Understanding key to finding cures
Research Highlights
Major advance in gene therapy
Potential for editing genes directly
Improving Diagnosis, biomarkers & drug discovery
Cell morphology & machine learning
Mitochondria affected in SPG11
Altered structure, function & transport found
Challenges in genetic diagnosis of HSP
Improved genetic testing strategies the key
Huge collaboration and “big” data
Combining to solve rare diseases
Potential diagnostic HSP biomarker
Differences with gender and age identified
HSPs include a broad spectrum
Clinical & genetic overlap with Ataxias
Potential new HSP gene
GCH1 gene recommended for HSP panels
HSPer with sleep disorder
Possibly associated with SPG4