UM study helps uncover new genetic causes of ALS

VALLETTA (MALTA) (ITALPRESS/MNA) – University of Malta researchers have contributed to a landmark international study that identified new genetic causes of amyotrophic lateral sclerosis (ALS), advancing understanding of the incurable neurodegenerative disease.

The findings showed that a genetic cause can now be identified in around one in four ALS patients, improving on previous estimates of one in five.

Researchers also discovered several previously unknown genetic alterations linked to the disease.

ALS affects motor neurons in the brain and spinal cord, causing progressive muscle weakness, paralysis and eventual death, often within a few years of diagnosis.

The study found that ALS is frequently caused not by a single faulty gene but by a combination of smaller genetic changes that together increase disease risk.

Professor Ruben J. Cauchi, head of the Motor Neuron Disease Laboratory at the University of Malta, described the findings as “an important step forward in uncovering the genetic complexity of ALS”.

“Such insights are essential if we are to develop targeted therapies that can make a real difference to patients,” he said.

Malta has one of Europe’s highest ALS incidence rates, with around 17 people currently living with the disease and about one new diagnosis recorded each month.

Previous studies involving Maltese patients had already revealed distinct genetic patterns, highlighting the importance of including diverse populations in global research.

The latest study analysed genetic data from thousands of ALS patients, including samples from Malta’s national ALS DNA bank.

Published in the journal Nature Genetics, the research formed part of the global Project MinE initiative led by University Medical Centre Utrecht and international partners.

The University of Malta’s participation was supported by the Xjenza Malta Research Excellence Programme, Rotary Club La Valette and the Anthony Rizzo Memorial ALS Research Fund.

– Photo IPA Agency –
(ITALPRESS).

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