Topic: Spinal Muscular Atrophy

Basic research, technological advances and clinical observations can converge to produce major therapeutic breakthroughs. Examples from lung cancer, spinal muscular atrophy and hemophilia illustrate how curiosity-driven science contributed to medicines including osimertinib, risdiplam and emicizumab. The lecture follows discoveries across the decades between initial biological insights and effective treatments, examining the persistence, unexpected findings and collaboration across disciplines that made these advances possible. It considers how biological, clinical and technological research c

Vaccinia-related kinase 1 (VRK1) is a predominantly nuclear serine/threonine kinase implicated in nucleus disassembly and reassembly, cell cycle, and transcription regulation. VRK1 mutations in humans have been linked to several neurodegenerative diseases, including spinal muscular atrophy associated with microcephaly and impaired cognitive and motor function. Thus, it has been identified as potentially involved in the maintenance and development of the nervous system. However, precise pathophysiological mechanisms and VRK1 involvement in cognitive and motor dysfunction progression have yet to

Spinal muscular atrophy (SMA) is a rare neuromuscular disease caused by a homozygous deletion of the SMN1 gene. The resulting lack of survival motor neuron (SMN) protein leads to progressive muscle weakness and often respiratory insufficiency. There is unmet need for reliable biomarkers to predict disease severity, prognosis, and treatment effect in patients with SMA. Nusinersen is an antisense oligonucleotide that leads to an increased SMN protein production by the SMN2 genes and has been shown to be effective in children and adults with SMA. Previously, we have shown that neurofilament (NF)

Spinal muscular atrophy (SMA) is a neurodegenerative disease characterized by spinal cord and brainstem motor neuron (MN) loss. Axonal transport defects are a common hallmark of MN degeneration and KIF5A, a major component of the axonal transport machinery, has been associated with MN diseases, but its role in SMA has not been elucidated yet. Our aim was to investigate a possible correlation between KIF5A and SMA pathogenesis. Therefore, Western Blot, qRT-PCR and immunohistochemistry analysis were performed to investigate KIF5A and its adaptor protein complex Miro1/Milton expression in the spi

Objectives To determine whether plasma neurofilament light chain (pNfL) can be a reliable and minimally invasive biomarker for monitoring response in children with later-onset spinal muscular atrophy (SMA) undergoing nusinersen treatment.Methods Neurofilament light chain(NfL) levels were measured from plasma(pNfL) and cerebrospinal fluid (cNfL) of 40 children with later-onset SMA undergoing nusinersen treatment. A total of 480 CSF and plasma samples were taken during the first six doses of treatment from April 2021 to February 2023. Correlational analyses was used to determine the relationship