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Podcast Review: Why Me? Searching for genetic susceptibility to chronic fatigue syndrome and pain

25 October 2021
Appeared in BioNews 1118

Chronic fatigue and pain are long-term debilitating diseases affecting many people worldwide. Despite decades of research, the specific mechanism or an effective therapy has not yet been found.

The episode 'Why me? Searching for genetic susceptibility to chronic fatigue syndrome and pain' from Genetics Unzipped the Genetics Society podcast describes how experts in Scotland are involved in clinical and research studies trying to decipher if these diseases have a genetic component.

The host of the podcast, Dr Kat Arney, is an expert in genetics and an excellent science communicator. She is a clever interviewer who fluently helps the listener understand complex subjects in a logical and interesting way.

This episode starts with an introduction to myalgic encephalomyelitis or chronic fatigue syndrome (ME/CSF). Dr Arney explains that the disease is typically characterised by extreme fatigue that can be accompanied or not by muscle pains, headaches, problems sleeping or eye pain. The origins of these conditions are unknown and sometimes controversial, with some arguing they are caused by an initial infection, but research into this has proved inconclusive. Soon after, she introduces her first guest, Professor Chris Ponting from the Institute of Genetics and Cancer at the University of Edinburgh. He starts by explaining that even if an important number of people with ME/CSF had a previous infection – meaning that a component of the immune system may be involved in the development of the disease – little is known about the causes of the disease.

Professor Ponting leads the research project DecodeME, with a goal of finding an 'immune signature': gene variations that are common in people with ME/CFS, and not found in the control group. Professor Pointing states: 'I'm excited to look at this new challenge from a genomic perspective'. He also explains that the results of DecodeME won't necessarily lead to finding a direct cure for ME/CFS, but, a potential target may be characterised and further research could lead to innovative treatment.

Later on in the episode, it is the turn of Andy Devereux-Cooke, an ME/CFS patient that is involved in the management team of DecodeME. He's happy to explain that this study is led by professionals and patients, with patients involved in every step of the study. Devereux-Cooke states that the professionals working on DecodeME take inputs from the patients very seriously, making them an essential part of the project.

DecodeME plans to study the whole genome of 20,000 people in the UK diagnosed with ME/CFS. Each participant receives a home kit to take saliva samples, which are sent back to the lab by post.

I was pleased to hear about patients' involvement in the development of the project, and hopefully collecting samples this way – without the need of patients going in-person to a hospital or clinic – will encourage more people to take part.

The second part of the podcast begins with Dr Arney giving an introduction on chronic pain, explaining it as a pain that is difficult to manage and treat effectively that has been persistent for three months or more.

The first guest is Professor Blair Smith, a consultant in pain medicine at Ninewells Hospital in Dundee and a clinical researcher at the University of Dundee who works on the 'Generation Scotland' project. Professor Smith explains that pain is different for every person because it has psychological, social, and even spiritual components. The most common chronic pain is low back pain, but there are also conditions such as fibromyalgia, that have no physiological explanation. Today, the most-used treatments to treat chronic pain are opioids, but they do not provide effective long-term relief. Professor Smith says that clinicians are trying non-pharmacological therapies on patients, such as physical activities, psychological approaches, but none of those is 100 percent effective, meaning that more research needs to be conducted to find new effective treatments.

Generation Scotland is trying to understand if there is a genetic link to chronic pain, which the next guest, Professor Caroline Hayward from the Institute of Genetics and Cancer at the University of Edinburgh explains. Generation Scotland is a genome-wide association study, where the researchers are trying to identify DNA regions that are associated with people who have pain but that are not found in people who are pain-free. Professor Hayward says that in addition to factors of age and sex, scientists know that in some cases, genetic components are important since some studies have shown that pain runs in families. She explains that chronic pain is a complex disease involving many components. Hence, the only way of obtaining significant results is by involving a large number of individuals in the study, which is exactly what Generation Scotland is trying to attempt, studying more than 24,000 people within more than 7000 families in Scotland.

I found the podcast well-structured, very informative and engaging. However, in my opinion, it is necessary to have some expertise on pain and/or genetics to easily absorb all the information. What I enjoyed the most was the inputs from different characters involved in the studies: researchers, clinicians, and a patient. I felt that the variety of voices and opinions encompasses pain as a whole.

Having studied the mechanisms of pain, I can say that this episode highlights the complications of understanding the biology of pain, and how it still is a black box for scientists and clinicians. But hope is not lost. I believe that large clinical studies, such as DecodeME and Generation Scotland, will aid scientists to decipher the mystery of pain and discover pathways to new treatments.

SOURCES & REFERENCES
Why me? Searching for genetic susceptibility to chronic fatigue syndrome and pain
Genetics Unzipped - The Genetics Society Podcast |  17 June 2021
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