Scientific Sessions

Genetics and rare neurological diseases are closely connected, as many uncommon brain and nervous system disorders arise from inherited or spontaneous genetic mutations. These conditions often disrupt critical cellular processes such as protein production, neurotransmitter signaling, or energy metabolism, leading to progressive neurological dysfunction. Examples include Huntington’s disease, spinal muscular atrophy (SMA), Rett syndrome, Batten disease, and various leukodystrophies. While each rare neurological disease may affect only a small number of individuals, together they represent a significant health burden, particularly because they are often chronic, debilitating, and difficult to diagnose. Advances in genetic testing, including whole-genome and exome sequencing, have greatly improved the ability to identify these disorders, enabling earlier and more accurate diagnosis.

Treatment of rare neurological diseases remains a major challenge, as most conditions currently lack curative therapies. Management often focuses on alleviating symptoms, slowing disease progression, and improving quality of life through multidisciplinary care involving neurologists, geneticists, physiotherapists, and psychologists. However, the field is rapidly evolving, with gene therapy, RNA-based treatments, and precision medicine offering new hope for patients. For instance, therapies designed to replace defective genes or silence harmful mutations have shown promise in conditions like SMA and certain leukodystrophies. Research into rare diseases also benefits the wider medical community, as insights gained often contribute to understanding more common neurological disorders. As genetic science continues to advance, the potential for personalized therapies and improved outcomes for individuals with rare neurological diseases is becoming increasingly attainable, marking a transformative era in neurogenetics.