From genes to the clinic: MND Association and ALS Association-funded researcher wins the ENCALS Young Investigator Award 2014

After attending the ENCALS meeting in May I was busy scheduling the ‘blog a day’ in June, which meant I didn’t get chance to actually report on any developments from the meeting. During our ‘blog a day’ we wrote a lot about genetics, in terms of the UK MND Whole Genome Sequencing project and the UK MND DNA bank. Therefore, I thought it would be a good opportunity to introduce a different area of genetic research and how it relates to what’s going on in the clinic.

The Award

During the European Network for a Cure of ALS (ENCALS) 2014 meeting (Leuven, Belgium 22 – 24 May 2014), Dr Ashley Jones, was awarded the Young Investigator Award.

It’s a highlight of the annual meeting, which showcases and recognises the work of the next generation of researchers in the field of MND, in this case, King’s College London-based Ashley.

But how does it feel to win such a prestigious award? Ashley said:

“Ammar phoned late Sunday evening, in a grave tone, and asked me if I was sitting down. I sat down, and began to worry. When he told me the news, I became inarticulate. I think there was some joyous laughter, and then I repeatedly asked him ‘really!?’”.

Prof Dame Pam Shaw presenting Dr Ashley Jones with the 2014 ENCALS Young Investigator Award

Prof Dame Pam Shaw presenting Dr Ashley Jones with the 2014 ENCALS Young Investigator Award

The exciting world of genetics

Ashley is trying to identify new MND-causing genes, and is also interested in changes in gene behaviour that occur in individual cells. He believes that by studying these changes throughout the course of the disease, we will understand more about MND and therefore identify potential therapeutic targets.

When we think about genetics, we usually think about a DNA sample. Samples of DNA can be taken from any cell in the body, from blood cells to skin cells. The UK MND Whole Genome Sequencing project is utilising our DNA bank (DNA derived from blood samples). However, Ashley is getting his DNA from donated tissue.

It’s all in the tissue

Courtesy of Dr Robin Highley, SITraNOur bodies are made up of millions of cells, some of which become so specialised that they work together to form tissues. Tissues make up all the organs in our bodies, including the brain and spinal cord.

Donated tissue is an everlasting resource for MND research; a highly valuable gift for MND researchers like Ashley. By studying donated brain and spinal cord from people with MND and comparing this with healthy controls, researchers are trying to find out more about the causes of the disease. Find out more about tissue donation here.

Most commonly these donated tissues are investigated at the cellular-level, with researchers looking for changes in the cells themselves. However, Ashley is looking even deeper, to see if genes are involved at the molecular-level.

Ashley said: “I am fascinated in the idea of the neuroanatomical spread of MND [how the disease spreads from one motor neurone to the next, throughout the body], and the role genetics has to play.”

By looking for gene changes along the donated spinal cords, Ashley is identifying gene changes that may help him identify how the disease spreads throughout the body.

“My research seems to suggest that the behaviour of these genes seem to change throughout the course of the disease. These gene changes tell us what is happening to the cells and causing them to die in MND. If specific functions within the cells are damaged or broken, we may then be able to develop a potential treatment to target these.”

What’s next?

Ashley’s research wouldn’t be possible without the generous gift of tissue donation. Looking at mice and zebrafish can only take us so far in understanding MND, and we inevitably need to come back and compare these findings to what’s going on in people.

Ashley said: “The changes in gene behaviour throughout the disease have sparked collaborations with other groups, in which we are looking to replicate these findings. What is exciting is that these groups’ findings point in a similar direction to ours!”

Thanks to advances in genetic research, researchers like Ashley are contributing to a better understanding of what causes MND. The ENCALS Young Investigator Award recognises work in advancing our understanding of MND and we are proud to play a part, by funding researchers like Ashley.

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