In a groundbreaking effort to combat the devastating effects of Spinal Muscular Atrophy (SMA), Dr. Jean Giacomotto from the Griffith Institute for Drug Discovery (GRIDD) has secured critical support from the Australian Functional Genomics Network (AFGN) to establish much-needed diagnoses for patients at risk of this debilitating genetic condition which leads to muscle atrophy due to motor neuron degeneration.

Dr Jean Giacomotto.
Dr Jean Giacomotto

Recently, the AFGN and Hunter Genetics reached out to Griffith after identifying a newborn at risk of developing SMA due to a novel mutation of unclear pathogenicity, referred to as a Variant of Uncertain Significance (VUS). Currently, clinicians face the challenge of determining whether the patient will develop SMA before the first symptoms appear, typically around 10 months or later.

Early intervention is critical, as an existing treatment must be implemented before symptoms arise to prevent irreversible damage. 

Dr. Giacomotto and his team at GRIDD are one of the few worldwide able to confirm the pathogenicity of novel variants. They have successfully established a research system reproducing the disease in a fish, the zebrafish. Their cutting-edge model will be essential to determining the pathogenicity of this novel variant, providing timely and accurate insights essential for clinical decision-making.  

The results from Dr. Giacomotto’s model could directly impact clinical practices and patient treatment, offering hope and potentially life-changing outcomes for those affected by SMA.

3: Good Health and Well-being
UN Sustainable Development Goals 3: Good Health and Well-being