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Behind the Genes

Behind the Genes

Di: Genomics England
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At Genomics England, our vision is a world where everyone benefits from genomic healthcare.

From the latest research to the lived experiences of those affected by rare conditions and cancer, Behind the Genes brings you closer to the people behind the science.

Each month, we release a deep-dive episode, alongside our Genomics 101 series - short explainers designed to make complex terms in genetics and genomics easier to understand.

Copyright 2021 All rights reserved. Scienza Scienze biologiche Scienze sociali
Episodi
  • Can we change the rules of medicine?

    Can we change the rules of medicine?
    Oct 27 2026
    Advances in genomics are making it possible to develop treatments for individual patients with rare genetic conditions. But how can we get these treatments to the people who need them when traditional medicine development is designed for much larger groups of patients? In this episode, our guests explore the challenges of developing and approving personalised medicines, and how researchers, regulators and patient advocates can work together to bridge the gap between scientific advances and patient access. Our host Sharon Jones is joined by: Dr Dan O’Connor, Executive Director Regulatory, Association of the British Pharmaceutical Industry (ABPI) Julia Vitarello, founder and CEO of Mila’s Miracles Foundation Professor Rich Scott, CEO of Genomics England If you enjoyed today’s conversation, please like and share wherever you listen to your podcasts. “The technology's there, and it's now just saying, "Well, actually, can the system catch up?" And that's really the clear message I think we have to do. We've got to somehow align with the fast-evolving opportunities that new technology will offer us, and ensure that patients get the medicines they really need.” You can download the transcript, or read it below. Sharon Jones: Hello and welcome to Behind the Genes, the podcast that brings you the stories, research, and innovations shaping the future of genomic healthcare. For decades, medicines have been developed and tested for large groups of people, but advances in genomics are opening up new possibilities, including treatments tailored to an individual's genetic condition. So how do you adapt a system built for thousands of patients when there may only be a handful of people in the world who could benefit from a particular treatment? [00:00:30] Today, we're exploring how researchers, regulators, and patient advocates are working together to rethink the way new medicines are developed and approved. I'm Sharon Jones, and joining me today are Dr. Dan O'Connor, executive director regulatory, the Association of the British Pharmaceutical Industry; Julia Vitarello, Mila's mum, and founder and CEO of Mila's Miracles Foundation; and Professor Rich Scott , CEO of Genomics England. [00:01:00] By the way, you're going to hear a powerful story from Julia about her daughter, Mila. Sharon Jones: If you want to hear it in full, the episode is called Mila to Millions, and you can find it in the episode description. Julia, I'd like to start with you. You've shared your story with us on the podcast before, but for listeners who may not know it, can you briefly explain what's brought you here today? Julia: Yeah. Thank you, Sharon. [00:01:30] My daughter, Mila was born completely typical and was running around and hiking and singing and playing like other children until she was six when she was diagnosed with 100% fatal rare genetic disease called Batten Disease. And I was told in just one minute that my daughter would lose all of her abilities and die in the next few years. As you can imagine, my life in many ways ended in that moment. All my hopes and dreams of my daughter just were erased in one minute to the next. [00:02:00] But I saw her fighting. I saw her lose her vision. I saw her lose her ability to eat by mouth and have a G-tube put in and start having up to 30 seizures a day, and she was still smiling and laughing. And I just said, "You know, if she can fight, I can fight." And I started a foundation and raced against time alongside Boston Children's Hospital and Dr. Timothy Yu. And in a very miraculous, Herculean effort to save my daughter's life, we moved to Boston one year later, and my daughter started receiving a medicine called Milasen that was named after her. And the reason it was named after her is because while her condition was already very small with only 25 children in the world at the time, she was the only one that shared that specific mutation and the only one that could benefit from that medicine. And at that time, my daughter then became the first person in the world to receive a medicine for one person. It stopped her disease for the first year, um, but it wasn't in time for her. When she was 10, she died. [00:03:00] And the reason that I am still here is because my daughter showed what was possible, that we now have the incredible science and technology to be able to find the root cause of disease, often a single mutation, and design a medicine, even if it's unique to one person. And so I have been on a mission here to try to figure out how to help the millions of other families like mine in need. Sharon Jones: Julia, thank you for sharing that. I mean, you know, it's a difficult listen and, you know, thank you for kind of going through what you've been through for, you know, numerous times on this podcast and sharing with listeners how, how hard that was. Milia's story is incredibly powerful, and what really comes through is how much you fought to find answers. ...
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    30 min
  • How do we keep medicines safe and working properly?

    How do we keep medicines safe and working properly?
    Oct 14 2026
    In this explainer episode, Rachel Brucoli, Deputy Director at the Medicines and Healthcare products Regulatory Agency, explains how we make sure that medicines stay safe and work properly. You can also find a series of short videos explaining some of the common terms you might encounter about genomics on our YouTube channel. If you’ve got any questions, or have any other topics you’d like us to explain, let us know on podcast@genomicsengland.co.uk. Read more about the MHRA via their website. You can download the transcript or read it below. Florence: How do we make sure that our medicines stay safe and work properly? My name is Florence Cornish, and today I'm joined by Rachel Brucoli, who is a Deputy Director at the Healthcare products Regulatory Agency, also known as the MHRA. And Rachel is here to tell us much more about the topic Well, firstly, Rachel, thank you so much for joining us today. It's great to have you on. Rachel: Thank you. Nice to be here. Florence: The first question I wanted to ask you is quite a big question and I guess the crux of this entire episode really. Um, but how do we ensure that medicines are safe and work properly before they get to patients? Rachel: Yeah, it's an important question, isn't it? So in the UK, medicines are regulated by the Medicines and Healthcare Products Regulatory Agency or MHRA for short. And that's to ensure they, they are safe, they work correctly in a specified disease, and they're made to a high standard before they reach the public. In line with the relevant law, which is the Human Medicines Regulation, before a medicine is allowed to be placed on the market in the UK, the MHRA reviews safety information from clinical trials to ensure that the medicine does not cause unexpected or unacceptable effects. We also review efficacy data from clinical trials to make sure that the medicine works in the disease or condition and in the patient population that the manufacturer claims it does. Um, another important aspect that's reviewed is how the medicine's manufactured. It's very important that the medicine is made consistently and that every batch meets agreed specifications. Florence: And so you used that word regulation a few times. When we say that medicines are regulated, how do we do that? What does that process actually look like? Rachel: Yeah. So different countries have different laws that govern how medicines are regulated. And as I mentioned before, in the UK, the relevant legislation is the Human Medicines Regulations. In addition, different countries have different pathways or procedures for licensing of medicines, but it's worth noting that the types of data looked at by regulators is similar, and we've got harmonised standards in, in many respects. In the UK, different types of application can be submitted depending on the type of medicine under review. So for example, the data submitted for a brand-new medicine containing a new active substance that hasn't been approved in the UK would differ from that submitted for a generic medicine. The licensing process is triggered when a marketing authorisation application is submitted to the MHRA by a pharmaceutical company or a biotech company. And for new medicines, this application contains a significant amount of data that's been generated over, um, a large number of years. Florence: Mm-hmm. Can you tell us a little bit more about that? What types of information are submitted to you in this process? Rachel: Yes. So there's three main types of information that, that we receive. Um, the first is quality data, and that provides evidence that the medicinal product can be made safely, reliably, and to a high standard. It describes what the medicine's made of, how it's made, and provides evidence that the medicine can be produced consistently. The second body of data contains the results of the non-clinical studies, and there they characterize the pharmacology, and the safety profiles of the active ingredient of the medicine. And the third section of the application is the results and analyses of all the clinical studies conducted with the proposed medicine. These clinical studies will have been conducted in phases, and they're designed to determine the optimal dose of the medicine needed to treat the specific disease and to provide evidence that the medicine works, or as we would say, is efficacious, and that's usually compared to placebo. So, what's being measured in clinical studies are clinical endpoints, and they are specific outcomes or events that are measured to determine if a new treatment works. So, I guess giving an example of that is a cancer medicine, um, where a relevant endpoint that could be measured might include overall, an increase in overall survival or a reduction in tumour size. Additionally, some other important, outcomes could be patient-reported, such as effects on quality of life. So these clinical data will be analysed using appropriate statistical methods, and then ...
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    12 min
  • How are we serving Black communities in health research?

    How are we serving Black communities in health research?
    Sep 30 2026
    In this episode of Behind the Genes, we explore Black communities and health research. Our guests discuss why some people feel research is not intended for them, how historical mistrust affects participation, and what needs to change to make research more inclusive, transparent and beneficial for everyone. Our host, Sharon Jones, is joined by: Professor Segun Fatumo - Professor and Chair of Genomic Diversity at Queen Mary University of London Christella Matoko - Project manager at Genomics England Hazel Attua - member of the Participant Panel at Genomics England We also hear from Mica and Mary, who took part in the Our health, our stories video on YouTube, who share their reflections on why taking part in research matters for Black communities. As mentioned in the episode, you can also listen to our latest Genomics 101 episode, What is equity in healthcare?, to learn more about what equity means and why it matters in health research and care. “Engaging in research is bigger than you. It shapes your community, and it shapes the lives of the children coming in the future.” You can read the transcript below. Sharon Jones: [00:00:00] Hello, and welcome to Behind the Genes, the podcast that brings you the stories, research, and innovations shaping the future of genomic healthcare. Today, we're exploring Black communities and health research. Why do some Black people feel that research isn't intended for them? What role does trust play in participation? Sharon Jones: And what needs to change to improve health outcomes now and in the future? I'm Sharon Jones, and joining me today are Christella Matoko from Genomics England, [00:00:30] Segun Fatumo, Professor and Chair of Genomic Diversity at Queen Mary's [University of] London, whose work focuses on improving representation and equity in genomic research, and Hazel Attua, who's a member of the Participant Panel at Genomics England. Sharon Jones: A warm welcome to everyone. So before we dive into these topics, let's start first to try and understand how people perceive research and how that can often influence whether they feel it's something for them. So Christella, I'd love to come to you [00:01:00] first. What comes to mind when you hear the words health research? Christella: I think when I'm talking about health research, what comes to mind is the opportunities to understand certain health conditions in different communities, and it's about understanding that we can get better treatments, and these treatments can prevent health inequalities. Although I might look at it from this lens, the whole of the Black community might not. Christella: I have the knowledge of medical care. I work in Genomics England, [00:01:30] so I understand the benefits of, um, health research and how it can improve outcomes within the healthcare. But when you speak about it in terms of the Black community, research doesn't necessarily sit naturally because of all of the historical mistrust that we've, you know, encountered. Sharon Jones: Yeah. Christella: So for me, good healthcare research should ultimately lead to better outcomes for everyone. And I think when I hear [00:02:00] health research, that's like what I like to think about. Sharon Jones: Yeah. Thank you. Thank you for sharing that. And, and Hazel, like coming to you, does that reflect what you've seen or experienced? Sharon Jones: You know, do you feel that research feels relevant to Black communities and why do you think some people may feel hesitant in, in taking part? Hazel: Yeah, I mean, I completely agree with Christella. I think it's difficult for people in the Black community to sometimes trust when research comes out [00:02:30] because previously there's been a lot of mistrust around research because there hasn't always been a lot of research within the Black communities. Hazel: Like when we talk about research, when we talk about, um, for example, with National Genomic Research Library, so when I used to do work with Genomics England- Christella: Mm. Hazel: I specifically was, um, working on the National Genomic Research Library within, um, diverse data. [00:03:00] And so our role was to get more diverse data into the National Genomic Research Library. Hazel: And so for those that don't know what that is, it's like a biobank. And so a biobank is essentially, um, where you help collect samples. So if you've decided to get into research, it's collecting samples, processing samples. So when we decided to do the initiative or when Genomics England decided to do this initiative, I thought it was [00:03:30] amazing because essentially not that much research was done previously for the Black communities. Hazel: And specifically for sickle cell. So to be able to do this, to be able to help understand the background for sickle cell for the Black communities, it's amazing. To be able to get more treatments and interventions, it's great. But like Christella is saying, like, it's interesting to see different ...
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    33 min
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