We’re talking about all things genomics, with guest speakers from across the genomics ecosystem.
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, who both work at University College London (UCL).
This podcast delves into a new paper published by Mie and John in the Lancet Neurology. The paper describes a novel African ancestry Parkinson's disease genetic risk factor. Our guests discuss the need for diversity in genetic research, the key findings from their study, and opportunities for future research in Parkinson's disease.
You can read the full transcript here: Diversity-in-Parkinsons-research.docx
“The number of people [in genomic research studies] from a white background, Northern Europeans, is about 95%. The number of people from an African background is only 0.2%. This is a significant disparity. When [clinicians] want to translate this into clinical practice, [they] think about: How will be able to test those people sufficiently enough?”
The study was conducted by scientists from the UCL Queen Square Institute of Neurology, London, the National Institutes of Health, and the University of Lagos, Nigeria as part of the Global Parkinson's Genomic Program (GP2). GP2 is supported by the Aligning Science Across Parkinson's (ASAP) initiative and implemented by The Michael J. Fox Foundation for Parkinson's Research (MJFF). The paper mainly included cohorts from:
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 identify the genetic conditions that should be looked for and fed back to families.
In this episode of the G Word, Vivienne Parry, Head of Public Engagement at Genomics England, speaks to David Bick, Principal Clinician for Newborn Genomes Programme at Genomics England. They discuss the process behind determining the provisional list of over 200 conditions caused by genetic changes in more than 500 different genes and how this list may change during the course of the study as new evidence emerges.
You can read the transcript here: Conditions-list-for-the-Generation-Study.docx
You can also find a short explainer video explaining the conditions list on our YouTube channel.
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.
Approximately 2,000 children in the UK receive a childhood cancer diagnosis each year. However, childhood cancers account for a relatively small percentage (less than 1%) of all cancer diagnoses in the UK. This rarity has posed challenges in fully understanding the associated risk factors and underlying causes. In this podcast Dr Bartram discusses how genomics has emerged as a pivotal tool in enhancing our understanding, offering opportunities for precise diagnosis, personalised treatment, and improved screening methods for childhood cancer.
You can read the transcript here: Childhood-cancer-awareness.docx
"If I look back on and if I reflect on the last three years, we can probably accurately say for at least a quarter of patients it's [genomics] given us additional information, which has either aided in diagnosis or like I'd say to help re-stratify a patient or potentially reveal a target for a therapy that we didn't know of before."
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:
"There can be people that just pick up basic skills to analyse the dataset that's in front of them that they've spent months in the wet lab trying to generate. Through to people who are proper software engineers and will be writing unit tests to test every single line of that code. I don't think it really matters where you sit on that continuum as long as it works for you, and it aligns with your future career progressions and what you want to be in the future, essentially."
You can read the transcript here: Early-Career-Researchers.docx
You can find the information on resources, events and support for ECRs mentioned on this podcast on our website.
We've got free-to-attend monthly research seminars, and Research environment training sessions for those who have joined the Genomics England research community - find out more and register for our next sessions here.
Email us if you have any questions: gecip-help@genomicengland.co.uk.
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 AI prompted by rapid technological advancements, a crucial question arises: how can we guarantee the equitable and unbiased utilisation of AI? Our guests delve into this issue and examine the importance of integrating diverse data sources.
You can read the transcript here: How-can-we-overcome-bias-in-healthtech.docx
"I think multimodal is the future, but we have a very special responsibility to be inclusive - to make sure that we are completely rigorous and robust in making sure that women and people from ethnic minorities are represented from the beginning and not as an afterthought."
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 info@genomicsengland.co.uk.
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's Genetics journal on 'Genomic newborn screening for rare diseases'.
Rich and Zornitza discuss and compare newborn screening practices on a global scale, and delve into the benefits and challenges of incorporating genomic sequencing into newborn screening.
Read the full review paper here.
You can read the transcript here: Genomic-newborn-screening-for-rare-diseases.docx
"We’re just also on the cusp of what feels like a really potential game-changing period in terms of the availability of treatments and interventions for rare conditions."
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.
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 contributions to advancing medical research and precision medicine. He has been a strong advocate for the responsible application of genomics in healthcare and has received numerous awards and honors for his contributions to science and medicine. In this episode, he speaks to Chris Wigley about his journey from eager Chemistry student to co-leader of the landmark Human Genome Project and his thoughts on what's next in the world of genomics.
You can read the transcript here: Chris-Wigley-interview-with-Francis-Collins.docx
"My dream, Chris, is that we come up with, in the next decade, a scalable approach to every genetic disease where you know the mutation."
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.
Amanda is a wife. A mother. A blogger. A Christian.
A charming, beautiful, bubbly, young woman who lives life to the fullest.
But Amanda is dying, with a secret she doesn’t want anyone to know.
She starts a blog detailing her cancer journey, and becomes an inspiration, touching and
captivating her local community as well as followers all over the world.
Until one day investigative producer Nancy gets an anonymous tip telling her to look at Amanda’s
blog, setting Nancy on an unimaginable road to uncover Amanda’s secret.
Award winning journalist Charlie Webster explores this unbelievable and bizarre, but
all-too-real tale, of a woman from San Jose, California whose secret ripped a family apart and
left a community in shock.
Scamanda is the true story of a woman whose own words held the key to her secret.
New episodes every Monday.
Follow Scamanda on Apple Podcasts, Spotify, or wherever you listen.
Amanda’s blog posts are read by actor Kendall Horn.