Hello everyone. My name is Genevieve (Gen) and I have joined the Association as Philanthropy Information Officer. One of my roles is to communicate the progress made by our MND researchers, in layman’s terms, to the major donors and Trusts who generously fund much of our research. I will also be sharing research updates more widely by contributing to the Research Blog.
I have a background in research myself and graduated from the University of St. Andrews with a PhD in muscle physiology. My PhD research looked at the effects of temperature on muscle. I specifically investigated the effects of environmental temperature on the muscle biomechanics (how muscle functions to produce movement) and swimming performance in marine fish.
Believe it or not, fish muscle is very similar to our own muscle! This is why the zebrafish is often used as a model organism for human disease, including MND.
Unlike us, however, most fish species are not able to regulate their body temperature. My studies found that their muscle function, and hence ability to survive by catching prey or evading predators, is greatly influenced by seasonal water temperature, developmental stage, habitat and fish species. This is particularly important when considering rising sea temperatures in the context of global warming, which could expose fish to temperatures above those at which their muscle can function optimally.
My postdoctoral research contributed to our understanding of when and where muscle-specific genes are switched on to make protein during development in larval fish. During this time, I was fortunate enough to learn molecular biology techniques at the University of Tokyo and travel to Antarctica to study cold adapted fish.
This fuelled a growing interest in genetics and molecular biology leading to a move to diagnostic cytogenetics within the NHS. Cytogenetics is the study of chromosomes, which are the structures containing our DNA. By looking at them in detail, we can discover the underlying genetic causes of certain disorders. A well-known example of this is Down Syndrome which is due to an extra chromosome 21.
With advances in technology, we are now able to identify very small deletions, duplications or rearrangements in DNA. These would previously have been missed when diagnosis relied solely on looking down a microscope. I spent 15 years working in this fascinating field, mostly in the public health service in Sydney, Australia.
It is exciting for me to see how evolving DNA technology is also advancing our understanding of MND. Over 40 genes that play a role in MND have been discovered in the last 30 years. This is bringing discussions of genetic testing in MND to the forefront, as was recently highlighted by Dr Matthew Harms at the 34th International Symposium on ALS/MND held in December 2023.
Advancements in genetics have also brought MND into the new and exciting area of gene therapy. Gene therapies are designed to specifically target faulty genes and therefore correct the underlying genetic cause of a disease. A treatment called Qalsody (also known as Tofersen) has been developed for people with a rare form of the disease that is due to a mutation in the SOD1 gene. This is the first gene therapy for MND to be recommended for approval by the European Medicines Agency. You can read more about this recommendation on our website.
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When not working for the Association, I run fitness sessions in the beautiful Devon countryside and more gentle exercise classes for older adults and those with limited mobility. I am excited to be working for the Association, helping to share the incredible science that is being done to help people living with MND and to ultimately find effective treatments.
