Specific Aims of this meeting are to: 1.) Emphasize the strategies for, and identify the obstacles to, moving from translational research to clinical trials. 2.) Coalesce members of the LD network into functional research collaborations and to present to the LDN community progress on the specific projects that are part of the funded U54 RDCRN grant. 3.) Foster interdisciplinary collaboration with the overall goal of improving knowledge of basic discoveries and clinical manifestations of these diseases; 4.) Provide an educational forum for young investigators as well as clinicians and researchers in the field. 5.) Identify and discuss the latest findings in the natural history of lysosomal diseases, diagnostic testing and screening, and treatment; with specific focus on: (a) inflammatory components of lysosomal diseases, and autophagy, especially in the central nervous system, (b) new treatments of the central nervous systems, and (c) ethics and efficacy in treating the presymptomatic or asymptomatic patient. 6.) Identify areas requiring additional basic and clinical research, public policy and regulatory attention. such as ethics and economics, factors that impact implementation of therapy, including newborn screening.
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