I was just… it’s happening! It’s happening! We did it!” On today's episode of The G Word, we are joined by the chairs for scientific content at the recent Genomics England Research Summit: Dalia Kasperaviciute, Head of Genomic Data Sciences for Rare Disease; Alona Sosinsky, Scientific Director for Cancer; Francisco Azuaje, Director of Bioinformatics, and Maxine Mackintosh, Programme Lead for Diverse Data, all at Genomics England. They choose their picks of the Summit...
2022-05-11
35 min
Blue Genes and Boots
The Backbone of the Genetics IDP: Tamara and Ximena
Welcome to Blue Genes and Boots everyone!In this episode, Joe Romanowski and Lilia Sanchez host two women absolutely vital to the Genetics program- Tamara Ospina-Vega and Dr. Ximena Paez-Colasante. Without the two of them, the program could not be where it is today, and in this episode we chat with them about how they came to the Genetics program, what they’ve enjoyed most about their work, and advice for future applicants looking to apply to graduate school.Tamara Ospina-Vega has been with th...
2022-02-23
1h 04
CannMed Coffee Talk
Sequencing Psychoactive Mushrooms with Kevin McKernan
Kevin McKernan is Chief Scientific Officer at Medicinal Genomics. Kevin is back to talk about Psilocybin and the mushrooms that create it. Kevin and the team at MGC have published a highly contiguous reference genome for Psilocybe cubensis, which some listeners may know is the species of mushroom often referred to as the magic mushroom. Kevin and the team have also sequenced several different mushroom strains to try and better understand genes of interest and pathways responsible for Psilocybin. If you are new to Psilocybin and mushrooms, don’t worry we cover the basics as well as new findings in our...
2021-07-07
00 min
Cell Intel
Access Points
We talk with Olivia Koues, PhD, managing director of the Advanced Genomics Core at the University of Michigan, about the role of a 10x Genomics Certified Service Provider in supporting your experiments.
2021-07-02
33 min
CannMed Coffee Talk
Tissue Culture for Remediating Plants with Hope Jones, PhD
This episode’s guest is Hope Jones. She is the CEO of Superior Phenos, LLC, a hemp young plant production company in Arizona and CEO of Emergent Cannabis Sciences, an international cannabis and micropropagation consulting company with clients in Colombia, Australia, Germany and Canada. Dr. Jones has deep expertise in both hemp and cannabis often serving as an expert consultant on forming policy at the state and federal levels. NASA also tapped her micropropogation expertise to develop programs for growing plants on deep space missions. In our conversation, we talked a lot about tissue culture, as Dr. Jones will be lea...
2021-01-13
00 min
CannMed Coffee Talk
Understanding Cannabis Gene Networks with Jordan Zager, PhD
This episode’s guest is Jordan Zager, co-founder and CEO of Dewey Scientific. Jordan is an expert in cannabis genetics and natural product biosynthesis, having authored multiple research papers in the fields of trichome development and metabolism, mathematical modeling of biochemical pathways, and functional genomics. Jordan’s CannMed 2021 presentation is titled "Gene Networks Underlying Cannabinoid and Terpenoid Accumulation in Cannabis" and in it, he will explore the biochemical processes the cannabis plant uses to create cannabinoids and how each cultivar’s unique genetics plays a role. Topics we covered in the interview include: The problems cannabis and hemp growers are trying t...
2020-09-30
00 min
CannMed Coffee Talk
Assembling a Better Cannabis Reference Genome with Kevin McKernan
We have a great episode for you today featuring Medicinal Genomics Chief Scientific Officer Kevin McKernan. Kevin is a legend in the genomic sequencing space going back to his days working on the human genome project. He has applied his experience and knowledge to trying to better understand the cannabis genome, which as he mentions in the episode is one of the hardest genomes to figure out. So much so that many of the top names in genetic sequencing have collaborated to try and solve the problem. If you aren’t familiar with sequencing terminology you may not understand all of...
2020-04-01
41 min
Rare Genomics / RareShare Podcast Series: Ask the Expert & Patient Navigation
How to Get Answers From Rare Disease Experts: The Rare Genomics Task Force (RGTF)
Arvin Gouw, a scientist at Stanford University and a founding member of Rare Genomics Insitute, chats with us about how patients and caregivers can get answers to questions about rare diseases, clinical trials, symptoms, and more, from experts and researchers in the field with the Rare Genomics Task Force. Visit RareShare.org to find your rare disease community.
2019-08-27
17 min
Rare Genomics / RareShare Podcast Series: Ask the Expert & Patient Navigation
All About Genomic Sequencing for Rare Disease Patients: A Focus on iHope
Genomic sequencing is something many rare disease patients may need, but may not be able to access. The Rare Genomics institute runs a program called iHope to help children and their families afford genomic sequencing with the hope of finding a diagnosis, and a treatment. In this episode we chat with Romina Ortiz, a scientist and a co-founder of Rare Genomics to hear about the the potential costs of sequencing, the difference between exome sequencing and whole genome sequencing, and how, through iHope, Rare Genomics has provided $2.7 million worth of whole genome sequencing to patients in need. She also...
2019-04-19
29 min
Rare Genomics / RareShare Podcast Series: Ask the Expert & Patient Navigation
Rare Genomics/RareShare Podcast Series: Ask the Expert & Patient Navigation (Deepask1)
Rare Genomics Institute RareShare Ask the Expert:Podcast Series, Disease Specific Q&A Sessions, For feedbacks contact, Scientific Director, Rare Genomics Institute: Deepa Kushwaha, deepa.kushwaha@raregenomics.org (Music credit: www.bensound.com)
2018-05-14
24 min
Rare Genomics / RareShare Podcast Series: Ask the Expert & Patient Navigation
Rare Genomics/RareShare Podcast Series: Ask the Expert & Patient Navigation (Deepask1)
Rare Genomics Institute RareShare Ask the Expert:Podcast Series, Disease Specific Q&A Sessions, For feedbacks contact, Scientific Director, Rare Genomics Institute: Deepa Kushwaha, deepa.kushwaha@raregenomics.org (Music credit: www.bensound.com)
2018-03-06
26 min
Rare Genomics / RareShare Podcast Series: Ask the Expert & Patient Navigation
Rare Genomics/RareShare Podcast Series: Ask the Expert & Patient Navigation (Deepask1)
Rare Genomics Institute RareShare Ask the Expert:Podcast Series, Disease Specific Q&A Sessions, For feedbacks contact, Scientific Director, Rare Genomics Institute: Deepa Kushwaha, deepa.kushwaha@raregenomics.org (Music credit: www.bensound.com)
2017-11-20
54 min
Rare Genomics / RareShare Podcast Series: Ask the Expert & Patient Navigation
Rare Genomics/RareShare Podcast Series: Ask the Expert & Patient Navigation (Deepask1)
Rare Genomics Institute RareShare Ask the Expert:Podcast Series, Disease Specific Q&A Sessions, For feedbacks contact, Scientific Director, Rare Genomics Institute: Deepa Kushwaha, deepa.kushwaha@raregenomics.org (Music credit: www.bensound.com)
2017-06-15
00 min
Rare Genomics / RareShare Podcast Series: Ask the Expert & Patient Navigation
Rare Genomics/RareShare Podcast Series: Ask the Expert & Patient Navigation (Deepask1)
Rare Genomics Institute RareShare Ask the Expert:Podcast Series, Disease Specific Q&A Sessions, For feedbacks contact, Scientific Director, Rare Genomics Institute: Deepa Kushwaha, deepa.kushwaha@raregenomics.org (Music credit: www.bensound.com)
2016-11-18
48 min
Rare Genomics / RareShare Podcast Series: Ask the Expert & Patient Navigation
Rare Genomics/RareShare Podcast Series: Ask the Expert & Patient Navigation (Deepask1)
Rare Genomics Institute RareShare Ask the Expert:Podcast Series, Disease Specific Q&A Sessions, For feedbacks contact, Scientific Director, Rare Genomics Institute: Deepa Kushwaha, deepa.kushwaha@raregenomics.org (Music credit: www.bensound.com)
2016-09-12
22 min
Rare Genomics / RareShare Podcast Series: Ask the Expert & Patient Navigation
Rare Genomics/RareShare Podcast Series: Ask the Expert & Patient Navigation (Deepask1)
Rare Genomics Institute RareShare Ask the Expert:Podcast Series, Disease Specific Q&A Sessions, For feedbacks contact, Scientific Director, Rare Genomics Institute: Deepa Kushwaha, deepa.kushwaha@raregenomics.org (Music credit: www.bensound.com)
2016-05-29
1h 08
Rare Genomics / RareShare Podcast Series: Ask the Expert & Patient Navigation
Rare Genomics/RareShare Podcast Series: Ask the Expert & Patient Navigation (Deepask1)
Rare Genomics Institute RareShare Ask the Expert:Podcast Series, Disease Specific Q&A Sessions, For feedbacks contact, Scientific Director, Rare Genomics Institute: Deepa Kushwaha, deepa.kushwaha@raregenomics.org (Music credit: www.bensound.com)
2016-03-29
1h 02
Rare Genomics / RareShare Podcast Series: Ask the Expert & Patient Navigation
Rare Genomics/RareShare Podcast Series: Ask the Expert & Patient Navigation (Deepask1)
Rare Genomics Institute RareShare Ask the Expert:Podcast Series, Disease Specific Q&A Sessions, For feedbacks contact, Scientific Director, Rare Genomics Institute: Deepa Kushwaha, deepa.kushwaha@raregenomics.org (Music credit: www.bensound.com)
2015-11-24
1h 00
Rare Genomics / RareShare Podcast Series: Ask the Expert & Patient Navigation
Rare Genomics/RareShare Podcast Series: Ask the Expert & Patient Navigation (Deepask1)
Rare Genomics Institute RareShare Ask the Expert:Podcast Series, Disease Specific Q&A Sessions, For feedbacks contact, Scientific Director, Rare Genomics Institute: Deepa Kushwaha, deepa.kushwaha@raregenomics.org (Music credit: www.bensound.com)
2015-08-13
56 min
Rare Genomics / RareShare Podcast Series: Ask the Expert & Patient Navigation
Rare Genomics/RareShare Podcast Series: Ask the Expert & Patient Navigation (Deepask1)
Rare Genomics Institute RareShare Ask the Expert:Podcast Series, Disease Specific Q&A Sessions, For feedbacks contact, Scientific Director, Rare Genomics Institute: Deepa Kushwaha, deepa.kushwaha@raregenomics.org (Music credit: www.bensound.com)
2015-06-03
1h 13
Rare Genomics / RareShare Podcast Series: Ask the Expert & Patient Navigation
Rare Genomics/RareShare Podcast Series: Ask the Expert & Patient Navigation (Deepask1)
Rare Genomics Institute RareShare Ask the Expert:Podcast Series, Disease Specific Q&A Sessions, For feedbacks contact, Scientific Director, Rare Genomics Institute: Deepa Kushwaha, deepa.kushwaha@raregenomics.org (Music credit: www.bensound.com)
2015-04-17
00 min
Rare Genomics / RareShare Podcast Series: Ask the Expert & Patient Navigation
Rare Genomics/RareShare Podcast Series: Ask the Expert & Patient Navigation (Deepask1)
Rare Genomics Institute RareShare Ask the Expert:Podcast Series, Disease Specific Q&A Sessions, For feedbacks contact, Scientific Director, Rare Genomics Institute: Deepa Kushwaha, deepa.kushwaha@raregenomics.org (Music credit: www.bensound.com)
2015-04-13
57 min
Rare Genomics / RareShare Podcast Series: Ask the Expert & Patient Navigation
Rare Genomics/RareShare Podcast Series: Ask the Expert & Patient Navigation (Deepask1)
Rare Genomics Institute RareShare Ask the Expert:Podcast Series, Disease Specific Q&A Sessions, For feedbacks contact, Scientific Director, Rare Genomics Institute: Deepa Kushwaha, deepa.kushwaha@raregenomics.org (Music credit: www.bensound.com)
2015-04-13
57 min
Rare Genomics / RareShare Podcast Series: Ask the Expert & Patient Navigation
Rare Genomics/RareShare Podcast Series: Ask the Expert & Patient Navigation (Deepask1)
Rare Genomics Institute RareShare Ask the Expert:Podcast Series, Disease Specific Q&A Sessions, For feedbacks contact, Scientific Director, Rare Genomics Institute: Deepa Kushwaha, deepa.kushwaha@raregenomics.org (Music credit: www.bensound.com)
2015-04-13
48 min
Rare Genomics / RareShare Podcast Series: Ask the Expert & Patient Navigation
Rare Genomics/RareShare Podcast Series: Ask the Expert & Patient Navigation (Deepask1)
Rare Genomics Institute RareShare Ask the Expert:Podcast Series, Disease Specific Q&A Sessions, For feedbacks contact, Scientific Director, Rare Genomics Institute: Deepa Kushwaha, deepa.kushwaha@raregenomics.org (Music credit: www.bensound.com)
2015-04-13
21 min
Rare Genomics / RareShare Podcast Series: Ask the Expert & Patient Navigation
Rare Genomics/RareShare Podcast Series: Ask the Expert & Patient Navigation (Deepask1)
Rare Genomics Institute RareShare Ask the Expert:Podcast Series, Disease Specific Q&A Sessions, For feedbacks contact, Scientific Director, Rare Genomics Institute: Deepa Kushwaha, deepa.kushwaha@raregenomics.org (Music credit: www.bensound.com)
2015-02-25
58 min
Rare Genomics / RareShare Podcast Series: Ask the Expert & Patient Navigation
Rare Genomics/RareShare Podcast Series: Ask the Expert & Patient Navigation (Deepask1)
Rare Genomics Institute RareShare Ask the Expert:Podcast Series, Disease Specific Q&A Sessions, For feedbacks contact, Scientific Director, Rare Genomics Institute: Deepa Kushwaha, deepa.kushwaha@raregenomics.org (Music credit: www.bensound.com)
2015-02-13
47 min