The ME/CFS Biomedical Partnership, led by Prof Chris Ponting and Dr Luis Nacul, plan a huge genetic study and a major expansion of the UK ME/CFS biobank. The partnership will give patients and their representatives a major role in planning and running the project. The genetic research, a genome-wide association study, would need to recruit 20,000 people with ME/CFS – and the researchers know they can only do with the support of the patient the community.

A new research team is hoping to boost UK biomedical research with a proposal for a very large genetic study and a major expansion of the UK ME/CFS biobank. The new ME/CFS Biomedical Partnership is headed up Professor Chris Ponting, and Dr Luis Nacul who leads the CureME and UK ME/CFS Biobank team. The partnership plans to submit a grant application for the two studies to the Medical Research Council (MRC) and the National Institute of Health Research (NIHR) early next year.

Not only are the partnership’s plans for research studies ambitious, but it is also setting new standards for involving patients and their representatives in research. This includes a patient and a patient representative joining Ponting and Nacul as co-investigators.

The proposal reflects a lot of work by the CFS/ME Research Collaborative (CMRC) to bring researchers together and boost biomedical research. Earlier this year, the CMRC joined forces with CureME to put forward an outline proposal to the MRC’s scientific strategy board. The strategy board recommended that there should be a workshop to strengthen the plans.

The next step

The MRC and NIHR have now announced a workshop that will bring together scientists, charities and patients to provide recommendations to improve the research proposal. This is an encouraging sign, but the proposal must go through peer review and, as Ponting was at pains to point out to me, typically only one in five grant applications win funding.

A very big genetic study

The partnership released a Q&A revealing how the genetic study will work.

The plan is for a genome-wide association study (GWAS). The genome is our complete set of genetic information – all our DNA – and is made up of more than three billion DNA nucleotide base pairs. A GWAS identifies small DNA difference (known as variants) between people with a disease, and those without. These differences point to the genetic roots of ill-health, helping to identify biological causes and guide drug development. (Read more about the science of GWAS.)

Genome-wide association studies have revealed biological insights into many diseases. For example, they have exposed the role of microglia, the brain’s immune cells, in Alzheimer’s disease; have given a better understanding of how rheumatoid arthritis starts and have helped to identify numerous genes involved in type II diabetes.

As a result of such biological insights, drug development is underway in numerous diseases including both rheumatoid arthritis and type II diabetes, and inflammatory bowel disease.

To be clear, the impact of individual genetic variants that might be found in a GWAS are likely to be much more subtle than those of single-gene disorders such as cystic fibrosis, where anyone with two copies of a damaged gene will develop the disease. Instead, each genetic variant will only have a very small effect. Ponting said.

“DNA variants are like small pieces of paper that – placed under the legs of a pool table – tip the balance of the table so that a ball rolls in one direction more than another.”

Very large samples are needed to reliably detect such small effects. The ME/CFS Biomedical Partnership is proposing a study of 20,000 people with ME/CFS, and results from this will be compared with existing data for matched people without ME/CFS.

Recruiting 20,000 people with ME/CFS represents an enormous challenge, one the researchers are well aware they can only achieve with the support of the patient community. The researchers will apply for a marketing budget and will seek professional input, but they are also keen to draw on patient expertise to plan the campaign, as well as to promote it.

Simple sign-up

The researchers are trying to make joining the study as simple as possible and plan a “spit and post” design to collect saliva for DNA extraction. This should make it possible for severely affected to take part.

The first step for people will be to complete an online screening questionnaire (the CureME patient questionnaire that has been in use for the UK ME/CFS Biobank for several years). The aim is to also make a paper questionnaire version available for those who find this easier.

CureME will be responsible for the accurate selection of people with ME/CFS, using diagnostic criteria (including the Canadian Collaborative Criteria, CCC) that fit with those used by the UK ME/CFS biobank and the National Institutes of Health (NIH) funded collaboratives in the US.

Patients to the fore

“Patients will always be at the heart of the study” ME/CFS biomedical partnership GWAS Q&A

Patient representatives will be part of the study management group. In addition, the Patient Advisory Group of the CMRC and the Steering Committee of the CureME Biobank which includes patients and charities will be involved in all aspects of the project.

One representative from the CureME Biobank Patient Group, Andy Devereux-Cooke, who is also a co-founder of Science for ME forum, and one from the CMRC, Sonya Chowdhury, CEO of Action for M.E., are setting up a Patient and Public Involvement (PPI) Steering Group. Chowdhury and Devereux-Cooke have joined the project as co-investigators.

Charles Shepherd of the ME Association and the Countess of Mar (on behalf of the Forward ME group and its charities) will also join the steering group.

Fingers crossed

The proposed GWAS, and biobank expansion, would represent a huge boost to UK ME/CFS biomedical research. But they will only happen if the partnership’s proposal is funded by the MRC and NIHR. For now, we will just have to watch and wait.

You can read the full Q&A here.

The partnership has said it will provide more details about the expansion of the UK ME/CFS biobank as soon as they can. I plan to blog about it when they do.

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Image credits: Figure and DNA, (c) Can Stock Photo / DavidCarillet; blood sample, (c) Can Stock Photo / incomible; Ponting, ; Dr Nacul, CureME website; Pool table, Pexels from Pixabay; DNA/crowd, ID 73451852 © Roman Fedin | Dreamstime.com;