Professor Chris Ponting is Chair of Medical Bioinformatics at Edinburgh University and a Principal Investigator at the MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine. His research group has made substantial contributions to protein science, evolutionary biology, genetics and genomics. He has served on the editorial boards of numerous medical journals including Genome Research, Genome Biology, Human Molecular Genetics, Annual Review of Genomics and Human Genetics and Trends in Genetics. He is a Fellow of the Academy of Medical Sciences and is Principal Investigator for the Decode ME study over the next 4 years.
Professor Ponting took time out from his busy schedule to talk about the Decode ME study that seeks to understand the causes of ME. In turn, this should help with the discovery of effective treatments for ME which are so desperately needed.
The study will be the largest ever biomedical study of ME as it needs 20,000 participants. If you would like to register an interest in participating in the study then please use the link below.
https://www.decodeme.org.uk/
DM: How did you get involved in the field of ME research?
CP: Simon McGrath has lived with ME for many years. He’s a very good friend of mine from way back and I watched in frustration and sadness as the disease took its toll on him and everyone around him. Like many people, I felt unable to help. Professionally over this time, I began working on DNA and genes and eventually – as the technology improved and became cheaper – I saw that a genetic study of ME was feasible and the next logical research step. I supported the MEGA genetics study but its relationship with the community was poorly developed, and it wasn’t funded.
DM: Can you tell us about your hopes and ambitions for the Decode ME research study?
CP: DecodeME is a joint project with the London School of Hygiene and Tropical Medicine and – most importantly – with people with ME (pwME) and carers. Its overall scope and design evolved through multiple stages and conversations with funders, charities and scientists, and with pwME on Twitter and the Science for ME forum. These conversations will carry on throughout our 4 year project and beyond.
It is our shared hope that the DecodeME project will have three major impacts:
(1) To pinpoint multiple places in human DNA that increase the chance that someone is diagnosed with ME. If the genes that are pinpointed in this way have something in common – perhaps they contribute to the immune system or the nervous system, or they act on the mitochondrion (the battery of the cell) – then we will know that it is this that has gone wrong in ME. This is important because scientists do not agree on the root causes of ME, and only when we have strong evidence for these causes can the hunt for drugs and therapy truly begin.
(2) To build a huge bioresource containing DNA data and questionnaire answers from over 20,000 pwME. This will be stored securely and will be available – in anonymised form – to bona fide ME researchers anywhere in the world and in universities and drug companies. Having data from such a large number of people is essential if ME research is to come up with robust discoveries that are repeated again-and-again.
(3) Lastly, but equally importantly, to change the conversation – in society, in GP surgeries and among friends and family – by revealing the organic biomedical causes of ME. ME is a complex disease with environmental (e.g. virus) as well as genetic contributions and it is important for us as scientists to find a path through these complexities that leads to effective treatment and drugs.
DM: Over the last few decades most of the research studies into ME have had little interaction with the ME community. Can you explain how the Decode ME study will actively involve the ME community?
CP: In this study, community engagement is not an after-thought. Rather, pwME, their carers and ME charities have sat with scientists over several years, together drawing up the study’s plans, writing its documents and talking to marketing agencies and media. As a scientist, it is hugely valuable to be able to consult regularly with the true ME experts (i.e. pwME) as colleagues. The community is front and centre of this study and we would not have received funding and the overall positive response without it.
DM: In the field of any research scientists are studying the illness using a variety of different approaches. These range from studies of the immune system and post exertion malaise to metabolomics. The Decode ME study is going to examine the differences in DNA between healthy people and people with ME. Can you explain why you have chosen a DNA approach to the illness?
CP: A DNA study has a major advantage over others: its results indicate root causes of illness rather than effects of illness. (This is because DNA doesn’t change with ME onset or symptoms). With most other approaches it is not usually possible to know if changes to the immune system or to metabolites indicate the effects of illness, or the cause. For example, people who are unable to exercise are likely to show molecular changes that are solely due to being sedentary, rather than highlighting the root causes of their disease. The type of DNA study we are pursuing is called a Genome-Wide Association Study (GWAS) and it has already been applied to many different diseases in order to find out their root causes. It’s time that ME/CFS science took full advantage of this cutting-edge genetics approach which is entirely complementary to approaches taken by other ME/CFS researchers. I’d encourage anyone interested in the study to register on our website www.DecodeME.org.uk and read its ‘Frequently Asked Questions’ page www.DecodeME.org.uk/faqs/ which was created by pwME working with researchers.
DM: What impact are you hoping your study will have upon our understanding of ME and potential treatments for the illness?
CP: Frustratingly, ME research has failed to deliver tangible benefits for most patients. We think that this is because most biomedical research studies do not study sufficient pwME to make robust discoveries, and do not account for differences among pwME such as symptom severity. Identification of genes and cellular processes that are disrupted in ME/CFS risk is a necessary first step towards effective therapy. This is because drugs that are supported by DNA evidence are over twice as likely to be successful in phase II and III trials than those without. Our study is only the first step towards therapy but we will complete it as quickly as we can.
DM: There are many people who have recovered from Covid-19 who are reporting serious problems with post viral fatigue. Do you think that this issue together with the impact of the Decode ME study may lead to further investment into ME research from the Medical Research Council and National Institute for Health Research?
CP: The COVID-19 pandemic continues to devastate lives, here in the UK and around the world. Researchers are already starting to investigate the long-term consequences of COVID-19. From previous research, some estimate that 10% of people with COVID-19 symptoms will report post viral fatigue and, eventually, ME-like symptoms. It should not have taken a pandemic to highlight the prevalence and impact of ME, but there are signs that COVID-19 research might shed light on ME (and vice versa).
DM: Many people with ME have faced stigma from both the public and/or members of the medical profession. This is due to a lack of education for health professionals and persistent myths peddled by media that ME is a psychological/somatic illness. What can public health authorities do to help redress this situation?
CP: I am neither a public health researcher nor a clinical scientist. As an interested onlooker, however, I see the positive impact that a new educational module for healthcare professionals (https://www.studyprn.com/p/chronic-fatigue-syndrome) is already making.
DM: In your opinion what should public health bodies in Britain do to help improve the life outcomes for people with ME?
CP: I’m not professionally qualified to comment on public health issues. My DecodeME experience, however, has taught me that a tremendous amount can be done by working with – and not against – pwME and the ME community.
CP: I’m not professionally qualified to comment on public health issues. My DecodeME experience, however, has taught me that a tremendous amount can be done by working with – and not against – pwME and the ME community.
Professor Ponting took time out from his busy schedule to talk about the Decode ME study that seeks to understand the causes of ME. In turn, this should help with the discovery of effective treatments for ME which are so desperately needed.
The study will be the largest ever biomedical study of ME as it needs 20,000 participants. If you would like to register an interest in participating in the study then please use the link below.
https://www.decodeme.org.uk/
DM: How did you get involved in the field of ME research?
CP: Simon McGrath has lived with ME for many years. He’s a very good friend of mine from way back and I watched in frustration and sadness as the disease took its toll on him and everyone around him. Like many people, I felt unable to help. Professionally over this time, I began working on DNA and genes and eventually – as the technology improved and became cheaper – I saw that a genetic study of ME was feasible and the next logical research step. I supported the MEGA genetics study but its relationship with the community was poorly developed, and it wasn’t funded.
DM: Can you tell us about your hopes and ambitions for the Decode ME research study?
CP: DecodeME is a joint project with the London School of Hygiene and Tropical Medicine and – most importantly – with people with ME (pwME) and carers. Its overall scope and design evolved through multiple stages and conversations with funders, charities and scientists, and with pwME on Twitter and the Science for ME forum. These conversations will carry on throughout our 4 year project and beyond.
It is our shared hope that the DecodeME project will have three major impacts:
(1) To pinpoint multiple places in human DNA that increase the chance that someone is diagnosed with ME. If the genes that are pinpointed in this way have something in common – perhaps they contribute to the immune system or the nervous system, or they act on the mitochondrion (the battery of the cell) – then we will know that it is this that has gone wrong in ME. This is important because scientists do not agree on the root causes of ME, and only when we have strong evidence for these causes can the hunt for drugs and therapy truly begin.
(2) To build a huge bioresource containing DNA data and questionnaire answers from over 20,000 pwME. This will be stored securely and will be available – in anonymised form – to bona fide ME researchers anywhere in the world and in universities and drug companies. Having data from such a large number of people is essential if ME research is to come up with robust discoveries that are repeated again-and-again.
(3) Lastly, but equally importantly, to change the conversation – in society, in GP surgeries and among friends and family – by revealing the organic biomedical causes of ME. ME is a complex disease with environmental (e.g. virus) as well as genetic contributions and it is important for us as scientists to find a path through these complexities that leads to effective treatment and drugs.
DM: Over the last few decades most of the research studies into ME have had little interaction with the ME community. Can you explain how the Decode ME study will actively involve the ME community?
CP: In this study, community engagement is not an after-thought. Rather, pwME, their carers and ME charities have sat with scientists over several years, together drawing up the study’s plans, writing its documents and talking to marketing agencies and media. As a scientist, it is hugely valuable to be able to consult regularly with the true ME experts (i.e. pwME) as colleagues. The community is front and centre of this study and we would not have received funding and the overall positive response without it.
DM: In the field of any research scientists are studying the illness using a variety of different approaches. These range from studies of the immune system and post exertion malaise to metabolomics. The Decode ME study is going to examine the differences in DNA between healthy people and people with ME. Can you explain why you have chosen a DNA approach to the illness?
CP: A DNA study has a major advantage over others: its results indicate root causes of illness rather than effects of illness. (This is because DNA doesn’t change with ME onset or symptoms). With most other approaches it is not usually possible to know if changes to the immune system or to metabolites indicate the effects of illness, or the cause. For example, people who are unable to exercise are likely to show molecular changes that are solely due to being sedentary, rather than highlighting the root causes of their disease. The type of DNA study we are pursuing is called a Genome-Wide Association Study (GWAS) and it has already been applied to many different diseases in order to find out their root causes. It’s time that ME/CFS science took full advantage of this cutting-edge genetics approach which is entirely complementary to approaches taken by other ME/CFS researchers. I’d encourage anyone interested in the study to register on our website www.DecodeME.org.uk and read its ‘Frequently Asked Questions’ page www.DecodeME.org.uk/faqs/ which was created by pwME working with researchers.
DM: What impact are you hoping your study will have upon our understanding of ME and potential treatments for the illness?
CP: Frustratingly, ME research has failed to deliver tangible benefits for most patients. We think that this is because most biomedical research studies do not study sufficient pwME to make robust discoveries, and do not account for differences among pwME such as symptom severity. Identification of genes and cellular processes that are disrupted in ME/CFS risk is a necessary first step towards effective therapy. This is because drugs that are supported by DNA evidence are over twice as likely to be successful in phase II and III trials than those without. Our study is only the first step towards therapy but we will complete it as quickly as we can.
DM: There are many people who have recovered from Covid-19 who are reporting serious problems with post viral fatigue. Do you think that this issue together with the impact of the Decode ME study may lead to further investment into ME research from the Medical Research Council and National Institute for Health Research?
CP: The COVID-19 pandemic continues to devastate lives, here in the UK and around the world. Researchers are already starting to investigate the long-term consequences of COVID-19. From previous research, some estimate that 10% of people with COVID-19 symptoms will report post viral fatigue and, eventually, ME-like symptoms. It should not have taken a pandemic to highlight the prevalence and impact of ME, but there are signs that COVID-19 research might shed light on ME (and vice versa).
DM: Many people with ME have faced stigma from both the public and/or members of the medical profession. This is due to a lack of education for health professionals and persistent myths peddled by media that ME is a psychological/somatic illness. What can public health authorities do to help redress this situation?
CP: I am neither a public health researcher nor a clinical scientist. As an interested onlooker, however, I see the positive impact that a new educational module for healthcare professionals (https://www.studyprn.com/p/chronic-fatigue-syndrome) is already making.
DM: In your opinion what should public health bodies in Britain do to help improve the life outcomes for people with ME?
CP: I’m not professionally qualified to comment on public health issues. My DecodeME experience, however, has taught me that a tremendous amount can be done by working with – and not against – pwME and the ME community.
CP: I’m not professionally qualified to comment on public health issues. My DecodeME experience, however, has taught me that a tremendous amount can be done by working with – and not against – pwME and the ME community.
