Identifying the genetic causes of MND in specific populations

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Dr Russell McLaughlin from Trinity College Dublin is one of our Junior Non-Clinical Fellows.

Our Non-Clinical Fellowships were awarded for the first time last year. They aim to retain and develop early and mid-career MND researchers conducting biomedical research. These fellowships are funded for up to four years. We are currently funding two junior and two senior fellowships.

In this three-year research fellowship, which began in January, Dr McLaughlin is studying the more subtle genetic causes of MND (our reference: 957-799).

Why is genetic research important in MND?

We know that for approximately 5-10% of people living with MND, the cause of the disease is primarily due to a mistake within the genes. We also know that very subtle genetic factors, together with environmental and lifestyle factors contribute to why the majority of people develop the disease.

It is likely that these subtle genes are quite rare, and that is why we have not found them so far. As part of his research, Dr McLaughlin is hoping to identify the rarer gene variants that may be linked to MND.

Dr McLaughlin’s fellowship research

Dr Russell McLaughlin
Dr Russell McLaughlin

Dr McLaughlin’s study involves sequencing the genetic code from DNA samples taken from over 1000 Irish individuals, 700 of whom have ALS (amyotrophic lateral sclerosis, a form of MND).

Using these genetic sequences, large family trees can then be created. Looking deeper in family trees can sometimes throw out unexpected relationships, and it is likely the newly created family trees will link ALS patients who were previously assumed to be unrelated. These ‘superfamilies’ will give researchers a greater chance of identifying rarer gene variants linked to ALS development.

Talking about another aspect of this research, Dr McLaughlin said: “This project may answer questions over if populations with a certain ancestry seem to be at greater risk of developing ALS than others.

“It could also help explain if the geographical differences in risk of ALS seen throughout Ireland are linked to genetics, or down to local environmental effects.”

Throughout June 2016 MND Awareness Month will be highlighting the rapid progression of the disease in its powerful Shortened Stories campaign, sharing the experiences of people currently living with MND, or who have lost loved ones to the disease, through art, poetry and film.