Experimental investigation of genetic risk factors for ME/CFS revealed by the DecodeME project

Principal investigator

Prof. Chris Ponting

PhD student

Gemma Samms

Institution

University of Edinburgh

Start date

June 2022

Funding

This project is funded by ME Research UK.

Background and aim

We are delighted to announce ME Research UK’s first award for PhD-level research. This is for a project being conducted at the University of Edinburgh by PhD student Gemma Samms under the supervision of Professor Chris Ponting.

Working in the MRC Human Genetics Unit at the University of Edinburgh, Prof. Ponting’s main area of research is genomics. This is the study of the body’s genes as a whole (the genome): how they are expressed, how they interact and how they affect the body’s function, including how genetic changes influence the development of disease.

Prof. Chris Ponting and Gemma Samms

DecodeME

Prof. Ponting is well known in the ME/CFS world as the principal investigator of DecodeME, a genome-wide association study (GWAS) which aims to find the genetic causes of the illness by analysing DNA samples from 20,000 people with ME/CFS.

GWAS look at small differences in DNA between people, and they have led to a better understanding of the causes of several other diseases including rheumatoid arthritis, inflammatory bowel disease and Alzheimer’s disease. This is also the hope for ME/CFS.

DecodeME will look for locations on the genome with DNA changes that are significantly different between ME/CFS patients and healthy control subjects, and which may therefore be associated with an increased ME/CFS risk.

But that is only the start, and the aim of Gemma’s PhD project in Edinburgh will be to tackle the next job: to identify which specific genes are involved, what types of cell are affected by those genes, and how those changes may lead to alterations in cellular function in people with ME/CFS.

Phase 1

In the first part of her project, Gemma will use computerised statistical methods to analyse the huge amount of data expected to be generated from DecodeME. Her aim will be to identify which dysfunctional genes highlighted by the GWAS are most likely to contribute to the risk of ME/CFS.

Phase 2

Gemma will then investigate the impact of these genetic changes in more detail by looking at their effects on the function of the cells involved. For example, if the affected genes are found to be related to the mitochondria, then experiments can be designed to measure aspects of mitochondrial function that might be altered, such as their consumption of oxygen.

Fortunately, Prof. Ponting’s group has access to the wide range of resources and potential collaborators that may be needed for this phase, because it is obviously impossible to predict exactly which areas of biology will prove to be relevant.

It is fitting that the first of our PhD research funding awards should be to support Gemma, because she has a very personal interest in ME/CFS, having being diagnosed with the disease when she was 18 years old.

Despite the huge changes this brought to her life, Gemma’s passion and dedication have seen her through two degrees and a postgraduate research project, and given her the drive to pursue this PhD. “I fundamentally believe in addressing the cause of disease… and genetics provides the perfect opportunity.”

ME Research UK is delighted to be able to support this very exciting project and to help enable the next steps of Gemma’s research career.

Andrew Williams

With the approval of his family, ME Research UK dedicates this PhD-level funding award to Andrew Williams, a remarkable young man who, but for ME/CFS, would have loved to continue his own studies in genetics at the University of Edinburgh.

Having started his course in 2013, Andrew became ill towards the end of his second year. He never fully recovered and was eventually diagnosed with ME/CFS. When his illness progressed, he had no option but to leave the course he loved and return home.

“He was so brave, determined and uncomplaining,” say his family, “but there are some things that can’t be beaten.” Andrew sadly died in 2019, at the age of 23, a passing which deeply affected all who knew him.