MAIA FARRUGIA WISMAYER | The genetics of Motor neuron diseases

Updated: Dec 31, 2021

​​Meet Maia

I am currently a PhD candidate within the Centre for Molecular Medicine and Biobanking at the University of Malta. My fascination with genetics began during my secondary school years, fuelled by deep curiosity about what makes individuals similar and different from one another. This curiosity, coupled with an interest in human disease led me to delve deeper into this exciting field, leading me to where I am today.

The genetics of Motor neuron diseases

My research aims to unravel the unique genetic background underlying ALS in the Maltese population. ALS is a progressive neurodegenerative disorder, which leads to patients losing the ability to perform basic tasks, including walking. Therefore, this disease dramatically decreases one’s quality of life. Unfortunately, there is presently no cure for ALS.

The majority of ALS cases are sporadic, meaning that the cause of the disease is unknown. Despite this, genetics has been shown to play a role in sporadic disease. As part of my research, I examine the genetic code of patients suffering from ALS, as well as that of healthy volunteers, in order to determine which genetic defects are unique to patients in the local scenario. Genes which are found to be associated with disease in Malta are then characterised in the fruit fly, with the ultimate aim of generating novel personalised therapeutics for local patients.

The Next step…

Since sporadic ALS arises as a result of an interplay between genetic and environmental factors, future research is focused on determining which environmental factors contribute to disease locally. Preliminary research on this has already yielded promising results1, revealing that Strenuous activity increases ALS risk.

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