This section aims to allow timely communication on diseases associated with lysosomal dysfunction, including topics on lysosome biogenesis, pathophysiology and putative therapeutic options. Although previously viewed as a terminal compartment for the degradation of macromolecular by-products of cellular turnover, a central role for the lysosome is increasingly acknowledged, including recently identified tasks in nutrient sensing; occurring in a coordinated fashion with autophagic pathways. Insights into pathophysiology are revealing potential shared mechanisms of disease with other more common neurodegenerative conditions seen in an aging population, such as Parkinson's and Alzheimer's disease. Studies in animal models have been invaluable in identifying potential therapeutic options that hopefully will advance the care of affected patients. The blood brain barrier remains a challenge which needs to be addressed, to enable transformative therapies which can gain access to vulnerable neuronal populations for disease subtypes associated with primary CNS involvement. Submissions that relate to the clinical manifestations, underlying biochemical, and molecular changes associated with defined clinical entities, animal model studies, therapeutic outcomes, and novel treatment strategies, will be considered. In addition, studies on societal impact of treatments including cost-effectiveness analyses will be considered.
Identification of risk features for complication in Gaucher’s disease patients: a machine learning analysis of the Spanish registry of Gaucher disease
Since enzyme replacement therapy for Gaucher disease (MIM#230800) has become available, both awareness of and the natural history of the disease have changed. However, there remain unmet needs such as the iden...
Citation: Orphanet Journal of Rare Diseases 2020 15:256
