Personal Genomics Zone

Personal Genomics Zone

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Personal Genomics Zone episodes

  • Shining a Light on Discovery: A Conversation with VizBi Organizer Sean O’Donoghue

    Welcome back to the Personal Genomics Zone podcast, the show where we dive deep into the stories shaping the future of genomics and beyond. I’m your host, Manuel Corpas, and today we have a very special guest: Sean O’Donoghue, Organizer for VizBi—the VISUALIZING BIOLOGICAL DATA conference—coming to Cambridge University’s Magdalene College next week. Sean is at the forefront of bringing together scientists, designers, and technologists to reimagine how we see and interpret biological data.

    In this episode, we’ll explore what first sparked Sean’s passion for both science and art, uncover what motivates him to organize an international conference like VizBi, and learn about his vision for the future of biological visualization. We’ll also touch on why “vision” itself—both literal and metaphorical—matters so deeply in biology, influencing everything from groundbreaking research to the ways we collaborate across fields. Strap in for an inspiring conversation about the power of clear, compelling visuals in fueling scientific discovery—and the drive to help others see biology in a completely new light. Let’s get started!

    58 min
  • Genomics and Big Data: The Next Frontier in Precision Medicine

    By Dr. Manuel Corpas

    Introduction

    Good afternoon, everyone! Welcome to this exploration of genomics, big data, and how they’re reshaping the future of healthcare. As I record this on the last day of January 2025, it strikes me that today—this moment—will never come again. It’s a reminder that science and technology, like time, keep moving forward. My hope is that revisiting some fundamentals of genomics will help reinforce our collective understanding and passion for this ever-evolving field.

    Genome Medicine Lecture at University of Westminster
    Meet the Speaker

    I’m Dr. Manuel Corpas, a senior lecturer in genomics with over 20 years of experience. I hold a PhD from the University of Manchester and spent four years as a postdoctoral researcher at the University of Cambridge. For the past three and a half years, I’ve been part of the University of Westminster, where I delve into big data and genomics—both as a lecturer and through my own company, which assists clinics in leveraging genetic data to understand diseases and predispositions. If you’re keen on the intersection of data science and biology, feel free to get in touch; I’d be delighted to discuss projects or career options with you.

    Why Genomics Matters

    Genomics is transforming medicine by bringing us closer to precision medicine, sometimes referred to as personalized medicine. Rather than relying on a one-size-fits-all approach, clinicians can increasingly tailor treatments to an individual’s genetic makeup. The ultimate aim is to prescribe the right drug, in the right dose, at the right time—something that becomes more feasible as we learn how genetic variants affect metabolism, drug response, and disease risk.

    However, there’s a critical challenge: much of our understanding of genomics—and many commonly used treatments—derive from studies primarily focused on Northern European ancestries. This leaves other populations underrepresented in genomic research. It’s essential to include diverse genetic backgrounds if we want equitable healthcare for everyone, regardless of geographic location or socioeconomic status.

    From Rare Disorders to Complex Diseases

    My own work in the field began in 2008, analyzing next-generation sequencing data to diagnose rare genomic disorders. For instance, I’ve been part of a project that sequenced 13,000 children with rare disorders (and their parents), creating an informatics infrastructure that remains in use to this day. Although rare disorders (often called Mendelian or monogenic diseases) can be linked to a single gene, their cumulative impact is significant—and identifying the exact genetic cause offers immense value to families, clinicians, and researchers.

    Yet the real population-level burden comes from complex (polygenic) disorders, such as Type 2 diabetes, coronary artery disease, and many cancers. These conditions involve numerous genes and are also shaped by environmental factors like diet, exercise, and exposure to toxins. Genome-wide association studies (GWAS) help us identify which genetic variants (or SNPs, single nucleotide polymorphisms) correlate with higher risk. The result is a deeper understanding of how certain people develop certain diseases—and why individuals in the same environment can have dramatically different outcomes.

    The Data Explosion

    If you’ve ever used Google Maps, you’ll appreciate the power of having a reliable reference map. The Human Genome Project gave us an initial “map” of our DNA, but that was just the beginning. Sequencing a single human genome today generates about 200 gigabytes of data—exponentially more than we can manage in a simple spreadsheet. With large-scale projects now sequencing tens or hundreds of thousands of people, data storage and interpretation have become gargantuan tasks, often measured in petabytes.

    The good news is that the cost of genome sequencing has dropped even faster than computer processor power has increased under Moore’s Law. What cost billions of dollars 20 years ago can now be done for under $1,000, and it continues to get cheaper. This is ushering in a whole new era for precision medicine, but it also means we need more data scientists, bioinformaticians, and computational biologists to interpret the data flood.

    Equitable Access and Future Directions

    One of my biggest concerns—and greatest passions—is making sure the benefits of genomic medicine reach everybody. Cutting-edge tools and treatments need the right infrastructure, supply chains, and trained professionals. In many parts of the world, even basic healthcare resources are limited. How do we bring complex genomic diagnostics and personalized treatments to remote communities or regions with fewer technological resources?

    Despite these hurdles, progress continues. In the UK, we’ve seen initiatives like the 100,000 Genomes Project, followed by mass-scale efforts involving half a million genomes—some of the largest in the world. Soon, it’s likely that every newborn will have their genome sequenced. We’ll enter an era where everyone’s DNA is on record from day one, offering unprecedented opportunities for preventive healthcare and personalized treatment. The challenge then becomes interpreting all that data: distinguishing benign variants from dangerous ones, predicting how genetic backgrounds affect drug metabolism, and using AI-driven models to provide actionable insights.

    Computational Literacy: A Key to Tomorrow’s Jobs

    For those of you pursuing careers in life sciences, I can’t emphasize enough the importance of data literacy. Being comfortable with big data tools and computational methods gives you a tremendous advantage in this field. The future belongs to those who can navigate datasets too large for any single human to analyze by eye. Whether you’re interested in rare diseases, cancer genomics, or population-level studies, computational skills will open more doors than ever.

    Conclusion

    Genomics isn’t a magic crystal ball predicting who will inevitably develop a particular disease. But it offers powerful insights into probabilities, risk stratification, and targeted therapies. It helps us see how each patient’s DNA interacts with their environment. Most importantly, it pushes medicine to become more proactive and patient-centered.

    As the last day of January 2025 fades into history, I’m reminded that time stands still for no one—just as scientific progress keeps accelerating. By embracing genomics, data science, and a commitment to equitable healthcare, we can chart a path toward a future where “precision medicine” truly means medicine for everyone.

    Thank you for reading, and I hope this glimpse into the world of genomics inspires you to explore new questions and possibilities. If you’re passionate about big data, genetics, or the future of personalized healthcare, let’s keep the conversation going.

    Author Bio

    Dr. Manuel Corpas is a senior lecturer in genomics with over two decades of experience. He earned a PhD at the University of Manchester and served as a postdoctoral researcher at the University of Cambridge. Currently at the University of Westminster, he also leads a company dedicated to helping clinics harness genetic data for diagnosing rare diseases and assessing predispositions to more common health conditions. Dr. Corpas is committed to expanding equitable access to genomic medicine worldwide.

    1 hr 40 min
  • Building a Personal Agentic AI System: A Practitioner's Guide

    A detailed practitioner's guide to building personal agentic AI systems. Covers the technical stack, embedding pipelines, agent architecture, memory systems, mistakes made, real costs, and why sovereignty over your own AI matters. Built by one academic with a Mac Studio and an unwillingness to wait.

    17 min
  • The Age of Abundance: Key Ideas from Elon Musk on Moonshots Episode 220

    A distillation of the key ideas from a nearly three-hour conversation between Elon Musk, Peter Diamandis, and Dave Blundin at Tesla's Giga Texas, covering AGI timelines, AI safety through truth, curiosity and beauty, the white-collar displacement thesis, Universal High Income, energy as civilisational currency, humanoid robots, and the Mars imperative.

    18 min
  • The Case for Genomic Representation in Latin America

    Genomic research has made tremendous strides over the past decades, paving the way for breakthroughs in precision medicine. However, these advances have not benefited everyone equally. A glaring issue in this field is the systemic underrepresentation of certain populations, particularly indigenous groups from Latin America. In a recent talk at Queen Mary University of London’s PHURI, I had the opportunity to highlight the unique challenges and opportunities in addressing this disparity.

    The Problem of Underrepresentation in Genomics

    The global genomic research landscape has been dominated by studies focusing on populations of European ancestry. Leading repositories like PharmGKB—dedicated to gene-drug association data—exemplify this imbalance. While European and, to a lesser extent, Asian populations are reasonably represented, native populations from the Americas account for a minuscule fraction of the data. This disparity leaves indigenous communities underserved and their unique genetic profiles largely unexplored.

    A Journey Through Latin America’s Genetic Heritage

    To understand why this underrepresentation matters, it’s essential to delve into the historical and geographical context of Latin America.

    • Ancient Origins: The ancestors of indigenous populations arrived in the Americas around 23,000 years ago, crossing from East Asia via the Bering Strait. By 12,000 years ago, they had spread across the continent, with distinct groups establishing themselves in the Andes, Amazon, and coastal regions of South America.
    • Geographical Influence: Peru’s diverse landscapes—ranging from high-altitude Andes to the Amazon rainforest—have significantly shaped these populations. Today, around 30% of Peru’s population lives at altitudes exceeding 2,500 meters, showcasing adaptations to unique environmental pressures.
    • Impact of Colonization: The Spanish conquest in the 16th century had devastating effects, reducing the indigenous population by 90% within 40 years due to diseases like smallpox and tuberculosis. Despite this, regions like Bolivia and Peru still host some of the highest concentrations of native populations.
    • Discovering Untapped Genetic Diversity

      Our research seeks to bridge the gap in genomic representation by focusing on Peru’s indigenous communities. Through the analysis of 150 genomes from seven populations, we uncovered exciting findings:

      • Novel Variants: Around 13% of the genetic variants identified were previously unknown, underscoring the vast untapped diversity in these populations.
      • Population Structure: Isolated groups such as the Matsés (Amazon rainforest) and Uros (Lake Titicaca) exhibited low genetic diversity, likely due to historical bottlenecks. In contrast, urban populations with European admixture showed greater diversity.
      • Unique Mutational Profiles: High-impact mutations—those likely to affect gene function—were identified in certain populations, with many absent from global databases. These findings highlight the potential for groundbreaking discoveries in areas like disease susceptibility and drug response.
      • A Call for Regional Collaboration

        One of the biggest challenges in advancing genomic research in Latin America is the lack of a coordinated framework. Unlike Africa, which has the H3Africa initiative—a Pan-African genomics consortium that secures international funding and fosters local research—Latin America lacks a similar structure. This limits the region’s ability to scale research efforts and fully capture its rich genetic diversity.

        What could such an initiative achieve?

        1. Federation of Data: Integration of genomic data across Latin American countries to enable large-scale studies.
        2. Capacity Building: Empowering local scientists and researchers with funding and resources.
        3. Global Comparisons: Creating interoperable systems to compare Latin American data with those from Africa, Oceania, and other underrepresented regions.
        4. The Role of Equitable Partnerships

          Collaboration with pharmaceutical companies can play a critical role in achieving these goals. In some regions, such partnerships are structured to ensure mutual benefit: companies gain access to valuable genetic data while investing in local research infrastructure. A similar model could be applied in Latin America, ensuring that profits from drug discoveries benefit the communities contributing their data.

          Why Representation Matters

          The underrepresentation of indigenous populations in genomic research isn’t just an academic issue—it’s a question of equity and global health. Precision medicine aims to tailor treatments to the genetic makeup of individuals, but this cannot be achieved if vast swathes of humanity are left out of the equation. Indigenous communities in Latin America face unique health challenges, and understanding their genetic profiles could lead to breakthroughs in addressing these needs.

          Looking Ahead

          The genomic research community is at a pivotal moment. Awareness of the need for diversity in research has grown, creating a window of opportunity to correct historical imbalances. Latin America, with its rich and underexplored genetic heritage, is uniquely positioned to contribute to this effort.

          By building a federated, inclusive approach to genomics, we can unlock the potential of indigenous populations—not only for their benefit but for the advancement of global health. The journey ahead is challenging, but the rewards promise to transform our understanding of humanity’s shared genetic legacy.

          42 min
        5. Unlocking the Future of Genomics Education

          Here I provide some highlights of the visionary presentation that Jason Williams, Assistant Director, External Collaborations for the DNA Learning Center, Cold Spring Harbor Laboratory, gave at his invited talk at the University of Westminster on Friday 22nd, November 2024.

          As technologies like genomics and machine learning redefine how we understand and interact with the world, Jason Williams, a leader in science education and training, recently shared his insights on making cutting-edge science accessible to underserved communities. Here’s a look at some key themes from his presentation, which you can also watch in the YouTube video below or listen in my podcast.

          Williams emphasised the importance of empowering disadvantaged communities with scientific knowledge and tools. At the DNA Learning Center at Cold Spring Harbor Laboratory, where he works, students from diverse backgrounds are introduced to molecular biology and genomics through hands-on experiments. From transforming bacteria to sequencing DNA, these programmes aim to inspire students and provide them with skills that are often inaccessible in traditional school systems.

          Impact in Numbers:

          • Over half a million students interact with materials developed by the centre each year.
          • Special programmes mentor minority and disadvantaged students, supporting their college applications and helping them pursue careers in STEM.
          • One of the most exciting innovations discussed was Oxford Nanopore sequencing, which allows real-time DNA analysis using a handheld device. This technology has dramatically lowered the cost and expertise barriers for genomic research, enabling high school students to sequence genomes within a week.

            Some fascinating applications:

            • Environmental Studies: Students sequenced chloroplasts from plants and soil samples.
            • Consumer Advocacy: A high school team discovered that medicinal supplements labelled as “Ginkgo biloba” contained no ginkgo DNA but were primarily rice—prompting action from authorities.
            • Williams highlighted a growing challenge: as biology becomes increasingly data-driven, traditional curricula struggle to keep pace. He advocates for integrating computational skills like Python programming and machine learning into biology education. However, he also recognises the need for simplicity, suggesting tools and workflows that allow students and educators to focus on discovery rather than coding complexity.

              Equity in genomics isn’t just about affordability—it’s also about ensuring diverse voices and populations are included in research. Williams pointed to efforts like the Native American Biobank and initiatives in Nigeria and Puerto Rico, which aim to decentralise genomic research. By training local scientists and empowering them with tools like nanopore sequencers, these efforts combat the exploitative practices of “helicopter science,” where external researchers extract data without local involvement.

              To scale these efforts, Williams and his team have developed innovative training programmes for educators:

              • Short Workshops: Designed to introduce cutting-edge technologies like nanopore sequencing to teachers in just a few days.
              • Community Building: Networks of trained educators share resources, ensuring that knowledge spreads and grows.
              • Principled Approaches: The “Bicycle Principles” paper outlines best practices for effective short-term training, including building assessment mechanisms to ensure real learning.
              • Williams underscored the importance of community science in fostering trust and interest in STEM. Initiatives like public roundtables and interviews with scientists (e.g., with the first Crispr-treated sickle cell patient) create meaningful conversations that demystify science and make it relevant to everyday life. These efforts empower students to be ambassadors of science in their communities.

                One of Williams’ most ambitious projects is a new STEM education and research centre in Puerto Rico. Located on the site of the iconic Arecibo Observatory, this facility will house state-of-the-art labs and community programmes, blending traditional science with cutting-edge genomics and computation. It’s a step towards making advanced scientific education a global reality.

                Final Thoughts: A Vision for Inclusive STEM

                Jason Williams’ talk was a rallying cry for making science accessible, equitable, and exciting. By combining cutting-edge tools with an emphasis on hands-on learning, he’s helping to train the next generation of scientists while addressing disparities in education and research. His work is a powerful reminder that science isn’t just for the elite—it’s for everyone, everywhere.

                1 hr 4 min
              • My Journey with Social Responsibility and Diversity, Festival of Genomics, 2025

                Originally published by Frontline Genomics, the parent organisation of the Festival of Genomics and Biodata 2025.

                In this interview, I share my thoughts on the importance of social responsibility and diversity in genomics, a field that has the power to impact lives across the globe. Here I talk about my journey in genomics, my commitment to making research more inclusive, and my recent experience working with communities in the Amazon to ensure their voices are represented in our data. I’m excited to give you a sneak peek of what I’ll be discussing at the Festival of Genomics and Biodata 2025, where I’ll dive deeper into how we can make genomics work for everyone. #Genomics #Biodata #FOG2025 #DiversityInScience #ScienceForAll

                FLG: Hi everybody. Today, we’re joined by Manuel Corpas from the University of Westminster, who will be joining us at The Festival of Genomics and Biodata in London in January. We’re really pleased to get some time with you today. For the benefit of our audience, would you be able to tell us a little bit about yourself and your career?

                Manuel: Well, I’m obsessed with genomes. I’ve been obsessed at least since 2008 when, as a postdoc, I joined the Sanger Institute to help develop Decipher,  one of the leading resources for rare genetic disease diagnosis. This formed the basis of a posterior project called DDD, Deciphering Developmental Diseases. This project sequenced 13,000 babies and children from the UK and Ireland in search for rare genomic disorders. It’s been one of the flagship projects from around the world in terms of our understanding of rare genomic disorders. After that, I started my own company called Cambridge Precision Medicine, which is part of the Cambridge University ecosystem. Then during the COVID pandemic, my wife said that she wanted to come closer to her family, so I moved to London and now I’m a Senior Lecturer in Genomics at the University of Westminster. I still have a kind of consultant role with Cambridge Precision Medicine, and I’m involved in a number of outreach projects from all over the world.

                FLG: Sounds like you’ve had a really varied career. What initially sparked your interest in genomics, and bioinformatics in particular? You mentioned that you’ve been obsessed with it for a long time, but what triggered that for you?

                Manuel: I did my PhD in bioinformatics at the University of Manchester. It was around classification of protein sequences, very much bioinformatics based, but I felt that the really exciting things were happening on the genomics side. Then I changed gears from proteomics into genomics in around 2008, when the first next generation sequencing technologies became available, and the first genomes sequenced became available. So, I made that transformation from array-based genotyping, into whole genome sequencing.

                I also embarked on a series of crazy projects. I actually sequenced my genome and the genome of my family. I put it on the internet; it was probably the first family that made their whole genomes freely available for anyone to download. That sparked a publication on crowdsourcing the genomes of my family and trying to see the state of the art, because I’ve always been passionate about – the question that I’ve always had, I still have – to what extent do genomes actually inform our life choices, and how we can use this data to help us have better health.

                At the time, when I was working at the Sanger Institute, which was pioneering their applications for patients, I could see how [it was] complicated, how much the clinicians and doctors struggled, and it was so bioinformatics based. I was passionate about trying to make sense of these big data sets. Then, that interest evolved into the Personal Genomes Project. After that,  I became obsessed with how we bring all of these benefits that we Europeans are enjoying to the huge amounts of people from around the world who – because of maybe lack of infrastructure, or lack of the appropriate financing – are not benefiting from genomics. I’m now building an international research network around Latin American diversity genomes.

                FLG: It certainly seems like the last couple of decades, at least, have  been quite an exciting time to be involved in these fields. They’re adapting so quickly. But it doesn’t seem to necessarily translate into the clinic as quickly, and as you say, especially for non-European populations. So, how do you think we can go about bridging that gap between the research and the clinic, and how can the average researcher, in their day-to-day role, play a part in that?

                Manuel: Obviously this is a very complex question, but I think that it’s taking its time, in a way, because we weren’t completely cognizant as to how complex this information was going to be, and how the different mechanisms that regulate heredity are incredibly convoluted. So, it’s that on one hand. On the other hand, I think it’s also access to technology. I mean, it’s not exactly cheap to sequence your genome. We saw that the prices dipped significantly in the late 2000s, but then that cost has kind of plateaued. I think that’s going to change very, very quickly now, and there are a number of contenders – some of them are actually exhibitors at The Festival of Genomics.

                Then also, obviously, there’s the promise of long read. And some of the technologies are now able to produce, for the same price as you would do a whole genome, the methylation aspect. Looking at it from the inside, things have changed dramatically. When I did my first exome, which was around 2011, doing it from saliva was completely unheard of, and now this is kind of routine. That’s on the one hand, but I also have to say that I feel very lucky having been based in the UK, because it’s incredible how this genomic revolution has been led from here. You feel like you are really at the epicenter of where things are happening, with some incredible research, but also the companies around here. So overall, I also see new opportunities that are developing, a huge number of new roles and companies and so I have a huge number of expectations. It feels really, really exciting to be here and working in this field.

                FLG: I think, of course, the scientific community has to be very involved in this shift from using European data sets to using more diverse data, and ensuring that the benefits are felt by everybody. But, of course, it’s not just the scientists involved in this. There are policymakers involved as well. How do you think that scientists and policymakers could work together to ensure that the benefits of this research can translate into better healthcare for people?

                Manuel: I think from the scientific point of view, we have a tremendous responsibility. I’m going to say something that may sound a little bit controversial; I think we scientists can’t assume that our work is going to be trusted. We are in a new world – the world of social media and fake news – and there’s a huge amount of work on our part in terms of communicating transparently and making sure that we follow the utmost rigorous processes, ethical processes, in a transparent way, where we really are able to share with the public the benefits of our research. That’s one of the determinant ways of thinking in my own research. I can’t trust that people are going to necessarily trust what I’m doing. I need to earn their trust. So, that’s the very first thing.

                Secondly, I think that we need to be aware of historical practices of exploitation, of genetic colonialism. We now live in the George Floyd world, where there have been critical acknowledgements of abuses in the past, and we have to be particularly sensitive about making sure that the values of equity, diversity and inclusion are, in my view, at the top. And at least in my research, these equity, diversity and inclusion efforts have been at the absolute top.

                Then the other thing that I want to highlight is respect for different cultures, for different ways of interpreting science. Sometimes, because we are based here in the West, we think that our way is the way of doing things. And actually it’s not, not necessarily. So, I think there’s a lot of work to do on our part in terms of engagement with patients, but also with the communities that we want to serve. Not just from the point of view of paternalistic dialogue, it’s actually an engagement where we have a commitment, not just to make sure that we do the research, but also that we share the benefits and that what we are doing is truly relevant, not just for the few, but for the many. This is something that I personally take very seriously. And I think this is the flagship of where we need to look, in terms of spreading and making genomics more accessible to people from around the world.

                FLG: I think that’s all really important. It’s something we should all take seriously. I do think it can almost be easy in the scientific world to fall into that trap of assuming that you’re the expert in the room, when often it’s a patient or somebody from another culture who does things differently, and that doesn’t mean they’re doing things wrong. It can be very easy to fall into that trap of thinking you know best. So, it’s really important that people take all of that on board.

                And the point around trust is a really important one. Do you think that the COVID pandemic helped or hindered that trust? Because I think it differs depending on who you ask, in terms of whether the public believe the science or not.

                Manuel: I think it has hindered it but, of course, I have no data to support this. This is just my own gut feeling. For example, President Trump talking about putting detergent in his veins to cure the disease. Although, I’m not blaming him, because at the end of the day, it’s just a reflection of his constituency. And there are millions of people that think that way. I think they have very valid reasons to think that way, because they don’t see the benefit of the taxpayer money that is being spent, and they also are exposed to fake news, and we live kind of in turmoil where we don’t really know who’s telling the truth. So, I think the issues, in terms of how to spread the benefits of genomics, I don’t think they are technical anymore. I think they are social and ethical. We really need to think more about how we’re going to serve the people we are intending to help. There’s a lot of outreach that, in my view, we should think about whenever we develop these new initiatives.

                FLG: Something that I wanted to talk to you about was your upcoming expedition to the Amazon, which sounds really exciting, and I’m going to give you the floor to tell our audience about your trip.

                Manuel: Thank you for the opportunity. So, this has to do with the fact that we live in a world where about 80 to 90% of all data in genomics is based on European data. Of course, this hasn’t been actively pursued. You know, the research was developed in the West, and most people in the West are white, rich people. But it is clearly biased, and it clearly now has become a hindrance for this field to really flourish and develop. There have been a number of great initiatives in Africa. For example, H3 Africa, which, with the Wellcome Trust and the NIH, is developing a network of human heredity and health with strong emphasis on genomics. This platform has been incredibly useful as a way to distribute international funding and build capability in different countries across Africa. There are funds that are for projects and for scientists who are local, so scientists from Africa can develop their own local ideas, right? So, it’s not the West imposing their values, but it’s actually the local people working on the problems that they care about. And collaborators are the same on the same level; not looking over their shoulders, but actually we’re equal here. That has worked really well for the development of not only capability, but also huge training opportunities. And we have advanced quite a lot in our understanding of African genomes, which is the most diverse set of populations from around the world.

                But I haven’t seen that in Latin America. And Latin America has 800 million people, so it’s about 10% of the global population. Their representation in existing genome wide association studies and pharmacogenomics data sets, if I remember correctly, it’s around 1%, or less than 1%, so they are significantly underrepresented in our understanding. And yet we know that it’s one of the most diverse areas from around the world in terms of different populations. You have the Andes, the coast, which is desert, really. If you’ve ever been to Peru, it’s like being on the moon. But then you go over the Andes, and you have Titicaca Lake, 3,500 meters high. You have populations there, like the Uros, which is one of the populations I’m studying, where they live on floating islands. And when we look at their gut, we see that they have like 10 or 15 different parasites living with them. And when you give them antibiotics to try to cure them, they get sick.

                So, the purpose of this Amazon trip is really to look at some of the tribes and some of the communities that, as of today, have been isolated for millennia. There is a crucial window of opportunity that we have, because we think that in the next 30 to 40 years these communities won’t exist anymore, because they will have come into contact with the rest of the world, and they’ll basically emigrate in and then they get admixed. So, we have a very limited window of opportunity. And yet, through our collaboration with the Peruvian Genome Project – which I’m now part of, I’m now a Principal Investigator (PI) for this project – the idea is that we want to engage with these communities. So, it’s going to be a way to really look at the specific genetic traits that have enabled these communities to survive and thrive in the Amazon. We hope to understand these adaptations, so that we can translate them into precision medicine strategies tailored to their specific needs, so that we could apply them to other populations with similar genetic traits.

                It’s also about this idea that the current global genomics datasets are tremendously skewed towards European populations. We want to be able to not just do the data collection but also engage with these communities. We want to learn about their traditions. We want to ensure that their voices are heard in the global conversations about genomics. We want to work closely with community leaders to ensure that our research is conducted ethically and respectfully, with the goal of creating collaborative partnerships that benefit everyone involved. The idea really is to focus on the underrepresented populations from Latin America, for which, as I said, there’s nothing like H3 Africa. I know, for example, the Bill Gates Foundation, they’ve wanted to invest money there, but they don’t have any trusted international organization.

                The other thing is that there’s no network. You have the Peruvian Genome Project, you have the Mexican Genome Project, and Colombia is also doing quite a lot of work, but the opportunity to be able to synchronise and coordinate would allow these projects to have a much greater impact. Because if we have the appropriate infrastructure in place that allows safe sharing of data, we could have greater numbers and greater statistics to develop better science.

                We’re going to go with a camera crew, and right now, I’m in the middle of getting all my injections, my vaccines, because we’re going to be in places that you either access by helicopter or by river, there are no roads, so it’s going to be, I guess, a discovery expedition of the 21st century! Obviously, it would never be like what Charles Darwin did, but it’s going to be the tiny little approximation from a Spaniard trying to do something within his humble means.

                FLG: Well, it certainly sounds like you’re very dedicated to the cause, because it sounds amazing what you’re going to do, it’s so important. And it could transform the genomics landscape for these communities. I applaud you for going out there and doing this. It will be really exciting.

                Manuel: I genuinely believe that The Festival of Genomics will be a great platform for me to be able to disseminate and tell the world about this research, because there’s no point in me doing these things if I’m not able to tell the people about these opportunities.

                I think also, there have been a number of Latin American efforts. I can think, for example, of what Carlos Bustamante recently announced with Illumina, where they said that with their new company, they were going to sequence 10 million Latin Americans. We can’t compete in terms of the numbers, but we can compete in terms of the diversity, because already, with about 1,000 genomes that we’ve been able to collect, we have around 30 different populations spread across the Amazon, the Andes, the coast. So, I think it’s not just a question of the numbers, it’s also a question of the diversity, and that’s really what we are trying to do to differentiate ourselves. And I think we can do it, because obviously this is the work of my collaborator, Heinner Guio, who is Peruvian, and he’s located in Lima. He’s been working for more than a decade with the Ministry of Health and the local authorities, then talking with the community leaders. We’re actually going to need translators for some of these communities, because they don’t speak Spanish.

                I think this journey coming up, it’s as much a cry for attention to try to open eyes to a severely underserved continent, and hopefully make genomics richer, more diverse, more inclusive, and really achieve the promises that the Human Genome Project made 25 years ago, which is to improve health and make the genome the legacy of humanity, and not just for a few. I don’t think there are many fields, scientific fields, that can have the luxury of saying these things. That’s why I feel completely privileged, and that’s why this is probably one of the most exciting times in my whole scientific career.

                FLG: Yeah, that certainly sounds exciting. And it’s not long now until you head off, so you must be very busy getting prepared for it!

                Your point around communicating that research, and the Festival, for example, being a good platform for it, is so vital, because I think it can be very easy, especially in the West, to see research that’s going on, and think, ‘oh, genomics and other areas of research, they’re taking off. It’s translating into the clinic.’ And it’s really easy to forget that for a lot of populations, that isn’t the case, and without work like this, it won’t be the case. It’s really crucial to have some kind of platform and have people like yourself who are going out and spreading that word and sharing what you’re doing.

                That leads me on to a question about the Festival. You’re speaking in January at the event, what was it that drew you to the Festival, and enticed you to agree to speak. What are you looking forward to about the event?

                Manuel: I’ve attended pretty much every Festival, and I’ve already spoken in the past. For me, the Festival of Genomics and Biodata is really a flagship event for the year. As a genomicist, I need to be there. It was a no brainer. And I’m really grateful, to be honest, that I have this opportunity because, as I say, it’s probably the leading event in genomics, at least on this side of the Atlantic. It’s a no brainer for me. It has a huge amount of exhibitors, so it’s not just about learning science. It’s also a meeting point for colleagues I’ve known for decades now, and for building new collaborations, understanding and developing potential new projects. I will certainly be on the lookout for what technologies are being advertised, what vendors there are, what they have to offer. I have had the opportunity to meet people and speak directly with them and build collaborations at a global level more quickly. So, I don’t think it was a difficult decision to make, to be honest!

                FLG: That’s lovely to hear, and I’m glad to hear that you’ve enjoyed yourself when you’ve attended previously! Something that we really care about at the Festival is the fact that we can offer these things for free, so that we can try and foster that experience for people – the collaboration, the networking and the learning. How do you think that events like this can help with that growth for people?

                Manuel: I should have said that! What this is contributing to the growth of the community is untold. Because it’s a great incentive, you know? I don’t know of any other type of event like that, where it’s for free, and of course, it’s a huge incentive for people to be able to attend. Not just the people who can afford it, but also the academics, the students, the researchers. So, I can only applaud that gesture, which is really a tremendous boost for building the community around London, around the UK and around this side of the Atlantic. I’m very thankful for that and I want to say thank you to you guys, and to Richard especially.

                FLG: I think, really, we would want to thank you for coming along. Without speakers, exhibitors and attendees, it wouldn’t exist. So, it’s a big thank you to you as well. You’ve already given us some insights into it, but what do you think the audience will gain from coming along and hearing your talk?

                Manuel: My talk specifically, or everyone’s?

                FLG: I mean, both, if you have any insights there!

                Manuel: The first thing, whenever I go to the Festival of Genomics, is you suddenly immerse yourself in the genomics bubble. It’s almost like going into this kind of haven, a genomics haven, where, at last, you know you are not the only one. You see so many people from all over the world thinking like you and being really keen to share information, learning from each other, building relationships and really having a good time, you know? That’s on the one hand. Then secondly, I also find many like-minded people who are obsessed with the same questions that I’m obsessed with, and that sense of community is, for me, one of the greatest things that I can get out of the event.

                And then also, obviously, you get to learn things that you didn’t expect. You build new relationships. And, of course, you have a lovely time. I think I might have shared with your colleague one of the videos that I took from the past Festival of Genomics, and it’s just so vibrant. You get this feeling of being part of it. For me as a genomicist, that is completely invaluable.

                More specifically about what I’m going to present, it’s obviously the fact that we will be presenting, for the first time, data and results from populations that have never been studied before. Combining it with the setting of the Amazon jungle, I think that’s quite different. And of course, the strong message that I will be giving about equity, diversity and inclusion, the respect for these cultures. Me being someone coming from Europe, I take particular care to make sure that whenever I speak, I’m always going to talk about a number of things, and respect for peoples and traditions. Then, the acknowledgement of their cultural significance, their heritage and their civilization. I strive to honour their legacy and ensure that my research upholds the dignity and respect owed to the descendants of the Inca Empire and any kind of indigenous population. And then there’s the fact that I will be condemning genetic colonialism, which I unequivocally condemn, and I’m dedicated to ensuring that the benefits of research will be shared equitably with the communities involved.

                FLG: I think that’s all really important, and I’m really excited to see the results of the work and hear your talk in London. A final question – what advice would you give to a young researcher wanting to follow in your footsteps, and who wants to address these issues in their work?

                Manuel: Don’t be ashamed of asking people. Approach anyone that you admire, talk to them, ask them questions, read their work, introduce yourself. This is your opportunity for networking, building the social aspect of research. There’s this sort of thinking that researchers are isolated, looking at their experiments, very individualistic. That’s completely the wrong vision of what science is. Our science is incredibly interdisciplinary, multi-dimensional, multi-collaborative, and you need to be able to show them how keen you are. Show initiative, that you’re not going to repress yourself, you’re not going to be shy. You really need to sell yourself if you want to succeed. It’s as much about marketing your own skills, your own research. Talk about your research. Don’t worry about people stealing your ideas. Nobody’s going to do exactly the same thing as you are doing.

                Make sure that you don’t neglect the social component of science. The Festival of Genomics and Biodata is a place where you will have the opportunity to build those soft skills, which are, as I say, as important as the science and technology itself. Because without those contacts, without the ability to be able to interact with the people who are actually developing the field, you’re going to be severely handicapped. That’s why I think the Festival of Genomics, having this concentration of the best genomic science in the world, is such an incredible opportunity. It’s just a shame that I can’t attend all of the different tracks and talk to everyone I want to talk to! You know, we need to think about some kind of technology to make sure that we don’t miss everyone we want to talk to, or something! But anyway, I think it’s as good as it gets for me, at least here in the UK.

                FLG: Thank you so much, and we’re really excited to have you in January. And I think that I can speak for everybody who’s listening to this interview when I say that your work sounds really exciting, and we can’t wait to hear what comes out of your expedition! Thank you again, and we’ll see you in January.

                40 min
              • Interview: First Impressions of the Initial Trip to Indigenous Communities in Peru

                In this insightful interview (in Spanish), journalist Alejandro Sacristán sits down with Dr. Heinner Guio and Dr. Manuel Corpas to discuss their first impressions after visiting indigenous communities such as the Boras in the Amazon and the Capiuros near Lake Titicaca.

                The researchers share stories from their time in the field, highlighting how climate change is affecting these communities and the uncertain future they face. They also reflect on the need for social justice, emphasizing how this expedition aims to pave the way for indigenous communities to access precision medicine tailored to their unique needs.

                Don’t miss this inspiring video! Watch now to learn more about this groundbreaking journey to uncover the genetic legacy of lost indigenous communities in Latin America.

                YouTube Interview “First Impressions of the Initial Trip to Indigenous Communities in Peru”

                Note: The interview is in Spanish.

                #PrecisionMedicine #IndigenousCommunities #ClimateChange #SocialJustice #Genomics #Peru

                46 min
              • 🌍🎙️ New Interview: Exploring the Genetic Secrets of Latin American Indigenous Communities

                I’m excited to share a new interview where we dive deep into a pioneering scientific mission focused on uncovering the unique genetic traits of Latin American indigenous populations. Led by myself and Dr Guio, this research aims to understand the hereditary secrets of indigenous communities and explore how they can be applied in precision medicine.

                The interview is conducted in Spanish, and you can watch the full video on YouTube or listen to the podcast version, both now available!

                YouTube Video

                Don’t miss this fascinating discussion where we blend science, culture, and the future of healthcare.

                #Genomics #IndigenousCommunities #PrecisionMedicine #LatinAmericanScience #GeneticResearch #Podcast #YouTube

                14 min

              About Personal Genomics Zone

              From the publisher's feed

              AI agents, genomic equity, and the future of bioinformatics. Dr. Manuel Corpas explores agentic genomics, autonomous pipelines, health equity metrics, and building inclusive research infrastructure…