Podcasts about genomic

In this episode of Behind the Genes, we explore how Artificial Intelligence (AI) is being applied in genomics through cross-sector collaborations. Genomics England and InstaDeep are working together on AI and machine learning-related projects to accelerate cancer research and drive more personalised healthcare. Alongside these scientific advances, our guests also discuss the ethical, societal and policy challenges associated with the use of AI in genomics, including data privacy and genomic discrimination. Our guests ask what responsible deployment of AI in healthcare should look like and how the UK can lead by example. Our host, Francisco Azuaje, Director of Bioinformatics Genomics England is joined by Dr Rich Scott, Chief Executive Officer at Genomics England Karim Beguir - Chief Executive Officer at InstaDeep Harry Farmer – Senior Researcher at Ada Lovelace Institute If you enjoyed today's conversation, please like and share wherever you listen to your podcasts. And for more on AI in genomics, tune in to our earlier episode: Can Artificial Intelligence Accelerate the Impact of Genomics? "In terms of what AI's actually doing and what it's bringing, it's really just making possible things that we've been trying to do in genomics for some time, making these things easier and cheaper and in some cases viable. So really it's best to see it as an accelerant for genomic science; it doesn't present any brand-new ethical problems, instead what it's doing is taking some fairly old ethical challenges and making these things far more urgent."   You can download the transcript, or read it below.   Francisco: Welcome to Behind the Genes. [Music plays] Rich: The key is to deliver what we see at the heart of our mission which is bringing the potential of genomic healthcare to everyone.  We can only do that by working in partnership.  We bring our expertise and those unique capabilities.  It's about finding it in different ways, in different collaborations, that multiplier effect, and it's really exciting.  And I think the phase we're in at the moment in terms of the use of AI in genomics is we're still really early in that learning curve. [Music plays] Francisco: My name is Francisco Azuaje, and I am Director of Bioinformatics at Genomics England.  On today's episode I am joined by Karim Beguir, CEO of InstaDeep, a pioneering AI company, Harry Farmer, Senior Researcher at the Ada Lovelace Institute, and Rich Scott, CEO of Genomics England.  Today we will explore how Genomics England is collaborating with InstaDeep to harness the power of AI in genomic research.  We will also dive into the critical role of ethical considerations in the development and application of AI technologies for healthcare.  If you've enjoyed today's episode, please like, share on wherever you listen to your podcasts. [Music plays] Let's meet our guests. Karim: Hi Francisco, it's a pleasure to be here.  I am the Co-Founder and CEO of InstaDeep and the AI arm of BioNTech Group, and I'm also an AI Researcher. Harry: I'm Harry Farmer, I'm a Senior Researcher at the Ada Lovelace Institute, which is a think-tank that works on the ethical and the societal implications of AI, data and other emerging digital technologies, and it's a pleasure to be here. Rich: Hi, it's great to be here with such a great panel.  I'm Rich Scott, I'm the CEO of Genomics England. Francisco: Thank you all for joining us.  I am excited to explore this intersection of AI and genomics with all of you.  To our listeners, if you wish to hear more about AI in genomics, listen to our previous podcast episode, ‘Can Artificial Intelligence Accelerate the Impact of Genomics', which is linked in this podcast description. Let's set the stage with what is happening right now, Rich, there have been lots of exciting advances in AI and biomedical research but in genomics it's far more than just hype, can you walk us through some examples of how AI is actually impacting genomic healthcare research? Rich: Yeah, so, as you say, Francisco, it is a lot more than hype and it's really exciting.  I'd also say that we're just at the beginning of a real wave of change that's coming.  So while AI is already happening today and driving our thinking, really we're at the beginning of a process.  So when you think about how genomics could impact healthcare and people's health in general, what we're thinking about is genomics potentially playing a routine part in up to half of all healthcare encounters, we think, based on the sorts of differences it could make in different parts of our lives and our health journey.  There are so many different areas where AI, we expect, will help us on that journey.  So thinking about, for example, how we speed up the interpretation of genetic information through to its use and the simple presentation of how to use that in life, in routine healthcare, through to discovery of new biomarkers or classification that might help us identify the best treatment for people.  Where it's making a difference already today is actually all of those different points.  So, for example, there's some really exciting work we're doing jointly with Karim and team looking at how we might use classification of the DNA sequence of tumours to help identify what type of tumour - a tumour that we don't know where it's come from, so what we call a ‘cancer of unknown primary' - to help in that classification process.  We're also working with various different people who are interested in classification for treatment and trials, but there's also lots in between recognising patterns of genomic data together with other complex data.  So we've been doing a lot of work bringing image data together with genomic data and other health data so that you can begin to recognise patterns that we couldn't even dream of.  Doing that hand in hand with thinking about what patients and participants want and expect, how their data is used and how their information is held, bringing it all together and understanding how this works, the evidence that we need before we can decide that a particular approach is one that policymakers, people in healthcare want to use, is all part of the conversation. Francisco: Thank you, Rich, for speaking of cutting-edge AI applications and InstaDeep.  Karim, could you give us a glimpse into your work and particularly how your technologies are tackling some of the biggest challenges in genomic research? Karim: Absolutely, and I think what's exciting is we've heard from Rich and, you know, this is like the genomics expertise angle of things and I come from the AI world and so do most of the InstaDeep team.  And really what's fascinating is this intersection that is being extremely productive at the moment where technologies that have been developed for like multiple AI applications turn out to be extremely useful in understanding genomic sequences.  This is a little bit, our journey, Francisco.  Back in 2021/2022 we started working on the very intriguing question at the time of could we actually understand better genomic sequences with the emerging technologies of NLP, natural language processing.  And you have to put this in context, this was before even the word ‘generative AI' was coined, this was before ChatGPT, but we had sort of like an intuition that there was a lot of value in deploying this technology.  And so my team, sort of like a team of passionate experts in research and engineering of AI, we tackled this problem and started working on it and the result of this work was our nucleotide transformer model which we have open sourced today; it's one of the most downloaded, most popular models in genomics.  And what's interesting is we observed that simply using the technologies of what we call ‘self-supervised learning' or ‘unsupervised learning' could actually help us unlock a lot of patterns. As we know, most of genomics information is poorly understood and this is a way actually, with using the AI tool, to get some sense of the structure that's there. So how do we do this?  We basically mask a few aspects of the sequence and we ask the system to figure them out.  And so this is exactly how you teach a system to learn English, you know, you are teaching it to understand the language of genomics, and, incredibly, this approach when done at scale - and we train a lot on the NVIDIA Cambridge-1 supercomputer – allows you to have results and performances that are matching multiple specialised models.  So until then genomics and use of machine learning for genomics was for a particular task, I would have developed a specific model using mostly supervised learning, which is, I am showing you a few examples, and then channelled these examples and tried to match that, and so essentially you had one model per task.  What's really revolutionary in this new paradigm of AI is that you have a single model trained at very largescale, the AI starts to understand the patterns, and this means that very concretely we can work with our partners to uncover fascinating relationships that were previously poorly understood.  And so there is a wealth of potential that we are exploring together and it's a very exciting time. Francisco: What you're describing really highlights both the potential and the opportunities but also the responsibility we have with these powerful tools, its power, and this brings up some important ethical considerations.  And we have Harry…  Harry, we have talked about ethics frameworks in research for decades but AI seems to be rewriting the rulebook.  For your work at the Ada Lovelace Institute what makes AI fundamentally different from previous technologies when it comes to ethical considerations and how does this reshape our approach to ensuring these powerful tools benefit society as a whole? Harry: So I think when you are considering these sorts of ethical questions and these sorts of ethical challenges posed by AI and genomics it really depends on the sort of deployment that you're looking at.  From the conversation we've had so far, I think what's been hinted at is some of the diversity of applications that you might be using AI for within the context of genomics and healthcare.  So I think there's obviously big advances that have been alluded to in things like drug discovery, in things like cancer and cancer diagnosis, also these advances around gene editing, all of which have been on steroids, by artificial intelligence and particularly machine learning and deep learning. The area that we have been looking at at the Ada Lovelace Institute, and this was a project that we were doing in collaboration with the NCOB, the Nuffield Council on Bioethics, was looking at what we were calling ‘AI-powered genomic health prediction', which is very related to a technique called ‘polygenic scoring', for those who might be interested.  And that's looking at the emerging ability to make predictions about people's future health on the basis of their DNA, and it was thinking about what that ability might mean for UK society and also for how we are thinking about and delivering healthcare in the UK. Now, thinking about what the ethical challenges might be for that, I think you need to think about what specifically AI is bringing to that technique, so what it's bringing to genomic health prediction.  I think with some of the other deployments, the list of things that AI is bringing is quite similar, so it's helping with data collection and processing, so speeding up and automating data collection and preparation processes that otherwise are quite slow and very labour-intensive.  AI's also helping with the analysis of genomic and phenotype data, so helping us to understand the associations between different genomic variations and between observable traits, and this is something which without AI can often be prohibitively complex to do, and it's also sometimes suggested that on the deployment end AI can be a tool that can help us use genomic insight in healthcare more widely.  So one example of this might be using an AI chat bot to explain to a patient the results of a genomic test.  That's something that's only been mooted and I don't think there are current examples of that at the moment but that's one of the downstream applications of AI in the context of genomics. So in terms of what AI's actually doing and what it's bringing, it's really just making possible things that we've been trying to do in genomics for some time, making these things easier and cheaper and in some cases viable.  So really it's best to see it as an accelerant for genomic science; it doesn't present any brand-new ethical problems, instead what it's doing is taking some fairly old ethical challenges and making these things far more urgent.  So in terms of what those problems actually are, some of the big ones will be around privacy and surveillance, genomic health predictions produce a lot of intimate sensitive data about people and generating those insights requires the collection and the storage and the processing of a lot of very sensitive data as well.  We also have issues related to privacy around genomic discrimination, so this is the worry that people will be treated differently and in some cases unfairly on the basis of health predictions made about them.  And one of the really typical examples here is the worry that people might face higher insurance costs if they're found through genomic testing to be more likely to develop particular diseases over their life course. And then you also have a bunch of issues and questions which are more structural, so these are questions about how the availability of this kind of insight into people's future health might change or put pressure on existing ways of thinking about health and thinking about healthcare and some extreme cases thinking about the social contract.  So these are questions like does the viability of genomic health prediction lead to a radically more preventative approach to healthcare and what might this mean for what the state demands of you as a user of healthcare and as a recipient of that.  And there are also some important questions about the practicalities of delivering genomic medicine in the NHS, so questions like how does the NHS retain control and sovereignty over genomic analysis and data capacities, how do we test their efficacy at a public health level, and also – and this is something that we might talk about a bit later – what's the best deployment model for these capacities.  So that's some of the ethical and I think policy challenges that we need to be dealing with in this space. Francisco: Thank you, Harry.  And those principles you have outlined provide a solid foundation for discussing different types of applications. [Music plays] Let's talk about the InstaDeep and Genomics England partnership that is investigating the application of InstaDeep's powerful foundation model, the nucleotide transformer, and other cutting edge techniques to address several challenges in cancer research.  I have the privilege of working closely with this partnership and the potential here is immense.  Karim, could you break down for our listeners what you are working on together and what innovations you are aiming for? Karim: Absolutely, Francisco.  Actually, we are very excited by the collaboration with Genomics England.  Genomics England not only has one of the best data assets in the world when it comes to genomics, like a very well curated dataset but also a wealth of expertise on these topics, and on my side the InstaDeep team brings fundamental knowhow of machine learning models but also, as you mentioned, like powerful developed models already, such as our nucleotide transformer and others.  The culture of InstaDeep has always been to build AI that benefits everyone – this is literally in our mission – and so in particular, specifically on like current topics, really like the goal is to try to identify partners between genomic sequences of patients and the particular phenotypes or approaches.  And one of the key projects, which I mentioned that, is the one of cancer of unknown primary origin.  So when you have situations where you are not sure where a particular cancer emerged from it is critical to be able to extract this information to have the best potential care, and this is actually something where understanding of genomic sequences can bring this capability.  And so we've been getting some successful results in the collaboration but in many ways this is just the beginning.  What we are seeing is a great wealth of possibilities linking genotypes, so the information which is on the sequences themselves, the genomic sequences, and phenotypes, like the particular state of the patient, and the fact that the Genomics England team has those joint datasets creates incredible opportunities.  So we are looking at this really like identifying together what are the most useful ‘low-hanging fruits', if you want, in terms of like potentially improving a patient's care and moving forward from that. Francisco: And this collaborative approach you are describing raises questions about accelerating innovation in general.  When two organisations like Genomics England and InstaDeep come together it's like a multiplier effect in terms of expertise, data, and other resources.  Could you both share how this partnership is accelerating discoveries that might have taken years? Rich: Yeah, I mean, I think this…  Francisco, you frame it really nicely because this is what makes it so exciting to be in our position at Genomics England because what we do is we bring the particular understanding and expertise, digital infrastructure and custodianship of the National Genomic Research Library together, but actually the key is bringing the potential of genomic healthcare to everyone.  We can only do that by working in partnership, we bring our expertise and those capabilities.  And, as you say, it's about finding it in different ways, in different collaborations, that multiplier effect, and it's really exciting.  And I think the phase we're in at the moment in terms of the use of AI in genomics is we're still really early in that learning curve.  And so, as you've heard already through what Karim and I have said and also what Harry has said, there are multiple different aspects that we need to look at together, bringing different angles and understandings, and we see ourselves…  We often describe ourselves as a ‘data and evidence engine', that final word ‘evidence' is really important and it comes in the round.  So Harry really eloquently talked about a number of different considerations from an ethical perspective that need to be there.  What we need if we're going to move genomics forwards in terms of its potential to make a difference for people's lives, we need evidence around clinical efficacy of different approaches, that's absolutely a given and everyone always jumps at…  so it's almost first in line.  We need understanding about the health economics, you know, how much difference does it make for a particular investment, is it worth that investment.  Critically, it also is founded on, you know, how you might use this technology in different ways, how you use it in clinical pathways, you know, is it something that actually is addressing the particular questions which really hold back the delivery of better care.  Also in that evidence piece is an understanding of patients' and participants' expectations on how their data might be used, their expectations on privacy, the expectations that we have on understanding how equitable the use of a particular approach might be, or at least our understanding of how confident we are about the equity of the impact, and it's bringing together those different perspectives.  And that's one of the things that helps us construct the team at Genomics England so we have the expertise to help others access the data in the National Genomic Research Library for purposes our participants support but also help generate that sort of rounded package of evidence that will end up moving the dial.  So that it's not just about proving a cool widget, because that's great on its own, what drives Karim and the team is to make a difference in terms of outcomes, and that's exactly what drives us and our participants too. Francisco: And this and other partnership approaches brings up important questions about responsible innovation, and this naturally leads us to the next question for Harry, how do we harness these powerful tools when protecting our communities? Harry: Yeah, so if we are thinking about over-surveillance and the ways that vulnerable groups might be affected by the use of genomics and healthcare, I think we're talking about at least two different things here.  So one problems around the representativeness of data is it does lead to issues which you could classify as issues of differential accuracy.  So in the context of genomic prediction what you have is genomic predictive tools being more accurate for white Europeans and those with white European ancestry compared to other population groups.  And this is a product of the fact that genomic datasets and genomic predictions, the terminologies don't port well between different populations, which means if you train a genomic predictive tool on a bunch of people with white European ancestry the predictions you might make using that tool for other groups won't be as accurate as for the white Europeans.  And this can be actively harmful and dangerous for those in underrepresented groups because you are making predictions about people which just won't have the accuracy that you would expect in the context that you were deploying it. And I already mentioned this a bit in my previous answer, you have worries about discrimination, and there are a few different things here.  So with some historically marginalised groups and marginalised groups now there are longstanding historical sensitivities about being experimented on, about particular fears about eugenics and about being categorised in particular ways.  And it's worth saying here that there is obviously a racial dimension to this worry but I think there's also a class dimension, by which I mean you're far more vulnerable to being categorised unfavourably if you're poor or if you don't have a particular kind of status within society.  There is also within discrimination the idea that genomics might be used to explain away differences between different groups which in fact have a political or an economic basis.  So one example of this was during the COVID-19 pandemic, there were attempts by some commentators to explain away the fact that non-white communities had worse rates of mortality from COVID to try and attribute a genetic or a genomic basis to those differences rather than looking at some of the socioeconomic factors behind that.  So those are some worries as well. Now, when it comes to protecting particular groups I think there are a few things that can be done fairly straightforwardly.  So, one is work to improve the diversity and the representativeness of datasets.  Obviously, that's easier said than done, though it's a very clear thing that we can aspire towards and there is good work, I'm aware, that is going on in this space, some of which is being spearheaded by Genomics England, amongst other groups.  Another is just being very careful about how the results of population level genomic studies are communicated to avoid giving that impression of explaining away differences between different groups simply as things determined by genomics about which we can do nothing rather than things which have historical or socioeconomic bases.  But I also think the broader lesson is that some of these harms and these forms of discrimination are things that could theoretically affect anyone; they're not just limited to affecting marginalised groups. Genomic health predicting can produce bases for all of us to be discriminated against, things that have nothing to do with our race, our class, our sex or any other protected characteristic.  So I think there has to be thinking about how we establish or sure up more universal protections against genomic discrimination.  One thing that we can do here is simply stronger data protection law, and one of the things that we talk about in some of our reports is that how data protection law as it stands could do with being less ambiguous when it comes to how it treats genomic data and phenotype data produced as a result of genomic analysis. [Music plays] Francisco: Harry, you are in a unique position at the Ada Lovelace Institute where you bridge this gap between AI developers, researchers, policymakers and the public.  Your recent report on AI in genomics with the Nuffield Council on Bioethics offers an important blueprint for responsible AI innovation in general, so based on this cross-sector perspective, what guiding principles do we need to embrace as we navigate this intersection of AI and genomics? Harry: So I think in addition to the specific recommendations we set out in the final report of that work - which is called ‘Predicting the Future of Health' and which you can find on our website and also on the NCOB website – I think one of the biggest messages was the importance of finding a deployment model for genomic health prediction that respects that technology's strengths, what it can actually do, because there are limitations to this technology, and also which avoids circumstances in which the associated risks are difficult to deal with.  So another way of putting this is that we need a deployment model that, as well as making sure that we're ready to cope with the risks of genomic health prediction, the things like law, regulation and governance also proactively tries to design out some of those risks and finds ways of deploying this technology such that those risks don't present themselves in either as extreme a manner or don't present themselves in ways which makes them difficult to deal with. So one question that we posed in our research was whether some ways of integrating genomic health prediction may present more challenges regarding privacy, discrimination and then these other challenges that we'd identified around dependency and fragility and others. And having looked at some of the different broad approaches to using genomic health prediction within the NHS and within the UK's health system, we found that one presented by far fewest of the risks identified above, while still presenting some of the most certain benefits of genomic health prediction.  And this was using it really primarily as a targeted diagnostic tool - and this is a vision in which the NHS uses genomic health prediction quite sparingly in the first instance - and in situations to improve treatment and outcomes for those who are seriously ill or who have been identified as needing to take particular precautions regarding their health.  We think the more situational vision has a few advantages.  So one, is it allows patient and people using the health service to retain greater control over data.  We think that can also have a positive knock-on effect for worries about discrimination.  And here what you have is the absence of those pressures to share your data.  It means that it's easier for you as the user of the healthcare system to resist genomic discrimination simply by keeping your data private.  And there are some cases where that option… it shouldn't be the only option but where that option is really important. And then also one of the features of this vision is that the smaller scale of the use of genomic health prediction, presumed, can make outsourcing to third parties, which the NHS is probably likely to need to do in some cases.  It's also a vision, I think, that overall allows you to capture some of the more certain benefits to genomic health prediction which are about improvements to accuracy in predictions about people's future health at the margin, and therefore this is a deployment of this technology which is deploying it principally to people who will benefit and we know will benefit from marginal improvements in accuracy to predictions made about their future health rather than wanting to deploy those marginal improvements to the vast majority of the population where the benefit is less certain.  So this is a vision we hope sets out a way of getting some of the more certain benefits of this technology while minimising some of those broader more systemic risks. Francisco: Thank you, Harry.  Karim? Karim: Totally agree with Harry about the need for smart regulation in the field so that we make sure we have good uses of the technology but avoid the potential pitfalls.  I wanted to emphasise two points which I believe are important.  First, we are really in a fast-moving situation when we look at like AI progress.  We have seen incredible improvements over the last ten years and in particular what we call ‘artificial general intelligence', which is essentially systems that are matching human cognitive abilities, are now around the corner.  This might sound surprising but literally the last obstacles to reach AGI are being solved right now, and this means that in the next 12-24 months you will have systems that are incredibly capable.  So this emphasises the need for the type of measures and type of smart approach that Harry has described.  And I would say when you look at the intersection of AI and genomics this is a particularly important one and why it's the case, because so far in genomics our obstacle has not been data, it has been interpretation of a flood of data.  The progress that AI is making, like I just described now, means that very soon extraordinary capabilities will be available to improve patients' outcomes.  I want to inject a sense of how important is our conversation today, given what is happening, an exponential progress in AI, exponentially growing data in genomics and relatively exponential potential to build the technology for good.  But, like in other fields, we see that AI is an extremely powerful technology and we need to make sure it is used for good in fact and this is why the conversation that we have today is so important. Harry: Obviously I agree with the conclusion to all of this, is that we need to think very hard about the way that artificial intelligence and its deployment in healthcare and also just in many different walks of life is going to be affecting the way we think about public service delivery, affecting the way that we think about scientific development.  It's worth noting, though, that I think one of the biggest challenges from a policy perspective on artificial intelligence is being able to distinguish the wheat from the chaff.  There are obviously areas where AI has made huge and incredibly impressive progress over the past few years and where we reasonably expect that to continue over the next few years, but there are also areas where some of the stories being told about the capabilities of future systems probably won't be matched by the reality, but there is I think a really big and very live debate about exactly what we can reasonably expect from these technologies and therefore what the deployments of them are. Francisco: Thank you.  We are approaching the end of the episode and I'd like to conclude with a couple of questions.  Genomics England has built quite an ecosystem of industry partnerships, how do collaborations like the one with InstaDeep fit into your broader mission for the company? Rich: So linking this to the conversation that we've just been having, which is AI is making a real difference in terms of technologies that we can test, we can develop evidence on, and that is rightly creating excitement, I think our approach…  The expectation of our participants is that our role is to sit there and help people develop evidence and you can make judgments on policy based on those and that is what will drive adoption.  I think the thing that really excites me for the UK, most particularly in genomics, is our ability to be the place in the world where you can come with a new technology, whether it's genomic sequencing technology, whether it's a genomic AI approach to train that to develop evidence on its efficacy, and, if it's proven to be effective to be worth the bang for the buck to perform to the expectations that patients, the public, would have of it in terms of equity and so forth also to deploy it.  I think there is a real reason for excitement around that and it's a real opportunity that the government has highlighted and that we absolutely buy into that the UK can be the best place to do that for academics and for industry.  And our participants see real opportunity and are eager for that work to be done so that we have the evidence on which to decide what should be deployed and where.  We see opportunities in all sorts of different areas, so certainly in terms of drug discovery and all the way through to simplifying tasks which at the moment just limit the rate at which the existing uses of genomics in healthcare can happen. So I think there's opportunities across the whole length, if you like, the sort of end to end, and the breadth of opportunity, and industry, companies like InstaDeep and others that we work with, are really crucial to that.  And what we do is think about the digital infrastructure we need to, you know, have those teams able to interact with within the National Genomic Research Library carrying out their approved research projects.  Also what support they need, and that comes in different shapes and sizes, depending on the ask and also the company.  So sometimes sort of leaning in more, particularly at the start of programmes, to help people shape the question, working with our participants, thinking about the wider evidence that you might need, for example, those sort of things that Harry's touched on, but also thinking about what hands-on support companies need, because not every company is anywhere close to Karim and InstaDeep's expertise.  Sometimes this is also about supporting people to have some of those tools that they don't have or some of the knowhow that's very specific to areas of genomics, so it's absolutely crucial to it.  And I think that point of the UK being the place to come and develop that evidence in its full breadth so that policy decisions can be made not based on hype but on evidence in the round, on what will make a difference. Francisco: And, Karim, looking ahead, also in retrospect, what have been your key learnings about making this cross-sector partnership work? Karim: We live in an extraordinary time and I want to emphasise the potential of scientific discovery in the next two or three years.  AI is going to move from, let's say, digital style, you know, technologies like coding and maths towards more like science and biology.  In particular, genomics is going to be a fascinating area in terms of potential, and I agree with Rich and Harry, it's all in the end about proving on the ground the potential of those capabilities.  And at InstaDeep we are passionate about the tech – I think you might have felt that – but we're also passionate about the applications.  The best results come when you bring expertise from multiple domains; machine learning and AI experts will require the expertise of genomic experts, biologists, healthcare practitioners, to be able to translate the potential of those technologies in concrete outcomes.  And we've seen this on multiple successful projects we've done with Genomics England but really this suggests that we are going to have in the next 3-5 years way more progress than we had in the last five and really my wish is that collectively we seize this opportunity and we do it in a responsible and thoughtful manner. [Music plays] Francisco: We'll wrap up there.  Thank you to our guests, Karim Beguir, Harry Farmer and Rich Scott, for joining me today as we discuss the role of AI in genomics research.  If you wish to hear more like this, please subscribe to Behind the Genes on your favourite podcast app.  Thank you for listening.  I have been your host, Francisco Azuaje.  This podcast was edited by Bill Griffin at Ventoux Digital and produced by Naimah Callachand. [Music plays]    

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In this episode, Drs William J. Gradishar, Heather McArthur, and Joanne Mortimer address audience questions from a recent live event on the use of CDK4/6 inhibitors in patients with early and metastatic breast cancer, including:Genomic testing options for assessing risk of recurrenceAdjuvant treatment duration and holidays with CDK4/6 inhibitorsManaging renal toxicities, prophylaxis for DVT, and asymptomatic ILDCDK4/6 inhibitors with inavolisib and fulvestrantPresenters:William J. Gradishar, MD, FACP, FASCOBetsy Bramsen Professor of Breast OncologyRobert H. Lurie Comprehensive Cancer CenterNorthwestern UniversityChicago, IllinoisHeather McArthur, MD, MPH, FASCOProfessor, Department of Internal MedicineClinical Director, Breast Cancer ProgramKomen Distinguished Chair in Clinical Breast Cancer ResearchUT Southwestern Medical CenterDallas, TexasJoanne Mortimer, MD, FACP, FASCOVice Chair, Medical OncologyProfessor, Division of Medical Oncology & Experimental TherapeuticsAssociate Director for Education and TrainingBaum Family Professor of Women's CancersCity of Hope Comprehensive Cancer CenterDuarte, CaliforniaLink to full program:https://bit.ly/4osHLTm

In this episode of The Dairy Podcast Show, Dr. Hinayah Rojas, from Purdue University, shares valuable insights into the rapidly evolving field of genomics in dairy cattle. Dr. Rojas breaks down the challenges and opportunities presented by longitudinal traits like milk production, discussing how genomic tools are helping to boost sustainability across the industry. Additionally, Dr. Rojas offers advice on balancing motherhood with a demanding professional life. Listen now on all major platforms!"The lactation curve is complex, but genomics allows us to select animals not only for higher milk production but also for better lactation persistence."Meet the guest: Dr. Hinayah Rojas de Oliveira is an Assistant Professor of Genomics and Animal Breeding at Purdue University. She holds a PhD in Animal Sciences, focusing on Genetics and Animal Breeding, from the Federal University of Viçosa in Brazil. Dr. Rojas has completed postdoctoral work at the University of Guelph and Purdue University and previously worked as a Geneticist at Lactanet Canada. Her research aims to develop statistical models that maximize genetic progress while preserving diversity in livestock species.Liked this one? Don't stop now — Here's what we think you'll love!What you'll learn:(00:00) Highlight(01:30) Introduction(02:35) Dr. Rojas's journey(08:52) Genomics in dairy cattle(11:55) Longitudinal traits(14:30) Genomic & efficiency(17:11) Sustainability & genomics(28:35) Final questionsThe Dairy Podcast Show is trusted and supported by innovative companies like:* Adisseo* Lallemand* Priority IAC* Evonik- ICC- AHV- Protekta- Natural Biologics- SmaXtec- Berg + Schmidt- dsm-firmenich

******Support the channel******Patreon: https://www.patreon.com/thedissenterPayPal: paypal.me/thedissenterPayPal Subscription 1 Dollar: https://tinyurl.com/yb3acuuyPayPal Subscription 3 Dollars: https://tinyurl.com/ybn6bg9lPayPal Subscription 5 Dollars: https://tinyurl.com/ycmr9gpzPayPal Subscription 10 Dollars: https://tinyurl.com/y9r3fc9mPayPal Subscription 20 Dollars: https://tinyurl.com/y95uvkao ******Follow me on******Website: https://www.thedissenter.net/The Dissenter Goodreads list: https://shorturl.at/7BMoBFacebook: https://www.facebook.com/thedissenteryt/Twitter: https://x.com/TheDissenterYT This show is sponsored by Enlites, Learning & Development done differently. Check the website here: http://enlites.com/ Dr. Kevin Mitchell is Associate Professor of Genetics and Neuroscience at Trinity College Dublin. He is interested in the development of connectivity in the brain, specifically in how this process is controlled by genes and how mutations in such genes affect the connectivity of neuronal circuits, influence behavior and perception and contribute to disease. His latest book is Free Agents: How Evolution Gave Us Free Will. In this episode, we start by talking about free will. We discuss free will at the molecular level and the different levels of analysis. We discuss top-down causation and process philosophy. We talk about decision-making, why certain possibilities spring to mind and not others, and why it can pay off to behave randomly sometimes. We also discuss whether AI could have free will. We then talk about Dr. Mitchell's debates with Dr. Robert Sapolsky, and how we should reframe the free will debate within science. We discuss the genomic code, and how the genome instantiates a generative model of the organism. Finally, we talk about the science and ethics of human embryo editing, and the trouble with eugenics.--A HUGE THANK YOU TO MY PATRONS/SUPPORTERS: PER HELGE LARSEN, JERRY MULLER, BERNARDO SEIXAS, ADAM KESSEL, MATTHEW WHITINGBIRD, ARNAUD WOLFF, TIM HOLLOSY, HENRIK AHLENIUS, FILIP FORS CONNOLLY, ROBERT WINDHAGER, RUI INACIO, ZOOP, MARCO NEVES, COLIN HOLBROOK, PHIL KAVANAGH, SAMUEL ANDREEFF, FRANCIS FORDE, TIAGO NUNES, FERGAL CUSSEN, HAL HERZOG, NUNO MACHADO, JONATHAN LEIBRANT, JOÃO LINHARES, STANTON T, SAMUEL CORREA, ERIK HAINES, MARK SMITH, JOÃO EIRA, TOM HUMMEL, SARDUS FRANCE, DAVID SLOAN WILSON, YACILA DEZA-ARAUJO, ROMAIN ROCH, DIEGO LONDOÑO CORREA, YANICK PUNTER, CHARLOTTE BLEASE, NICOLE BARBARO, ADAM HUNT, PAWEL OSTASZEWSKI, NELLEKE BAK, GUY MADISON, GARY G HELLMANN, SAIMA AFZAL, ADRIAN JAEGGI, PAULO TOLENTINO, JOÃO BARBOSA, JULIAN PRICE, HEDIN BRØNNER, DOUGLAS FRY, FRANCA BORTOLOTTI, GABRIEL PONS CORTÈS, URSULA LITZCKE, SCOTT, ZACHARY FISH, TIM DUFFY, SUNNY SMITH, JON WISMAN, WILLIAM BUCKNER, PAUL-GEORGE ARNAUD, LUKE GLOWACKI, GEORGIOS THEOPHANOUS, CHRIS WILLIAMSON, PETER WOLOSZYN, DAVID WILLIAMS, DIOGO COSTA, ALEX CHAU, AMAURI MARTÍNEZ, CORALIE CHEVALLIER, BANGALORE ATHEISTS, LARRY D. LEE JR., OLD HERRINGBONE, MICHAEL BAILEY, DAN SPERBER, ROBERT GRESSIS, JEFF MCMAHAN, JAKE ZUEHL, BARNABAS RADICS, MARK CAMPBELL, TOMAS DAUBNER, LUKE NISSEN, KIMBERLY JOHNSON, JESSICA NOWICKI, LINDA BRANDIN, VALENTIN STEINMANN, ALEXANDER HUBBARD, BR, JONAS HERTNER, URSULA GOODENOUGH, DAVID PINSOF, SEAN NELSON, MIKE LAVIGNE, JOS KNECHT, LUCY, MANVIR SINGH, PETRA WEIMANN, CAROLA FEEST, MAURO JÚNIOR, 航 豊川, TONY BARRETT, NIKOLAI VISHNEVSKY, STEVEN GANGESTAD, TED FARRIS, ROBINROSWELL, KEITH RICHARDSON, HUGO B., JAMES, JORDAN MANSFIELD, AND CHARLOTTE ALLEN!A SPECIAL THANKS TO MY PRODUCERS, YZAR WEHBE, JIM FRANK, ŁUKASZ STAFINIAK, TOM VANEGDOM, BERNARD HUGUENEY, CURTIS DIXON, BENEDIKT MUELLER, THOMAS TRUMBLE, KATHRINE AND PATRICK TOBIN, JONCARLO MONTENEGRO, NICK GOLDEN, CHRISTINE GLASS, IGOR NIKIFOROVSKI, AND PER KRAULIS!AND TO MY EXECUTIVE PRODUCERS, MATTHEW LAVENDER, SERGIU CODREANU, ROSEY, AND GREGORY HASTINGS!

How to unlock the power of precision medicine to make sure your patients get the best, personalized treatment plan. Credit available for this activity expires: 7/29/26 Earn Credit / Learning Objectives & Disclosures: https://www.medscape.org/viewarticle/implementing-comprehensive-genomic-profiling-your-oncology-2025a1000jnt?ecd=bdc_podcast_libsyn_mscpedu

Think butterfly genomics is a simple topic? Think again, but this time think alongside Zac MacDonald and Julian Dupuis. Not only are they answering some of the most interesting contemporary conservation questions, but they're doing so using a very curious butterfly as their model organism. “One of the difficult things with studying these kinds of butterflies….is we don't really understand fitness or adaptive value as well as we do in cougars or in foxes or in dogs or in other vertebrates that we've studied a lot more.” Julian says. “We don't really have these characteristic signals of, what does inbreeding depression look like? We just don't have that kind of information in butterflies.”Listen in to learn about cutting edge genomics from certified self-described “crazy butterfly people” and expand your idea of what is possible in conservation.Zac and Julian's paper “Genomic and ecological divergence support recognition of a new species of endangered Satyrium butterfly (Lepidoptera, Lycaenidae)” is in volume 1234 of Zookeys. It can be found here: https://doi.org/10.3897/zookeys.1234.143893A transcript of this episode can be found here: Zac Macdonald and Julian Dupuis - TranscriptNew Species: Satyrium curiosolusEpisode image credit: MacDonald et. al (2025)Follow Zac on instagram: @wild_about_the_wild_thingsAnother paper by Zac and Julian on the future of butterfly conservation: https://onlinelibrary.wiley.com/doi/10.1111/mec.17657Be sure to follow New Species on Bluesky (@newspeciespodcast.bsky.social) and Instagram (@NewSpeciesPodcast) and like the podcast page on Facebook (www.facebook.com/NewSpeciesPodcast).Music in this podcast is "No More (Instrumental)," by HaTom (https://fanlink.to/HaTom)If you have questions or feedback about this podcast, please e-mail us at NewSpeciesPodcast@gmail.comIf you would like to support this podcast and enjoy bonus episodes, please consider doing so at https://www.patreon.com/NewSpeciesPod

Cheryl Reeves, Senior Editor at The Lancet Oncology, is joined by Dr Jinming Li, from the Department of Colorectal Surgery, Fudan University Shanghai Cancer Centre, Shanghai, China to discuss his international, multicohort, observational study on patterns in genomic mutations among patients with early-onset colorectal cancer.Read the full article:https://www.thelancet.com/journals/lanonc/article/PIIS1470-2045(25)00239-6?dgcid=buzzsprout_icw_podcast_July_25_lanoncTell us what you thought about this episodeContinue this conversation on social!Follow us today at...https://thelancet.bsky.social/https://instagram.com/thelancetgrouphttps://facebook.com/thelancetmedicaljournalhttps://linkedIn.com/company/the-lancethttps://youtube.com/thelancettv

After Chris Walkland's dairy market update this week, Ben Eagle is joined by Kevin Ziemba, Global Applied Genetic Consulting Manager at STGenetics (parent company of Cogent Breeding) and Steve West, Senior Consultant with Kite to explore the latest in genetics and genomics in dairy farming. They discuss the financial benefits of breeding for Ecofeed to improve feed efficiency and profitability, as well as how to build a genetic strategy to best fit your business. They also discuss the newly discovered gene responsible for muscle weakness in calves and the impact this could have. Please note: The information provided during this podcast has been prepared for general informational purposes only and does not constitute advice. The information must not be relied upon for any purpose and no representation or warranty is given as to its accuracy, completeness or otherwise. Any reference to other organisations, businesses or products during the podcast are not endorsements or recommendations of Dairy Consulting Ltd or its affiliated companies. The views of the presenter are personal and may not be the views of Dairy Consulting Ltd. The contents of this podcast are the copyright of Dairy Consulting Ltd.

Join The Beyond Terrain Community for free:https://beyond-terrain.circle.so/join?invitation_token=08c95fc3df8ff802b3bd05091df70e5a7bf0f297-2ceb428c-0b15-4d16-be23-81d5a8adb098Links:Part 1: https://www.youtube.com/watch?v=iUr5PW1r1oE&list=PLV0S9i-xQu5WHh2mgQ0aSd0Hm0ecemXm3&ab_channel=BeyondTerrainIn this episode, Dr. Jerneja Tomsic joins us to unravel the myths and misconceptions surrounding the genetic code, RNA, and gene editing.We begin by questioning the very foundation of modern biology—the so-called genetic code—and explore how much of what we believe is built on assumptions, models, and indirect inferences rather than direct observation.The conversation moves into the world of RNA, exposing the exaggerated claims about its role and supposed “superpowers” in diagnostics, vaccines, and cellular control.We then dive into paternity testing, forensic genetics, and heredity, raising serious questions about their reliability, interpretation, and the circular logic often used in these fields.Finally, we tackle the boldest claim of all: gene editing. We discuss GMO foods, to the GMO babies in china, revealing gene editing is more fantasy than science.A powerful and eye-opening episode that invites critical thinking and reclaims clarity in a field clouded by hype and narrative.Keep up with me (socials)https://www.instagram.com/beyond.terrain/https://beyondterrain.com/Our vision at Beyond Terrain is greatly supported by sharing our work!Become a Founding Member in the community!https://beyond-terrain.circle.so/checkout/founding-memberLearn more from and support our esteemed guest, Dr. Tomsichttps://x.com/zianiniSLO

A plan to revive the extinct Moa has sparked debate - and excitement - among experts. US company Colossal Bioscience has partnered with Ngai Tahu in a $50 million project to revive the flightless bird through gene editing and surrogate hatching. Thylacine Integrated Genomic Restoration Research Laboratory head Andrew Pask says bringing the moa back could help fix many of the environmental issues impacting New Zealand. "It's one of those species that we've lost due to humans coming into an environment - but these species were so critically important in maintaining the ecosystems which they came from." LISTEN ABOVESee omnystudio.com/listener for privacy information.

The Importance of BiodiversityDescription:This episode was originally released on October 31, 2022Conservation is often about protecting the species that still wander around our Earth. But what about those that once did but have gone extinct? In this Halloween-inspired episode, we take a look into how one spooky idea has gone from science fiction to science fact, de-extinction style.Dr. Kaylee Byers takes us to the upside-down world of wild animals in Australia. She sits down with Dr. Axel Newton whose research addresses how to resurrect a species that has been extinct for nearly a century. Also joining her is Dr. Carolyn Hogg who uses the latest genomic technology to understand the impacts of reintroducing endangered species into their native habitats. In this wacky tale of resurrection and 'devils' will the spirit of scientific discovery mean incredible changes for the future, or is a line being crossed that we can't come back from?References:1. Lab takes 'giant leap' toward thylacine de-extinction with Colossal genetic engineering technology partnership | The University of Melbourne2. Thylacine Integrated Genomic Restoration Research Lab (TIGRR Lab) | The University of Melbourne3. Thylacine: How we plan to de-extinct the Tasmanian tiger | Colossal Laboratories and Biosciences4. Extinction of thylacine | National Museum Australia5. A year after Australia's wildfires, extinction threatens hundreds of species | Science News6. Rewilding returns lost species to strengthen ecosystems | Science News7. Park Conscious | U.S. Dept. of Agriculture8. Endangered Tasmanian devils insured against future threats | The University of Sydney9. The 9 Steps to De-Extincting Australia's Thylacine | The University of Melbourne10. The Value of Reference Genomes in the Conservation of Threatened Species | Marsupial Genetics and Genomics11. Assessing evolutionary processes over time in a conservation breeding program: a combined approach using molecular data, simulations and pedigree analysis | Biodiversity and Conservation

Matters Microbial #98: Nesting Dolls of Endosymbiosis July 3, 2025 Today, Dr. John McCutcheon of Arizona State University joins the #QualityQuorum to discuss the work he and his research group do to investigate the strategies by which microbes become symbionts of other cells. After all, the mitochondria and chloroplasts of eukaryotic cells, including yours, were once bacteria! Host: Mark O. Martin Guest: John McCutcheon Subscribe: Apple Podcasts, Spotify Become a patron of Matters Microbial! Links for this episode A video about the symbiosis of Hydra virdissima, which captured my heart when I was young.  Look at those symbiotic algae!  Here is an overview of this topic. A video describing the Rhizobium – legume nitrogen fixing symbiosis in all of its glory—by my PhD advisor, the great Dr. Sharon Long.  Here is an overview of this topic.   An appreciation of Paul Buchner's very important book, “Endosymbiosis of Animals with Plant Microorganisms.” A wonderful review by Dr. McCutcheon on how symbioses form. A wonderful essay by Ed Yong about an event that made eukaryotic cells possible:  how bacteria became mitochondria. A story about an anaerobic protist that lost its mitochondria completely. A bacterial symbiont of mitochondria, the “midichlorian.” The recent discovery of a new integrated symbiont that has become an organelle, the nitrosome. The “X-bacteria” and amoebae story. A retrospective on endosymbiosis, and Paramecium based on Tracey Sonneborn's work. An essay on aphids and bacteria. An article on the Moranella/Tremblaya symbiosis. An article on “bacteria inside other bacteria” found in several symbioses, written by Dr.McCutcheon and colleagues. Genomic instability in bacterial endosymbionts. An article on cicadas and bacterial endosymbionts from Dr. McCutcheon and colleagues. An article on mealybugs and bacterial endosymbionts from Dr. McCutcheon and colleagues. Dr. McCutcheon's thoughts on his career path (so worth reading). The Center for Mechanisms of Evolution research institute in which Dr. McCutcheon works. Dr. McCutcheon's faculty website. Dr. McCutcheon's (and his research team's) wonderful research website. Intro music is by Reber Clark Send your questions and comments to mattersmicrobial@gmail.com

UCSF oncologist Dr. Jonathan Chou discusses how genetics and genomics are transforming the diagnosis and treatment of prostate cancer. He explains how inherited and acquired mutations—especially in DNA repair genes like BRCA2—can impact both cancer risk and treatment decisions. Dr. Chou outlines how UCSF researchers use tumor and blood-based biopsies to identify key mutations and genomic features that help tailor care for each patient. Examples include how genomic scores can predict response to radiation and how targeted therapies like PARP inhibitors benefit patients with specific mutations. The talk highlights the growing role of precision medicine in guiding individualized treatment plans based on the unique genetic profile of each patient's cancer. Series: "Prostate Cancer Patient Conference" [Health and Medicine] [Show ID: 40798]

UCSF oncologist Dr. Jonathan Chou discusses how genetics and genomics are transforming the diagnosis and treatment of prostate cancer. He explains how inherited and acquired mutations—especially in DNA repair genes like BRCA2—can impact both cancer risk and treatment decisions. Dr. Chou outlines how UCSF researchers use tumor and blood-based biopsies to identify key mutations and genomic features that help tailor care for each patient. Examples include how genomic scores can predict response to radiation and how targeted therapies like PARP inhibitors benefit patients with specific mutations. The talk highlights the growing role of precision medicine in guiding individualized treatment plans based on the unique genetic profile of each patient's cancer. Series: "Prostate Cancer Patient Conference" [Health and Medicine] [Show ID: 40798]

UCSF oncologist Dr. Jonathan Chou discusses how genetics and genomics are transforming the diagnosis and treatment of prostate cancer. He explains how inherited and acquired mutations—especially in DNA repair genes like BRCA2—can impact both cancer risk and treatment decisions. Dr. Chou outlines how UCSF researchers use tumor and blood-based biopsies to identify key mutations and genomic features that help tailor care for each patient. Examples include how genomic scores can predict response to radiation and how targeted therapies like PARP inhibitors benefit patients with specific mutations. The talk highlights the growing role of precision medicine in guiding individualized treatment plans based on the unique genetic profile of each patient's cancer. Series: "Prostate Cancer Patient Conference" [Health and Medicine] [Show ID: 40798]

UCSF oncologist Dr. Jonathan Chou discusses how genetics and genomics are transforming the diagnosis and treatment of prostate cancer. He explains how inherited and acquired mutations—especially in DNA repair genes like BRCA2—can impact both cancer risk and treatment decisions. Dr. Chou outlines how UCSF researchers use tumor and blood-based biopsies to identify key mutations and genomic features that help tailor care for each patient. Examples include how genomic scores can predict response to radiation and how targeted therapies like PARP inhibitors benefit patients with specific mutations. The talk highlights the growing role of precision medicine in guiding individualized treatment plans based on the unique genetic profile of each patient's cancer. Series: "Prostate Cancer Patient Conference" [Health and Medicine] [Show ID: 40798]

UCSF oncologist Dr. Jonathan Chou discusses how genetics and genomics are transforming the diagnosis and treatment of prostate cancer. He explains how inherited and acquired mutations—especially in DNA repair genes like BRCA2—can impact both cancer risk and treatment decisions. Dr. Chou outlines how UCSF researchers use tumor and blood-based biopsies to identify key mutations and genomic features that help tailor care for each patient. Examples include how genomic scores can predict response to radiation and how targeted therapies like PARP inhibitors benefit patients with specific mutations. The talk highlights the growing role of precision medicine in guiding individualized treatment plans based on the unique genetic profile of each patient's cancer. Series: "Prostate Cancer Patient Conference" [Health and Medicine] [Show ID: 40798]

In this episode, Professor Asim Surani, shares how his extensive research has significantly advanced the understanding of how the mammalian germline is specified, the mechanisms governing epigenetic reprogramming, and the critical conditions that maintain genomic integrity during early development. The discussion, led by Dr. Stefan Dillinger, provides an overview of Surani's journey into biology, the evolution of his research interests, and the pivotal discoveries that have shaped the field of epigenetics. Dr. Surani discusses the groundbreaking experiment he co-conducted in 1984 that led to the discovery of genomic imprinting. Initially a student involved in in vitro fertilization at Cambridge, he became intrigued by the implications of parthenogenesis in mammals. Challenging the prevailing cytoplasmic theory of development, Surani and his collaborators demonstrated that normal mammalian development requires contributions from both parental genomes, leading to the introduction of the concept of genomic imprinting—a term Surani defended to describe the phenomenon that he and his team observed. Surani's research then evolved toward understanding the mechanisms of genomic imprinting, particularly the role of DNA methylation. Throughout the interview, he details specific experiments that elucidated how genes could exhibit imprinted expression depending on the parental lineage, highlighting the importance of epigenetic factors in gene regulation. The revelation that DNA methylation marks were responsible for imprinting solidified the connection between genetic information and epigenetic influence in development. The conversation dives deeper into the mechanisms involved in germline specification and epigenetic reprogramming. Surani explains his transition into studying mammalian germline development and the intricacies of primordial germ cell specification. Working with his team, he utilized single-cell approaches to investigate gene expression profiles specific to germ cells, identifying critical factors like PRDM1 and PRDM14 that repress somatic gene programs while initiating germline-specific pathways. This work underscored the complex interplay of genetic and epigenetic factors that govern the development of germ cells. Another focus of the interview is the comparison of epigenetic resetting between mouse and human germlines. Surani addresses key differences in the timing and mechanisms of epigenetic reprogramming in humans, particularly the involvement of specific factors such as SOX17, which emerged as a crucial player in human germline specification, contrary to his earlier expectations. The discussion also highlights the technical challenges researchers face when studying human embryos due to ethical constraints, driving innovation in model systems such as stem cells to explore germline development.   References Surani MA, Barton SC, Norris ML. Development of reconstituted mouse eggs suggests imprinting of the genome during gametogenesis. Nature. 1984 Apr 5-11;308(5959):548-50. doi: 10.1038/308548a0. PMID: 6709062. Surani MA, Barton SC, Norris ML. Nuclear transplantation in the mouse: heritable differences between parental genomes after activation of the embryonic genome. Cell. 1986 Apr 11;45(1):127-36. doi: 10.1016/0092-8674(86)90544-1. PMID: 3955655. Ohinata Y, Payer B, O'Carroll D, Ancelin K, Ono Y, Sano M, Barton SC, Obukhanych T, Nussenzweig M, Tarakhovsky A, Saitou M, Surani MA. Blimp1 is a critical determinant of the germ cell lineage in mice. Nature. 2005 Jul 14;436(7048):207-13. doi: 10.1038/nature03813. Epub 2005 Jun 5. PMID: 15937476. Hajkova P, Ancelin K, Waldmann T, Lacoste N, Lange UC, Cesari F, Lee C, Almouzni G, Schneider R, Surani MA. Chromatin dynamics during epigenetic reprogramming in the mouse germ line. Nature. 2008 Apr 17;452(7189):877-81. doi: 10.1038/nature06714. Epub 2008 Mar 19. PMID: 18354397; PMCID: PMC3847605.   Related Episodes Epigenetic Reprogramming During Mammalian Development (Wolf Reik) Epigenetic and Metabolic Regulation of Early Development (Jan Żylicz) Epigenetic Mechanisms in Genome Regulation and Developmental Programming (James Hackett) Epigenetic Mechanisms of Mammalian Germ Cell Development (Mitinori Saitou) Exploring DNA Methylation and TET Enzymes in Early Development (Petra Hajkova)   Contact Epigenetics Podcast on Mastodon Epigenetics Podcast on Bluesky Dr. Stefan Dillinger on LinkedIn Active Motif on LinkedIn Active Motif on Bluesky Email: podcast@activemotif.com

Today we have Brad Barham discussing the rest of the genomic lots offered in the Dreaming of Triple Crowns at Keightley & Core Sale on June 28th. Listen in to hear what they are offering!

The Embryo Opportunity Sale at Pine Tree Dairy is offering Mini Jersey embryos and Brad Barham tells us about the demand for them. He also outlines some of the genomic lots in the Dreaming of Triple Crowns at Keightley & Core.

In this episode of Speaking of Mol Bio, Dr. Cath Moore of the Australian Genome Research Facility (AGRF) discusses how molecular biology technologies are helping to shape Australia's scientific landscape—from clinical genomics and conservation to bioremediation and agriculture. With over 20 years of experience in both academia and industry, Dr. Moore reflects on the remarkable evolution of genomic tools, from Sanger sequencing to high-resolution spatial multiomics.She unpacks AGRF's mission to democratize access to emerging technologies and highlights its role as an early adopter of platforms that help scientists translate academic research into real-world impact. Topics include non-mass spec proteomics, mine site rehabilitation through soil microbiome analysis, and the role of systems biology in modern science.Dr. Moore also discusses the importance of community education and literacy around genomics, emphasizing how public understanding is key to the safe adoption of emerging technologies like synthetic biology. Finally, she shares career insights and advice for aspiring scientists: stay curious, stay broad, and don't be afraid to pivot when your work no longer brings joy. Subscribe to get future episodes as they drop and if you like what you're hearing we hope you'll share a review or recommend the series to a colleague.  Visit the Invitrogen School of Molecular Biology to access helpful molecular biology resources and educational content, and please share this resource with anyone you know working in molecular biology. For Research Use Only. Not for use in diagnostic procedures.

- HER2-Positive Metastatic Breast Cancer - Biomarker, Genomic & Diagnostic Testing: Grade & Hormone Receptors - Standard Treatment Options, Including Targeted Therapy - How Biomarker Testing Informs Treatment Decisions - New & Emerging Targeted Treatments - Updates on Investigational New Drugs in Clinical Trials - How Research Contributes to Your Treatment Options - What's New in the Prevention & Management of Treatment Side Effects, Symptoms, Discomfort, Neuropathy, Pain & Long-Term Effects - Guidelines to Prepare for Telemedicine/Telehealth Appointments, Including Technology, Prepared List of Questions & Discussion of OpenNotes - Key Questions to Ask Your Health Care Team About Quality-of-Life Concerns - Questions for Our Panel of Experts

- HER2-Positive Metastatic Breast Cancer - Biomarker, Genomic & Diagnostic Testing: Grade & Hormone Receptors - Standard Treatment Options, Including Targeted Therapy - How Biomarker Testing Informs Treatment Decisions - New & Emerging Targeted Treatments - Updates on Investigational New Drugs in Clinical Trials - How Research Contributes to Your Treatment Options - What's New in the Prevention & Management of Treatment Side Effects, Symptoms, Discomfort, Neuropathy, Pain & Long-Term Effects - Guidelines to Prepare for Telemedicine/Telehealth Appointments, Including Technology, Prepared List of Questions & Discussion of OpenNotes - Key Questions to Ask Your Health Care Team About Quality-of-Life Concerns - Questions for Our Panel of Experts

- HER2-Positive Metastatic Breast Cancer - Biomarker, Genomic & Diagnostic Testing: Grade & Hormone Receptors - Standard Treatment Options, Including Targeted Therapy - How Biomarker Testing Informs Treatment Decisions - New & Emerging Targeted Treatments - Updates on Investigational New Drugs in Clinical Trials - How Research Contributes to Your Treatment Options - What's New in the Prevention & Management of Treatment Side Effects, Symptoms, Discomfort, Neuropathy, Pain & Long-Term Effects - Guidelines to Prepare for Telemedicine/Telehealth Appointments, Including Technology, Prepared List of Questions & Discussion of OpenNotes - Key Questions to Ask Your Health Care Team About Quality-of-Life Concerns - Questions for Our Panel of Experts

Robert walks Langston Kerman through the story of Dr. George Church, a very real scientist who co founded the company making bullshit claims of "de extincting" dire wolves. (2 Part Series) Sources: George Church, Colossal W*nker – For Better Science Can Gene Therapy Slow Ageing in Dogs? - Gowing Life Never-ageing Anti-aging to cure COVID-19 – For Better Science The original sins of Leonard Guarente – For Better Science Jeffrey Epstein Hoped to Seed Human Race With His DNA - The New York Times Biologist George Church apologizes for contacts with Jeffreyticl Epstein Genetics Company Wants To Bring Iconic Tasmanian Tiger Back From Extinction - Newsweek Gene editing company hopes to bring dodo ‘back to life’ | Extinct wildlife | The Guardian Jeffrey Epstein-Funded Geneticist Is Building a Dating App That Only a Eugenicist Could Love George Church Explains How DNA Will Be Construction Material of the Future - DER SPIEGEL Geneticist George Church gets funding for lab-grown woolly mammoths Wooly Mammoth De-extinction Scientist Reveals Plan To Create 'Arctic Elephant' - Newsweek Bringing back dinosaurs or making new ones? – DW – 06/10/2015 ‘If you’re not failing, you’re probably not trying as hard as you could be’ — Harvard Gazette CRISPR gene editing on human embryos may be dangerous Here are some actual facts about George Church’s DNA dating company | MIT Technology Review Scientist on the Loose: George Church Strays Into Eugenics—Again | Center for Genetics and Society So...What do we think of Colossal Biosciences? : r/pleistocene The "de-extinction" of the woolly mammoth, a "Colossal" hoax? - Genomic chronicles | Medicine/Science Hiltzik: New frontiers in pseudoscientific baloney - Los Angeles Times Colossal Liar Wolves – For Better Science Meet The Disruptors: How Ben Lamm & Hypergiant Are Shaking Up the Space and AI Industries | by Jason Hartman | Authority Magazine | Medium Millionaire Ben Lamm Warns Against Entrepreneurship - Great Entrepreneurs The Serial Entrepreneur Turned Billionaire: Ben Lamm’s Tech and Science Revolution | Where Business News Meets Thought Leadership How 39-year-old Ben Lamm has started five companies Meet Ben Lamm: The World's First De-extinction Billionaire - Forbes India Oral history interview with George M. Church - Science History Institute Digital Collections Dr. George Church, Founding Father of Genomics | News | W.I. The Church Of George Church The World Has a Data Storage Problem. Is DNA the Answer? - proto.life DNA: The Future of Data Storage?. DNA, with its amazing storage… | by Nithil Krishnaraj | TechTalkers | Medium See omnystudio.com/listener for privacy information.

In this podcast episode, host Ruchika Talwar, MD, is joined by Amin Mazloom, PhD, Senior Vice President of Bioinformatics, Biostatistics & Data Innovation, and Janine LoBello, DO, Senior Clinical Laboratory Medical Director at Exact Sciences to discuss patient-matched tumor-normal (PMTN) sequencing and why it matters for oncologists. Drs. Mazloom and LoBello discuss PMTN sequencing as a gold standard method for calculating tumor mutational burden and personalized therapy selection and share their thoughts on the future of cancer testing.

In this episode of Behind the Genes, we explore the hopes, concerns and complex questions raised by the idea of a lifetime genome — a single genomic record used across a person's life to guide healthcare decisions. Drawing on conversations from Genomics England's Public Standing Group on the lifetime genome, our guests explore what it might mean for individuals, families and society to have their genome stored from birth, and how it could transform healthcare. The discussion reflects on the potential for earlier diagnoses, better treatments and long-term prevention, alongside pressing ethical concerns such as data security, consent, and the impact on family dynamics. Participants share their views and discuss the future role of genomic data in medicine, with insights into how trust, equity and public dialogue must shape this evolving field. Our host for this episode, Dr Harriet Etheredge, is joined by Suzalee Blair-Gordon and Gordon Bedford, two members of the Genomics England's Public Standing Group on the lifetime genome, and Suzannah Kinsella, Senior Associate at Hopkins Van Mil, a social sciences research agency that helped to facilitate this work. Together, they consider the broader societal implications of lifetime genomic data, and how public involvement can help guide policy and practice in the UK and beyond. This conversation is part of our ongoing work through the Generation Study, exploring how genomics can be used responsibly and meaningfully from birth onwards. You can listen to some of our Generation Study episodes by following the links below. What can we learn from the Generation Study? How has design research shaped the Generation Study? What do parents want to know about the Generation Study?   "This isn't just a science project, it's about designing a future where everyone feels included and protected. We need more voices, parents, young people, underrepresented communities, to keep shaping it in the right direction."   You can download the transcript, or read it below. Harriet: Welcome to Behind the Genes. Suzalee: I have come to terms with the thought that life is unpredictable and I have already begun to accept any health condition that comes my way. Believe you me, I have been through the stage of denial, and yes, I have frozen upon hearing health diagnoses in the past but now I believe that I am a bit wiser to accept the things that I cannot change and to prepare to face the symptoms of whatever illness I am to be dealt with or to be dealt to me. If the analysis of my genome can help me to prepare, then yes, I am going to welcome this programme with open arms.  Harriet: My name is Harriet Etheredge, and I am the Ethics Lead on the Newborn Genomes Programme here at Genomic England. On today's episode I'm joined by 3 really special guests, Suzalee Blair and Gordon Bedford, who are members of Genomics England's Public Standing Group on Lifetime Genomes, and Suzannah Kinsella, Senior Associate at Hopkins Van Mil, a social sciences research agency that has helped us to facilitate this work.  Today we'll be discussing the concept of the lifetime genome. What do we mean when we say, ‘lifetime genome'? How can we realise the promise of the lifetime genome to benefit people's healthcare whilst at the same time really appreciating and understanding the very real risks associated? How do we collectively navigate ethical issues emerging at this genomic frontier? If you enjoy today's episode, we would really love your support. Please share, like and give us a 5-star rating wherever you listen to your podcasts. And if there's a guest that you'd love to hear on a future episode of Behind the Genes, please contact us on podcast@genomicsengland.co.uk. Let's get on with the show. I'll start off by asking our guests to please introduce yourselves.  Suzalee, over to you.  Suzalee: Thanks, Harriet. So I am a proud mum of two kids, teacher of computing at one of the best academic trusts in the UK, and I am also a sickler, and for those who don't know what that means, I am living with sickle cell disease.  Harriet: Thank you so much, Suzalee. Gordon, over to you.  Gordon: I'm Gordon Bedford, I'm a pharmacist based in The Midlands. I've worked in hospital and community pharmacy. I have a genetic condition, which I won't disclose on the podcast but that was my sort of position coming into this as I'm not a parent of children, but it was coming in from my perspective as a pharmacist professional and as a member of society as well.  Harriet: Thank you so much, Gordon. And, last but certainly not least, Suzannah.  Suzannah: So, yes, Suzannah Kinsella. I am a social researcher at Hopkins Van Mil, and I had the pleasure of facilitating all of the workshops where we gathered together the Public Standing Group and working on reporting the outcome from our discussions, so delighted to be coming in from South London. Harriet: Thank you so much, everyone, and it's such a pleasure to have you here today. So, many regular listeners to Behind the Genes will now that Genomics England is currently undertaking the Generation Study. I'm not going to speak about it in much detail because the Generation Study has already been the subject of several Behind the Genes podcasts and we'll put some links to these in the show notes for this episode. But briefly, the Generation Study aims to analyse whole genomes of 100,000 newborn babies across England, looking for 250 rare conditions. We have a view to getting these children onto treatments earlier and potentially enhancing their lives.  The Generation Study is a research project because we don't know if the application of this technology will work. And as a research project we can also answer other important questions, such as questions about a lifetime genome. When we invite parents to consent to the Generation Study on behalf of their newborn babies, we ask to store babies' genomic data and linked healthcare data in our trusted research environment.  This helps us to further research into genes and health. But a critical question is ‘what do we do with these data long term?' And one of the potential long-term uses of the data is to revisit it and re-analyse it over a person's lifetime.  We could do this at critical transition points in life, like adolescence, early adulthood or older age, with the aim of using the genomic data to really enhance people's health. But this is a very new concept. There's been little work on it internationally, however I am pleased to say that interest seems to be picking up. In the Generation Study, whilst we are at the present time doing no lifetime genomes work, we are looking to explore the benefits, risks and potential uses of the lifetime genome.  This Public Standing Group on lifetime genomes was our first foray into this area.  So, I'd like to start off by inviting Suzannah to please explain a bit more about what the Public Standing Group is, why it was created and how a group like this helps us to generate early deliberation and insight.  Suzannah: So, the first thing I should talk about is who were these 26 people that formed part of this group, and the first thing to say is that they were a wide range of ages and backgrounds from across England, so some from Newcastle, some from London and everywhere in between. And these 26 people all had one thing in common, which is they had all taken part in a previous Genomics England public dialogue, either the whole genome sequencing for newborn screening which took place in 2021, or in a more recent one in about 2022/23 which was looking at what should Genomics England think about in terms of research access to data that's drawn from the Generation Study. So, the great thing was that everybody had already some previous knowledge around genomics, but the concept of a lifetime genome was completely new. So these 26 people met on 5 occasions over the period of 2024, mostly meeting face to face, and really the task that they were given was to look at the lifetime genome and look at it from every angle; consent, use, information sharing and all sorts of other aspects as well. Harriet: Gordon and Suzalee, you were participants in our Public Standing Group, I'd love to hear from you what your roles in the Standing Group were and what you found most interesting, but also for you which bits were the most challenging. Suzalee, shall we start with you? Suzalee: For me the most interesting bits were being able to learn about one's genome and, through Genomics England and their possible use of pharmacogenetics, could determine the specific medication that could be prescribed for a new health condition instead of expensive and possibly tonnes of adverse side effects trial and error medications. Additionally, as a person living with sickle cell disease, I got the chance to share my story and to give voice to people living with the same condition or similar to myself, and how the potential of the genomics newborn programme could help our future generation. There were some tricky bits, and the most challenging bit was to initially discuss and think about the idea of whether or not a parent might choose to know or not to know the potential of their newborn developing or prone to develop a certain condition based on the data received from the programme. My thought went back to when I gave birth to my first child 16 years ago and I was adamant to know if my child would inherit the sickle cell disease, what type, if it would be the trait. In my mind I knew the result, as my haemoglobin is SC and their dad is normal, but I wanted to be sure of my child's specific trait. But then I asked myself, “What if my child was part of the Newborn Genomes Programme, then the possibility exists that other health conditions could be detected through the deep analysis of my child's genome. Would I really want to know then? What would be the psychological effect or, in some cases, the social impact of what I have to learn?” Harriet: Thank you so much, Suzalee. And I think it's just wonderful to hear about the personal impacts that this kind of work can have and thank you for bringing that to us.  Gordon, I'll hand over to you. I'd be really interested in your thoughts on this. Gordon: So my role in the Public Standing Group was to give my section of society my experiences in life to bring them together with other people, so experiences like Suzalee and the 24 other people that joined us on the study, to bring our opinions together, to bring our wide knowledge and group experiences of life. And it's important to have a wide group, because it forces us to wrestle with differences of opinion. Not everybody thinks like I do.  As a pharmacist, I can see the practical side of genomics, like pharmacogenomics, where we could use a baby's genome to predict how they'll respond to drugs over their lifetime. That's a game-changer for avoiding adverse reactions or ineffective treatments, but not everybody's sold on it. Some in our group worried about privacy, who gets this data, or ethics, like whether it's fair to sequence a baby who can't say yes or no. I get that. I don't have children, but I hear those things clearly. The most interesting bits for me, the pharmacogenomics discussion in meeting two stood out, everyone could see the tangible benefits of tailoring medicines to a person's genome, making treatments more effective, and in Meeting 5 designing our own lifetime genome resource was also fascinating. Ideas like it for public health research showed how far-reaching this could be. Some of the challenging sides of things that I came across, the toughest part was grappling with unknowns in Meeting 4, like how to share genetic info with your family without damaging relationships. Those risks felt real, and it was hard to balance them against the benefits, especially when trust from groups like minority ethnic communities is at stake. Harriet: Thank you so much, Gordon. I think from you and Suzalee it's so fascinating to hear how you were grappling, I think, with some of your personal and professional feelings about this and your deeply-held personal views and bringing those first of all out into the open, which is something that is very brave and we really respect and admire you doing that, and also then understanding that people do hold very different views about these issues. And that's why bring these issues to an engagement forum because it's important for us to hear those views and to really understand how people are considering these really tricky ethical issues. So, Suzalee, I'm wondering from your perspective how do you feel we can really be respectful towards other people's points of view? Suzalee: Yes, Harriet. In spite of the fact that we had different viewpoints on some topics discussed, every member, researcher, presenter and guests were respectful of each other's point of view. We all listened to each other with keen eyes, or sometime squinted eyes, with a hand on the chin which showed that what was being said was being processed or interpreted. All our views were recorded by our researchers for further discussion and analysis, therefore I felt heard, and I believe we all felt heard.  Harriet: Do you have any examples that you can recall from the groups where there were differing points of view and how we navigated those? Gordon: Where we had screening at age 5, but we agreed on an opt-out model, because it could help spot issues early. But some worried - psychological impacts, knowing too much too soon. But we looked at an opt-out model rather than an opt-in model because it's easier to say to somebody, “If you don't want to continue with this, opt out” rather than trying to get everybody opting in at every different age range. So, as we reach the age of 5, 10, 15, 20, whatever, it's easier to get people to opt out if they no longer want to be part of that rather than trying to get them to opt in at each stage throughout their life. Harriet: Suzannah, do you have anything to add there as a facilitator? How did you feel about bringing these different points of view together? Suzannah: Yeah, you asked about where are the tensions, where do people maybe agree a bit less or agree and hold different views, and I think what stands out is particularly…  There was an idea floated by one of the speakers about you could have your DNA data on an NHS app and then, let's say if you're in an emergency, a paramedic could have access to it or others. And that really I think brought out quite a wide range of perspectives of some in the group feeling, “You know what, anyone who has an interest, anyone that can help my health, let them have access to it as and when, completely fine,” and others took a more cautious approach saying, “This is my DNA, this is who I am, this is unique to me, my goodness, if someone, some rogue agent manages to crash the system and get hold if it goodness knows what nightmare scenario it could result in,” and so had a much more keep it locked down, keep it very limited approach to having access to your lifetime genome data and so on. So that was a really interesting example of people going, “Yep, make it free” and others going, “No, just for very specific NHS roles,” which I thought was fascinating. Harriet: Yeah, thank you so much, Suzannah. And I think it's a real tangible challenge that those of us working in this area are trying to grapple with, is finding the middle ground here with all of the challenges that this involves, for instance, our data infrastructure and the locations at which data are held. Advert: The Genomics England Research Summit is fast approaching and registration is now open! Join us for this one day in-person event on Tuesday 17 June 2025. This year's agenda dives into rare condition diagnosis, cancer genomics, pharmacogenomics, therapeutic trials, and the impact of emerging technologies. Hear from leading experts and inspirational speakers as we explore the present and future of genomics and the latest research and technology from the Genomics England research community. Keep an eye on the website, genomicsresearchsummit.co.uk for all the details and to secure your spot. Spaces are limited, so don't miss out. We'll see you at the summit! Harriet: I think this brings us really nicely onto looking at some of the ethical, legal and social issues that we need to think through when we're considering the lifetime genome.  I'm wondering if we can expand on some of these and the importance of addressing them. Gordon, would you like to give us your thoughts? Gordon: Sure, thank you. Our job was to dig into how a baby's genome could be used over the lifetime, think pharmacogenetics for better drugs, early childhood screening for conditions or carrier testing to inform family planning. We saw huge potential for individual health like catching diseases early, but also broader impacts like reducing NHS costs through prevention. Weighing the risks and benefits. The benefits like earlier diagnosis or research breakthroughs grew clearer over time with ratings rising from 4.1 to 4.7 - that's out of, I believe, a figure of 5, but risks like data breaches and family tensions over shared genetics stayed significant. We agreed the benefits could outweigh the risks but only with mitigations like transparent governance and strong security. And what are the global implications moving forward? What we discussed isn't just for the UK, it's feeding into the global conversation about newborns in genomic research. That responsibility made us think hard about equity, access, and how to build public trust. Harriet: Thank you, Gordon, I think there's so much there to unpack. And one point I think in particular that you've mentioned, and this came out really strongly as one of our main findings from these groups, was the way that a lifetime genome and the way that we might deliver that information could really impact family dynamics in ways that we might not have really thought of before or in ways that we really have to unpack further. And, Suzalee, I'd love to hear from you about this, how might diverse family dynamics need to be considered? Suzalee: Harriet, as it relates to diverse family dynamics a burning legal issue, which is then triangulated into being considered an ethical issue as well as a social issue, was the question can siblings of sperm donors be informed of life-threatening genomic discoveries? Whose responsibility is it? Will policies now have to be changed or implemented by donor banks to take into consideration the possibility of families being part of the new genomes programme? Harriet: Yeah, thank you, Suzalee. I think there's so much there that we have to unpack and in the Generation Study we're starting to look at some of those questions, but going forward into potential risks, benefits and uses of the lifetime genome, all of these new technologies around human reproduction are things that we're going to have to consider really, really carefully through an ethical and legal lens. Suzannah, I wondered if you have anything to add to these as major ethical issues that came out in these groups. Suzannah: I think, as you say, people were so fascinated by the idea of this information landing in a family, and where do you stop? Do you stop at your siblings, your direct family, the brothers and sisters of a child?  Do you go to the cousins?  Do you go to the second cousins?  It's this idea of where does family stop. And then people were really interested in thinking about who does the telling, whose job is it? And we had this fascinating conversation – I think it was in Workshop 3 – where this very stark fact was shared, which is the NHS doesn't know who your mother or your father or your siblings are; your NHS records are not linked in that way. And so that presented people with this challenge or concern that “Actually, if I get quite a serious genetic condition diagnosed in my family whose job is it to share that information, what support is there to do that and how far do we go?”  So, I think people were really fascinated and hopeful that Genomics England will really be at the vanguard of saying, “How do we as we move into an era of more genetic data being used in our healthcare, how's that managed and how's it shared?” Harriet: Yeah, thank you so much, Suzannah. So I think that what's coming out through everything that you're all saying is the huge breadth of issues that came up here. And of course we're seeing, very encouragingly, so many nods to the potential benefits, especially around things like pharmacogenomics, but we are seeing some risks.  Gordon, I wondered if you'd like to elaborate a bit further. Gordon: So, something that came up, and it divided the group quite considerably, carrier status divided us. Some saw it as reducing disease prevalence and others feared it could fuel anxiety or stigma amongst the family or other families. It showed how personal these choices are and why families need control over what they learn. Harriet: Yeah, it's a very good point, and carrier status is something that could be a conceivable use of our lifetime genome record. Suzannah? Suzannah: Just building off what Gordon was talking about, I remember there were also discussions around are we getting into a state where this is about eradication of so many different conditions, and actually how does that sit with a society that is more embracing, accommodating and supportive of people with different health needs. So, I think that was quite a big ethical discussion that was had, is, and particularly where we think about what we screen for in the future over time and so forth, people really being conscious that “Actually, where are we going with this? Are we risking demonising certain conditions and saying we don't want them on the planet anymore and what are the consequences of that?” Advert: If you're enjoying what you've heard today and you'd like to hear some more great tales from the genomics coalface, why don't you join us on the Road to Genome podcast, where our host, Helen Bethell, chats to the professionals, experts and patients involved in genomics today. In our new series, Helen talks to a fantastic array of guests including the rapping consultant, clinical geneticist Professor Julian Barwell about Fragile X Syndrome, cancer genomics and the holistic approach to his practice. A genuine mic-drop of an interview. The Road to Genome is available wherever you get your podcasts. Harriet: And I think came to a point in our final meeting where we were asking our participants, so Suzalee and Gordon and everybody else in the room, whether you might consider having a lifetime genome for yourself and what that would look like. We'd love to share your views about that, and Suzalee, I'm wondering if you can share your thoughts on that with us first. Suzalee: Definitely. I would wholeheartedly be interested in the lifetime genome programme if it was offered to me right now. I believe that the pros for me are phenomenal. I have come to terms with the thought that life is unpredictable and I have already begun to accept any health condition that comes my way. Believe you me, I have been through the stage of denial, and yes, I have frozen upon hearing health diagnoses in the past but now I believe that I am a bit wiser to accept the things that I cannot change and to prepare to face the symptoms of whatever illness I am to be dealt with or to be dealt to me. If the analysis of my genome can help me to prepare, then yes, I am going to welcome this programme with open arms. Harriet: Thank you, Suzalee. And, Gordon, how did you feel about it? Gordon: Being part of the group showed me how genomics is both thrilling and daunting.  I'd lean towards ‘yes' for a lifetime genome resource for the chance to detect conditions early, but I get why some people may say ‘no' over the data fears or ethical lines. This isn't just a science project, it's about designing a future where everyone feels included and protected. We need more voices, parents, young people, underrepresented communities, to keep shaping it in the right direction. Laws would have to be enacted regarding the storage, use and availability of genetic data. We haven't yet seen as well, how AI's complete benefits in medicine will develop over time. Harriet: Thank you so much, Gordon and Suzalee, for sharing that. And, Suzannah, I know that at the end of the Public Standing Group we generally asked all of our participants whether they would choose to have a lifetime genome, the same sort of question I've just asked Suzalee and Gordon. I wondered if you could just briefly give us an overall sense of how the Public Standing Group participants felt about that. Suzannah: Yes, so it's interesting to see that actually not everyone said, despite spending a year or almost a year discussing this, not everyone said, “Sign me up,” 6 said, “No” or “Maybe.” And the reasons they gave, this idea, “Well, all this data, could a government sell it off?  What guarantees have we got?”  So that was a reason. Somewhat of a concern also about breaches but also this idea of “What do I really want to know? Do I want to have a lifetime resource that can tell me what's going to happen next in my health?” and some say, “Let me deal with it when the symptoms start coming and that's the way I want to handle it.”  So, yeah, about 20 said, “I'd be really interested,” similar to Suzalee and Gordon, 6 on the fence or firmly, “No thanks.” Harriet: Thank you so much, Suzannah. I think your point about uncertainty there is so relevant and important to us. We see uncertainty across genomics and we're layering that here with uncertainty about futures, we're layering that with uncertainty about health. And I hope that this has served to really illustrate the magnitude of the challenge we're looking at here and I think also why for us as Genomics England this is just something we're exploring. There's so much to unpack, there's so much still to be done. In terms of our next steps for Genomics England, it feels like we could speak about this for a week but I'm going to have to wrap it up here. So, for us what are our next steps?  We hope really that as we publicise the findings of this Public Standing Group and when we start combining some of our work and looking at it in harmonisation with the work that others are doing across the world, we might be better positioned to understand the potential future directions that a lifetime genome could take. That's obviously very, very exciting because we expect to see this area of enquiry expanding significantly over the coming years.  And we're already hearing about a number of other countries who are also doing birth cohort studies like we are who might hope to use similar applications of the lifetime genome going forward. So, there's a real opportunity for us here to collaborate and it's really heart-warming that the voices of our participants in this Public Standing Group can be used to facilitate that level of engagement. For us at the Generation Study, we're already looking at the next iteration of our lifetime genomes work and we're being led by the findings of this Public Standing Group as we move forward, specifically in that we're going to be starting to take some of these emerging themes to the parents of our Generation Study babies to really find out how they would feel about them. Harriet: I'd like to extend my sincere gratitude to all for being my guests today, Suzannah Kinsella, Suzalee Blair and Gordon Bedford. Thank you so much for your time and joining me in this discussion of the lifetime genome. If you'd like to hear more content like this, which I am sure you would, please subscribe to Behind the Genes on your favourite podcast app. Thank you so much for listening. I've been your host, Dr Harriet Etheredge.  This podcast was edited by Bill Griffin at Ventoux Digital and produced by Deanna Barac for Genomics England.

This episode was originally released on September 19, 2023Is the world running out of bananas? Well, no. Not…yet — but nature is flashing a big, yellow, squishy "caution" sign. In this episode, Dr. Kaylee Byers peels away our assumptions about food security by looking at bananas. Venturing Down Under, we connect with Dr. James Dale from Queensland University of Technology – a bona fide banana expert, who tells us exactly why this iconic yellow fruit could one day become a rarity. But, with the help of a clever genomic idea, he and his intrepid team of Aussie researchers and farmers are looking at how to hit "abort" on complete Bananageddon.Special thanks to Mark Smith with Darwin Fruit Farm Party Limited for providing field recordings for this episode.References:Why Don't Banana Candies Taste Like Real Bananas? | Science FridayWhat We Can Learn From the Near-Death of the Banana | TIMEBanana Wars: Power, Production, and History in the Americas | Duke University PressChinese coolies | National Library BoardThe Story of the Cavendish Banana | Tenerife WeeklyNot your mother's banana | BananageddonFungal attacks threaten global food supply, say experts | The GuardianThe banana is dying. The race is on to reinvent it before it's too late | WiredQUT-developed GM Cavendish offers safety net to world banana industry | Queensland University of TechnologyCredit:Journey to Banana Land: By the United Fruit Company (1950) | Institute of Visual TrainingAg Report: Fighting rural farm crime; banana disease; and ag grant award | ABC News

This fascinating episode on health and wellness features Michael Snyder, a Professor in Stanford University School of Medicine's Department of Genetics. Michael is widely considered a leader in the field of functional genomics and proteomics – and is a major participant of the ENCODE project. Trained as a microbiologist, Michael is dedicated to gaining a global perspective on health care. Because many aspects of our medical system are broken, he is focused on refining the fields of genomics and proteomics with cutting-edge research. How is technology changing the way we monitor our bodies? Michael sits down to explain… Join the conversation now to find out: Measurements used to indicate when and if someone is getting sick. How your resting heart rate is connected to your immune system. The benefits of using a smartwatch as a health monitor. How monitoring presymptomatic individuals can be used to identify upcoming diseases. You can learn more about Michael and his work by visiting his laboratory website! Episode also available on Apple Podcasts: apple.co/30PvU9C

When hear the term 'genetic engineering', what do you think of? Does your mind immediately jump to the extreme thoughts of eugenics and creating 'the perfect human'? Or do you think of more socially acceptable genetic modifications to treat medical diseases such as cancer and inflammation? Well regardless of what you facet of genetic modification you think of, genetic engineering in any form is considered controversial by many. So what exactly is genetic engineering, and how is it be using to both treat disease and to alter some of our available choices for the babies we are producing? Dr. Eben Kirksey joins the podcast. Learn more about Eben Kirksey and his multiple books at https://eben-kirksey.space Hosted on Acast. See acast.com/privacy for more information.

This podcast is brought to you by Outcomes Rocket, your exclusive healthcare marketing agency. Learn how to accelerate your growth by going to outcomesrocket.com The key to improving patient outcomes and lowering healthcare costs lies in effectively integrating genomic insights into clinical decision-making.  In this episode, Surya Singh, CEO of InformedDNA, discusses how his company uses technology and genetic information to enhance population health. He shares the recent acquisition of Coriell Life Sciences, a pharmacogenomics company, to expand its proactive healthcare capabilities. With a background as a physician and healthcare strategist, Surya emphasizes the importance of shifting from reactive to preventive care. He also highlights the launch of DNA Impact, a population health platform designed to identify and support at-risk individuals by streamlining the genetic testing process and addressing the underutilization of validated genetic assessments. Tune in and learn how genomic solutions can revolutionize healthcare and improve patient outcomes! Resources:  Connect and follow Surya Singh on LinkedIn. Learn more about InformedDNA on their LinkedIn and website. Discover more about DNA Impact here. Buy Good to Great by Jim Collins here. Grab a copy of Turning the Flywheel by Jim Collins here. Get the book Accelerating Growth by Vern Davenport here. Fast Track Your Business Growth: Outcomes Rocket is a full-service marketing agency focused on helping healthcare organizations like yours maximize your impact and accelerate growth. Learn more at outcomesrocket.com

Featuring an interview with Dr Adrienne G Waks, including the following topics: The Phase III AFT-38 PATINA trial of palbociclib combined with anti-HER2 therapy for hormone receptor (HR)-positive/HER2-positive metastatic breast cancer (mBC) (0:00) Role of immunotherapy in the treatment of breast cancer (8:30) Defining ER-low breast cancer and identifying treatment approaches for this histologic subtype (15:55) Genomic testing approaches for patients with localized breast cancer and identification of candidates for treatment with adjuvant olaparib (19:37) Current role of anthracyclines in the treatment of localized breast cancer (31:17) Available and novel antibody-drug conjugates for the treatment of breast cancer (41:21) Palbociclib with endocrine therapy compared to chemotherapy induction followed by endocrine therapy maintenance for HR-positive, HER2-negative mBC (51:53) CME information and select publications

DSD 6.3 | Big Picture Management Decisions Matter Timeless dairy management decisions, such as voluntary waiting period & days dry, have recently been the topic of interest across the globe. Scrutiny to illuminate the ideal to maximize productive life has left the industry questioning convention.   Michael Overton, DVM at Zoetis worked with co-author Steve Eicker to tease out the answers to these questions from a a massive dataset of 109,000 cows across 60 herds nationwide. This retrospective, observational research project was recently published in the Journal of Dairy Science titled, “Associations between days open and dry period length versus milk production, replacement, and fertility in the subsequent lactation in Holstein dairy cows”. All dairymen should pause to determine the unintended consequences of their management decisions on optimal performance and ultimately the economic success of the herd. Listen in to learn ways to apply concepts from this project to your operation. Topics of discussion 1:33       Introduction of Dr. Overton 2:54       Difference between association vs causation 4:28       Description of data set 4:51       Genomic testing, background 6:31       Advising herds on selection indices DWP$ 10:02     Different measurements collected – carry over impact of days dry and days open 11:50     Figure 4: Impact of previous days open and previous days dry on cumulative milk 14:04     Risk of replacement and impact of mastitis 18:05     How many sins is a dairyman willing to forgive? 19:46    What does your data say for optimal VWP 22:27     Twin events or sex of calf 24:59     Figure 7: Risk of pregnancy   28:46     What do you want Boots on the Ground dairy producers to gain from the project?  Featured Article: Associations between days open and dry period length versus milk production, replacement, and fertility in the subsequent lactation in Holstein dairy cows #2xAg2030; #journalofdairyscience; #openaccess; #MODAIRY; #daysdry; #milk; #previousdaysopen; #VWP; #daysdry; #DWP$; #Zoetis; #dairysciencedigest; #ReaganBluel; 

This week on The Genetics Podcast, Patrick is joined by Dr. John Lepore, physician-scientist and CEO of ProFound Therapeutics. They discuss ProFound Tx's mission to expand the proteome to identify novel drug targets – which resulted in the ProFoundry atlas – and the ways in which John's diverse experiences inform his approach as a leader.Show Notes: 0:00 Intro to The Genetics Podcast00:59 Welcome to John02:01 John's background at GSK and his transition to drug discovery05:45 Establishing ProFound Therapeutics to expand the proteome and identify novel drug targets 08:27 Genomic origins of newly-identified proteins and the process of finding them09:49 Developing the ProFoundry atlas and integrating data across assays 15:27 Different approaches to inferring protein links and association to disease17:13 Collaboration with Pfizer to find regulators in the context of obesity18:04 Developing novel antibody-drug conjugates for cancer treatment20:27 Clarifying causality in proteomic data21:59 Approaching novel targets while considering industrial and business factors25:19 John's background as a cardiologist and how that impacts his current work27:26 Tips for biotech companies looking to be noticed by pharma for collaborations30:30 Considerations for investigating new and different therapeutic modalities and techniques33:39 How John consistently reinforces the translational angle as a business leader36:24 Closing remarks and future direction for ProFound TherapeuticsFind out moreProFound Therapeutics (https://www.profoundtx.com/)Please consider rating and reviewing us on your chosen podcast listening platform! https://drive.google.com/file/d/1Bp2_wVNSzntTs_zuoizU8bX1dvao4jfj/view?usp=share_link

Dr. Thomas Chen, Founder, CEO, and CSO of NeOnc Technologies, is working on the challenge of delivering drugs across the blood-brain barrier by using an intranasal delivery approach to target brain cancers. This delivery platform leverages the cranial nerve to transport the drugs directly to the brain, bypassing the blood-brain barrier. Genomic analysis of the long-surviving patients in the phase one trial revealed a common genetic mutation, informing the trial design for the next phase. Thomas explains, "So our platform is what we call intranasal delivery. And with the intranasal delivery, we're not trying to cross the blood-brain barrier. We're trying to cross over it. And how we're doing that is doing the delivery of the drug via what we call the C nerves. Now the cranial nerves are, we have 12 cranial nerves in our brain. These cranial nerves have various functions, but the cranial nerves involved with the nasal brain delivery are the first and the fifth cranial nerves. The first cranial nerve is what we call the olfactory nerve. That's the nerve that's responsible for smell. The fifth cranial nerve is called the trigeminal nerve, which involves facial sensation and allows us to chew."   "So what happens is that when we want to deliver the drug to the brain cancer, we have the patient inhale it. When the patient inhales, it goes through the nose, and through the olfactory nerve, it goes to the brain. Usually, that molecule then absorbs in the spinal brain and then circulates to the target, in this case, brain cancer. Now you know how powerful that cranial nerve is from the standpoint of what it does when you smell something, that scent, that odor gets transported from the olfactory nerve to our brain. And that's basically what we're doing. We're taking something external to the brain, allowing the cranial nerve to absorb and transport it to the brain." #NeOnc #BloodBrainBarrier #BBB #BrainCancer #DrugDelivery neonc.com Download the transcript here

Dr. Thomas Chen, Founder, CEO, and CSO of NeOnc Technologies, is working on the challenge of delivering drugs across the blood-brain barrier by using an intranasal delivery approach to target brain cancers. This delivery platform leverages the cranial nerve to transport the drugs directly to the brain, bypassing the blood-brain barrier. Genomic analysis of the long-surviving patients in the phase one trial revealed a common genetic mutation, informing the trial design for the next phase. Thomas explains, "So our platform is what we call intranasal delivery. And with the intranasal delivery, we're not trying to cross the blood-brain barrier. We're trying to cross over it. And how we're doing that is doing the delivery of the drug via what we call the C nerves. Now the cranial nerves are, we have 12 cranial nerves in our brain. These cranial nerves have various functions, but the cranial nerves involved with the nasal brain delivery are the first and the fifth cranial nerves. The first cranial nerve is what we call the olfactory nerve. That's the nerve that's responsible for smell. The fifth cranial nerve is called the trigeminal nerve, which involves facial sensation and allows us to chew."   "So what happens is that when we want to deliver the drug to the brain cancer, we have the patient inhale it. When the patient inhales, it goes through the nose, and through the olfactory nerve, it goes to the brain. Usually, that molecule then absorbs in the spinal brain and then circulates to the target, in this case, brain cancer. Now you know how powerful that cranial nerve is from the standpoint of what it does when you smell something, that scent, that odor gets transported from the olfactory nerve to our brain. And that's basically what we're doing. We're taking something external to the brain, allowing the cranial nerve to absorb and transport it to the brain." #NeOnc #BloodBrainBarrier #BBB #BrainCancer #DrugDelivery neonc.com Listen to the podcast here

In this episode of the Onc Now Podcast, host Jonathan Sackier is joined by Heather McArthur, Associate Professor in the Department of Medicine at University of Texas, UT Southwestern Medical Center, USA. They discuss recent advancements in breast cancer immunotherapy and the future of personalised care.  Timestamps:    00:00 - Introduction  01:20 - Transformative breakthroughs in immunotherapy  03:51 - Communicating new research to the public  05:48 - Racial disparities in cancer screenings  07:22 - Unmet needs in treating triple-negative breast cancer  11:48 - Genomic profiling and molecular pathways   13:30 - Barriers to personalised treatment plans  15:09 - Designing and conducting large-scale, international trials  19:16 - Optoacoustic imaging in cancer  22:52 - The ‘first' cell and the heterogeneity of breast tumours  25:21 – Heather's three wishes for healthcare 

Thanks to Tim and Mia who suggested one of this week's animals! Further reading: Genomic insights into the evolutionary origin of Myxozoa within Cnidaria A tardigrade, photo taken with an electron microscope because these little guys are incredibly tiny: Show transcript: Welcome to Strange Animals Podcast. I'm your host, Kate Shaw. This week we're going to talk about two microscopic or almost microscopic animals, one suggested by Mia and Tim, the other one I just learned about myself. We'll start with Mia and Tim's suggestion, the water bear, also known as the tardigrade. We've talked about it before but there's always more to learn about an animal. The water bear isn't a bear at all but a tiny eight-legged animal that barely ever grows larger than 1.5 millimeters. Some species are microscopic. There are about 1,300 known species of water bear and they all look pretty similar. It looks for all the world like a plump eight-legged stuffed animal made out of couch upholstery. It uses six of its fat little legs for walking and the hind two to cling to the moss and other plant material where it lives. Each leg has four to eight long hooked claws. It has a tubular mouth that looks a little like a pig's snout. An extremophile is an organism adapted to live in a particular environment that's considered extreme, like undersea volcanic vents or inside rocks deep below the ocean floor. Tardigrades aren't technically extremophiles, but they are incredibly tough. Researchers have found tardigrades in environments such as the gloppy ooze at the bottom of the ocean and the icy peaks of the Himalayas. It can survive massive amounts of radiation, dehydration for up to five years, pressures even more intense than at the bottom of the Mariana Trench, temperatures as low as -450 Fahrenheit, or -270 Celsius, heat up to 300 degrees Fahrenheit, or 150 Celsius, and even outer space. It's survived on Earth for at least half a billion years. Mostly, though, it just lives in moss. Not every tardigrade is able to do everything we just talked about. They're tough, but they're not invulnerable, and different species of tardigrade are good at withstanding different extreme environments. Many species can withstand incredible heat, but only for half an hour or less. Long-term temperature increases, even if only a little warmer than what it's used to, can cause the tardigrade to die. Most species of tardigrade eat plant material or bacteria, but a few eat smaller species of tardigrade. It has no lungs since it just absorbs air directly into its body by gas exchange. It has a teeny brain, teeny eyes, and teeny sensory bristles on its body. Its legs have no joints. Its tubular mouth contains tube-like structures called stylets that are secreted from glands on either side of the mouth. Every time the tardigrade molts its cuticle, or body covering, it loses the stylets too and has to regrow them. In some species, the only time the tardigrade poops is when it molts. The poop is left behind in the molted cuticle. The tardigrade's success is largely due to its ability to suspend its metabolism, during which time the water in its body is replaced with a type of protein that protects its cells from damage. It retracts its legs and rearranges its internal organs so it can curl up into a teeny barrel shape, at which point it's called a tun. It needs a moist environment, and if its environment dries out too much, the water bear will automatically go into this suspended state, called cryptobiosis. Tests in 2007 and 2011 that exposed tardigrades to outer space led to some speculation that tardigrades might actually be from outer space, and that they, or organisms that gave rise to them, might have hitched a ride on a comet or some other heavenly body and ended up on earth. But this isn't actually the case, since genetic studies show that tardigrades fit neatly into what we know of animal development and evolution. In other words,

About this episode: Since the mapping of the human genome in 2003, scientists have sought data from Indigenous and isolated populations. But often that research doesn't translate into better health care for the groups whose biological specimens informed it. In this episode: all about the Native Biodata Consortium, a research organization that collects, stores, and shares data from indigenous environments and communities. Guest: Joseph Yracheta, Pūrepecha, is a biomedical researcher and the executive director of the Native Biodata Consortium. Host: Dr. Josh Sharfstein is vice dean for public health practice and community engagement at the Johns Hopkins Bloomberg School of Public Health, a faculty member in health policy, a pediatrician, and former secretary of Maryland's Health Department. Show links and related content: Rapid Acceleration of Diagnostics (RADx)—The National Institutes of Health Native Americans Graves Protection and Repatriation Act—National Park Service Tribal Data Repository—Data for Indigenous Innovations, Interventions and Implementations Contact us: Have a question about something you heard? Looking for a transcript? Want to suggest a topic or guest? Contact us via email or visit our website. Follow us: @‌PublicHealthPod on Bluesky @‌JohnsHopkinsSPH on Instagram @‌JohnsHopkinsSPH on Facebook @‌PublicHealthOnCall on YouTube Here's our RSS feed

1/2: #BIOWEAPON. PRC suspect of weaponizing genomic research/technology acquired from America. Craig Singleton, FDD. 1940

2/2: #BIOWEAPON. PRC suspect of weaponizing genomic research/technology acquired from America. Craig Singleton, FDD. 1961

Preview: Colleague Craig Singleton (FDD) on Xi Jinping's Ambition to Harness Genomic Research for Potential PLA Weaponization. More Tonight. 1930

  Three years ago David Mittelman came on Unsupervised Learning to talk about emerging possibilities on the frontiers of genomics, and his new startup at the time, Othram. Since then, Othram's work has been featured widely in the media, including in a Law & Order episode, and the firm has solved thousands of unsolved cases, with nearly 500 public. For over a decade, Mittelman has been at the forefront of private-sector genomics research. He trained at Baylor College of Medicine and was previously faculty at Virginia Tech. Razib and Mittelman discuss the changes that the rapid pace of genomic technology has driven in the field of genetics, from the days a $3 billion dollar draft human genome in the year 2000 to readily available $200 consumer genomes in 2024. One consequence of this change has been genetics' transformation into information science, and the dual necessities of increased data storage and more powerful, incisive data analysis. Genomics made information acquisition and analysis so easy across the research community that it allowed for the pooling of results and discoveries in big databases. This has pulled genetics out of the basic science lab and allowed it to expand into an enterprise with a consumer dimension. Mittelman also discusses the improvements and advances in DNA extraction and analysis techniques that allow companies like his to now glean insights from decades-old samples, with bench sciences operating synergistically with computational biology. Razib and Mittelman talk about how he has helped solve hundreds of cold cases with new technology, in particular, at the intersection between new forensic techniques and both whole-genome sequencing and public genetic databases. They also discuss the future of genetics, and how it might touch our lives through healthcare and other domains, passing from inference to fields like genetic engineering  

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How do Vitamin D and genomic ancestry impact cancer cells? Dr. Moray J. Campbell, a research scientist at Cedars-Sinai Cancer, joins the podcast to explain… Dr. Campbell is a cancer biologist who studies the genomic and epigenomic drivers of hormone-dependent cancers. By utilizing high-dimensional data approaches and bioinformatic analyses, Dr. Campbell is on a mission to uncover the scientific mysteries of cancer. Jump into the conversation now to find out: How Vitamin D and genomic ancestry influences prostate cancer.  How prostate cancer cells bind to patients depending on their genetic makeup. How gene expression in prostate cancer works. Where people get most of their Vitamin D from.  Want to learn more about Dr. Campbell and his research? Click here now! Episode also available on Apple Podcasts: http://apple.co/30PvU9C