Imagine a tiny hand, barely able to grasp a toy, a hand that should be exploring the world with curiosity and strength, but instead, trembles with weakness. This is the reality for children diagnosed with a rare, aggressive form of ALS, a disease that typically affects the elderly. But what if we told you, right here in Malta, a scientist is battling to change this reality?

Dr. Maria Azzopardi, a neuroscientist at the University of Malta, is on a mission. Her lab, tucked away in the bustling Msida, is a hive of activity, filled with the hum of scientific equipment and the buzz of her dedicated team. But it’s the quiet, determined focus of Dr. Azzopardi that commands attention. She’s not just studying a rare childhood ALS; she’s fighting to save lives, one lab experiment at a time.

“I first encountered this disease while working in the UK,” she recalls, her voice soft yet resolute. “Seeing those children, so full of life, yet trapped in failing bodies… it broke my heart. I knew I had to do something.”

ALS, or Amyotrophic Lateral Sclerosis, is a progressive neurodegenerative disease that affects the nerve cells in the brain and the spinal cord. In children, it’s even more devastating, progressing rapidly and often proving fatal. The form Dr. Azzopardi is researching, known as SPG11, is particularly aggressive and rare, affecting only a few hundred people worldwide, including a handful in Malta.

SPG11 is caused by mutations in the SPG11 gene, but the exact mechanisms of how these mutations lead to ALS are still unknown. Dr. Azzopardi and her team are delving deep into the genetic code, trying to unravel this enigma. They’re using cutting-edge technology, like CRISPR-Cas9, to edit genes and study their effects on motor neurons.

Dr. Azzopardi’s work isn’t just confined to the lab. She’s also collaborating with clinicians at Mater Dei Hospital, ensuring her research translates into practical treatments. “We’re not just studying this disease,” she explains, “we’re fighting it. And we’re getting closer to finding a cure.”

One of her collaborators, Dr. Joseph Caruana, a pediatric neurologist at Mater Dei, echoes her optimism. “Maria’s work is crucial,” he says. “It’s giving hope to families who, until now, had none. We’re not there yet, but we’re making progress.”

Back in her lab, Dr. Azzopardi looks at a petri dish, filled with neurons that could hold the key to saving lives. “This is why I do what I do,” she says, her eyes reflecting a quiet determination. “For every child who deserves a chance to grow up, to grasp life with both hands.”

Dr. Azzopardi’s work is funded through grants and donations. If you’d like to contribute, you can contact the University of Malta’s Research Trust (RIDT) for more information. Every euro brings us one step closer to a cure.