Title; Lysosomal storage diseases; Basic science for translational research

 

Name; Norio Sakai

Affiliation; Child Healthcare and Genetic Science Laboratory, Division of Health Sciences, Osaka University Graduate School of Medicine

 

 Lysosomal diseases are one of the group of rare diseases which are caused by the impaired function of lysosome. Lysosome is one of the cellular organelle functioning as garbage　disposal plant. However it has more roles in cellular universe controlling many functions including autophagy, endocytosis, program cell death, mitochondrial mechanism and so on.

 I present the talk on the molecular analysis on some of the lysosomal diseases how I approached to the elucidation of the pathology. Main targets of the disease are Krabbe disease and mucolipidosis. I might talk on the research how to clone the gene, how to analyze the genetic abnormality and how to develop the therapy.

 I also would like to try not only talk my story but also discuss how to approach the obstacles with the young audience.