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Behind the Genes

Behind the Genes

By: 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. Biological Sciences Science Social Sciences
Episodes
  • What is genomics?

    What is genomics?
    Jul 15 2026
    In this explainer episode, we’ve asked Ella Davyson, Genomics Data Scientist, to explain the meaning of the term genomics. You can also find a series of short videos explaining some of the common terms you might encounter about genomics on our YouTube channel. If you’ve got any questions, or have any other topics you’d like us to explain, let us know on podcast@genomicsengland.co.uk. You can download the transcript or read it below. [00:00:00] Florence: What is genomics? My name is Florence Cornish, and today I'm joined by Ella Davyson, who is a genomics data scientist here at Genomics England, and she is here to explain the topic in much more detail So, Ella, we obviously both work at Genomics England. This podcast is called Genomics 101, so I guess it's fitting that we have an episode dedicated to explaining the term 'genomics'. [00:00:26] But before we get into that, I think it would be good if you could first explain what we mean by the term 'genome'. [00:00:32] Ella: Thanks, Florence. The genome is, essentially you can think of it like a manual booklet, or instructions that the body uses in how to grow, survive, and function, and this is a manual that's in every single cell within our body, and it tells our cells exactly how to divide, how to survive. [00:00:54] For example, the genome in the pancreas, in pancreatic cells will tell those cells how to produce proteins such as insulin that we need to control our blood sugar. And also, the genome within our eye cells will tell the cells how to generate photoreceptors to enable us to see. So the genome is essentially like the ultimate guide that our body uses to tell it how to create everything that we need to survive going forwards. [00:01:25] Florence: So then, what do we mean by the term 'genomics'? [00:01:30] Ella: So, genomics is essentially the study of the entire human genome. So we study its structure and also how it functions, in terms of how is this instruction manual being read by the body, and how does that result in healthy human beings that we see today. [00:01:48] Florence: So when we're talking about studying DNA, lots of our listeners might have heard the term 'genetics', which kind of also refers to the study of DNA and genes, so it might be a little bit confusing. [00:01:58] So what's the difference between the two? What's the difference between genetics and genomics? [00:02:04] Ella: So genetics is specifically the study of genes in the genome, and genes are part of the instruction manual, that specifically tell the body to produce a certain thing. So, in our insulin example, there is an INS gene, so, which is the gene in the genome or the instruction manual that specifically tells the cells to make insulin and to produce this product. [00:02:30] There are many different genes in our genome, and genetics is the study of all of these. In contrast, genomics is the study of the entire instruction manual altogether, so that includes all of the genes in genetics and also everything else in the manual. So, genetics is limited to the study of these parts of the manual that clearly encode certain proteins or products such as insulin. Genomics is the study of everything all at once, everything under the bathroom sink. So yeah, the confusion I think can arise a lot because historically when we first started looking at DNA and researching genetics, we didn't have the technology to look at the whole genome all at once, and with older sequencing technologies we would focus on particular genes that we knew important for certain diseases. [00:03:19] So in diabetes, for example, they would instead specifically look at the insulin gene and see how does this influence diabetes, rather than looking at the entire instruction manual at once. Nowadays, we do have that technology, and that is what we do here at Genomics England, just use that to look at the entire genome rather than specific subsets of the genome, so specific genes. [00:03:45] We can look at everything in its entirety. So, you can kind of think of genomics as a much broader, more complete study of genetics. [00:03:56] Florence: So speaking of genomic testing, I don't know if you saw, but in the government's 10-year Health Plan that they published last year, they predicted that genomics could play a role in up to 50% of healthcare interactions. [00:04:08] Could you tell me a bit about why genomics is important in healthcare? [00:04:12] Ella: So that's a really exciting point, and I think one that we should be all striving towards. So, genomics can play a role in healthcare in so many different ways. I think before going into each of them, it's kind of maybe important just to illustrate that our genomes between two, two people are 99.9% the same. [00:04:38] So we're both humans. We are both the same species. There is 0.1% difference between two people's genomes, and those differences underlie all the uniqueness that makes a person a unique individual. [00:04:54] So personality, ...
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    10 mins
  • What happens after a new rare genetic condition is discovered?

    What happens after a new rare genetic condition is discovered?
    Jul 29 2026
    Two years after researchers identified ReNU syndrome, where are we now? In 2024, two independent research teams identified the genetic cause of ReNU syndrome, a rare neurodevelopmental condition affecting thousands of people worldwide. The discovery marked the beginning of a new chapter for families searching for answers and opened up exciting new avenues for research. In this episode, host Sharon Jones revisits the story to explore what has happened since that breakthrough. She is joined by: Professor Nicky Whiffin, Associate Professor and Wellcome Career Development Fellow at Big Data Institute and Centre for Human Genetics, University of Oxford Christina Cox, Co-founder of ReNU Syndrome UK and parent of a child with ReNU syndrome Dr Ana Lisa Tavares, Clinical Lead for Rare Disease at Genomics England Together, they discuss how researchers around the world have built on the original discovery to deepen our understanding of ReNU syndrome, why studying the non-coding regions of our DNA is revealing previously unknown rare conditions, and how collaboration between researchers, clinicians and families is accelerating progress. They also explore how the growing ReNU community is supporting newly diagnosed families and what the future could hold for new treatments. Links: Previous episode detailing the discovery of ReNU Syndrome ReNU Syndrome UK's website Original research paper from Nicky's team in Oxford Original research paper from the team based in New York “It's been only two years since our paper came out about this, and in that time, there are now patient family groups that have been set up all around the world. There is the one in the UK led by Christina and the others. There's the one in the US that's led by a group of four women, and there are ones in France, Spain, like, literally all around the world. And all of these groups are also somewhat coordinated. The leads of these groups meet with each other. They've organised meetups. I've been to ones in the US, the UK, and in France. So the fact that they can mobilise all of that and create such a community so quickly is absolutely incredible.” You can download the transcript, or read it below. [00:00:00] Sharon: In 2024, two independent research teams identified a genetic cause of a rare neurodevelopmental condition affecting thousands of people around the world. Since then, that initial groundbreaking discovery has grown into something much bigger, bringing together families, researchers, and clinicians, and building a clearer picture of what we now know as ReNU syndrome. [00:00:26] Sharon: Welcome to Behind the Genes, the podcast that covers everything from cutting-edge research to real-life stories in genomic healthcare. I'm Sharon Jones, and in today's episode, we're looking at what's happened since that discovery, what researchers are continuing to learn, and what the future could hold for people living with  ReNU Syndrome and their families. [00:00:46] Sharon: To help us understand more, I'm joined by Professor Nicky Whiffin, Christina Cox, and Dr. Ana Lisa Tavares. So, two papers were published around the same time for this condition. To start us off, Nicky, you worked on one of these papers. Could you explain how this journey first began? [00:01:05] Nicky: Yeah, so this was two years ago now, back in early 2024, where two research teams, so us based in Oxford and a, a group based in New York, were both looking at the data within the National Genomics Research Library, and we both kind of somewhat simultaneously found that there was variance in this very, very small gene, it's called RNU4-2, were found in individuals with previously undiagnosed neurodevelopmental disorders. [00:01:39] Nicky: And this was very, very striking because we initially actually identified the same single DNA change or mutation in 40 or so different individuals within the National Genomics Research Library, and we normally expect to see a whole host of different variants. We don't expect to see the same one. [00:01:59] Nicky: So this was a really, really surprising finding. And it was through a collaboration, large scale collaboration across the world where we started contacting our other collaborators who have similar collections of patients who have been genome sequenced to ask if they had any individuals with DNA changes in this gene. [00:02:17] Nicky: And we found some in the US, some in, in Australia, some in France and Germany. So very, very quickly built up this, this complete picture of variants in this gene, causing this rare neurodevelopmental disorder [00:02:35] Sharon: of people finding it at the same time, what, what did that feel like? [00:02:39] Sharon: Like, give us a ense of, like, that compelling, "We think we found something." What was that like? [00:02:46] Nicky: I didn't believe it initially. You're always told when you're a scientist that if it looks too good to be true, it's, it's not true, ...
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    31 mins
  • What are cancer vaccines?

    What are cancer vaccines?
    Aug 12 2026
    In this explainer episode, we’ve asked Dr Antonio D'Alessio, Medical Oncologist at Guys and St Thomas Foundation Trust, to explain cancer vaccines and how they work. 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. You can download the transcript or read it below. Florence: What are cancer vaccines and how do they work? My name is Florence Cornish, and today I'm joined by Antonio D’Alessio, who is a medical oncologist ay Guy's and St Thomas' Foundation Trust and King's College. And he's going to be telling us much more about the topic. So Antonio, before we get into cancer vaccines, I wanted to first ask you about cancer. I know it's a pretty broad term, and it refers to the uncontrolled growth of cells in the body, but maybe it would be helpful for you to explain a little bit more about what cancer actually is, like what that term means, especially for listeners out there who might not have that scientific background. Antonio: Yeah, of course. And first of all, thanks for inviting me today. Well, that's a big question. The point is that we know that in our bodies there are billions of cells, and all of these cells, they divide, they do their job, and they know when to die on schedule. The point is that sometimes there are cells that ignore this instruction and just keep reproducing and growing, and this is when cancer grows. Our bodies have systems, which is the immune system, to recognize when this happens so that the immune system can recognize the cancer cells that are growing too much. They attack them and destroy them. But unfortunately, sometimes cancer is quite clever, they manage to escape from the immune system and starts growing without control, and that's when cancer starts. Florence: And so, what are the standard treatments that we use for cancer at the moment? Antonio: Well, broadly speaking, I would say that we have three types of cancer treatments. One, it's surgery, where we just cut the cancer out. Then we have radiotherapy, where we basically induce targeted damage to the cancer. And then we have a very broad umbrella term that is systemic therapy. Systemic therapies can be chemotherapy, can be targeted therapies, and that can be immunotherapy. In particular, immunotherapy is quite exciting because over the past 20 years, we have learned how to boost the immune system of patients, so that's the white blood cells, the immune system of patients that can recognize cancer cells and attack them. Sort of imagine that cancers hide behind an invisibility cloak, and immunotherapy helps unveil the cancer so that the immune system can recognize the cancer again and attack it. And vaccines and cancer vaccines are part of this family of immunotherapy drugs. Florence: Yeah so speaking about that, I think lots of listeners might have heard of the term cancer vaccine before, obviously, its the topic of this episode. And I think the term cancer vaccine sounds very interesting and promising, but also maybe a little bit intimidating as well. So maybe you could tell me more about what a cancer vaccine is kind of at the most basic level. Antonio: Well, cancer vaccine is a vaccine, and we have received so many vaccines in our lives that our body basically has learnt already how to process a vaccine. Imagine a vaccine as a wanted poster. So, we give the body the instructions to recognise something that shouldn't be there, and the immune system knows how to do it. So, the job of the immune system is to recognize strangers in our bodies - that can be microbes, bacteria, viruses, and also cancers. And sometimes with a vaccine, we sort of help the immune system to do its job a bit better. And with vaccines, we provide the instructions to recognize these strangers in our body and help the immune system to, to get rid of them. And in particular, for cancer vaccines, we have different types of cancer vaccines. There's a family of cancer vaccines that are called preventative, where we can try to give a vaccine even before the cancer develops to reduce the risk that the cancer develops. And, this is more early in the development. While we have, another family of cancer vaccine, which are mostly mRNA cancer vaccines that are called therapeutic. So these are cancer vaccines that are given to patients who already have cancer, maybe who had the surgery for their cancers, so that the aim of the cancer vaccine is to boost immune system and reduce the chances that the cancer comes back after surgery, or, help other types of immunotherapy work better together with vaccine against the cancer. Florence: So, I think for me at Genomics England, the mRNA cancer vaccines are probably most relevant to the work that we do here as an organization. Could you explain a little bit more about how those ones work...
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    8 mins
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