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.
Parents’ experiences of living with, and caring for children, adolescents and young adults with Mucopolysaccharidosis (MPS)
Many rare diseases of childhood are life-threatening and chronically debilitating, so living with a rare disease is an on-going challenge for patients and their families. MPS is one of a range of rare inherite...
Citation: Orphanet Journal of Rare Diseases 2016 11:138