Weekly Spotlight - 14.11.24

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In the News

Gene Variations Influence Spinal Muscular Atrophy Progression and Severity

Variations in genes related to inflammation, neurodevelopment, and oxidative stress influence spinal muscular atrophy (SMA) severity and onset. This study highlights the potential for personalised therapies by examining genetic pathways. Findings suggest genetic variability could guide future treatments, offering hope for improved outcomes for SMA patients.

Zolgensma Gene Therapy Transforms SMA Outcomes in Infants

Zolgensma gene therapy is most effective for presymptomatic infants with spinal muscular atrophy (SMA) when administered within six weeks of birth. This early treatment leads to better motor, respiratory, and nutritional outcomes. The study highlights the importance of newborn screening for timely intervention and improved quality of life.

Gene Therapy Safety in Spinal Muscular Atrophy: A Case Study Analysis

The study explores the safety of gene therapy for spinal muscular atrophy in infants. It finds that elevated liver enzymes post-treatment normalise within three months, suggesting early intervention is safe. Combining therapies does not affect safety, potentially improving outcomes. This research offers hope for affected families.

Carlo Rinaldi Honoured for Rare Disease Research and Leadership

Dr. Carlo Rinaldi, now a Professor at Oxford, is recognised for his work in neuromuscular disease research. As a Rare Disease Scholar, he receives support to develop treatments for rare diseases. His focus is on scalable therapies, aiming to accelerate patient care advancements.