Lysosomal diseases are under-recognized conditions, often leading to significant diagnostic delays that place undue burden on families. Improvements in biochemical and genetic technologies continue to further the technology available in the field and have contributed to the advancement of techniques such as newborn screening and DNA analysis. However, even as the technical tools and diagnostic implements have improved, the investment in, and improved knowledge of, those individuals who diagnose childhood disease has tended to lag behind. The result is that while interest inand ability to treatlysosomal conditions has improved dramatically over the past two decades, the path to diagnosis has not become significantly altered. Further, the fostering of those with an inherent interest in lysosomal conditionsand rare diseases in generalcan get lost in the practicalities of medical training. In order to support the educational goals of those with an interest in lysosomal disease, the Lysosomal Disease Network has implement two major educational/training activities. The first of these is a commitment to provide fellowships for two qualified (postdoctoral level) individuals each year. These """"""""Lysosomal Disease Network Fellows"""""""" will be provided a stipend that allows them to pursue a clinical research project in the field. In addition to the execution of a project vetted by the Training/Education Unit PI, these fellows will also be expected to attend WORLD Symposium Lysosomes 101, the biennial Clinical Conference on Rare Disease Research, and other educational events as appropriate. They will present the outcomes of their research at these conferences. The second major component of the Network Training Unit is the annual WORLD Symposium. The Symposium provides travel grants to young investigators interested in lysosomal conditions. The Training/Education Unit is led by Dr. Patterson who will assist Drs. Whitley and Cloyd.

Public Health Relevance

In order to foster an interest in lysosomal diseases, the Lysosomal Disease Network intends to educate and advise those who have an interest in working with patients diagnosed with one of these conditions. Because lysosomal diseases affect just about every major organ system in the body, people with varied medical specialties will find working in this field interesting. Our goal is to provide qualified mentors who can train others and provide the infrastructure necessary to pursue a career in this field.

National Institute of Health (NIH)
National Institute of Neurological Disorders and Stroke (NINDS)
Specialized Center--Cooperative Agreements (U54)
Project #
Application #
Study Section
Special Emphasis Panel (ZTR1-CI-8 (01))
Program Officer
Morris, Jill A
Project Start
Project End
Budget Start
Budget End
Support Year
Fiscal Year
Total Cost
Indirect Cost
University of Minnesota Twin Cities
United States
Zip Code
Ou, Li; Przybilla, Michael J; Whitley, Chester B (2018) Metabolomics profiling reveals profound metabolic impairments in mice and patients with Sandhoff disease. Mol Genet Metab :
McIntosh, Paul T; Hobson-Webb, Lisa D; Kazi, Zoheb B et al. (2018) Neuroimaging findings in infantile Pompe patients treated with enzyme replacement therapy. Mol Genet Metab 123:85-91
Nestrasil, Igor; Ahmed, Alia; Utz, Josephine M et al. (2018) Distinct progression patterns of brain disease in infantile and juvenile gangliosidoses: Volumetric quantitative MRI study. Mol Genet Metab 123:97-104
Ou, Li; Przybilla, Michael J; Koniar, Brenda et al. (2018) RTB lectin-mediated delivery of lysosomal ?-l-iduronidase mitigates disease manifestations systemically including the central nervous system. Mol Genet Metab 123:105-111
Desai, Ankit K; Walters, Crista K; Cope, Heidi L et al. (2018) Enzyme replacement therapy with alglucosidase alfa in Pompe disease: Clinical experience with rate escalation. Mol Genet Metab 123:92-96
Sindelar, Miriam; Dyke, Jonathan P; Deeb, Ruba S et al. (2018) Untargeted Metabolite Profiling of Cerebrospinal Fluid Uncovers Biomarkers for Severity of Late Infantile Neuronal Ceroid Lipofuscinosis (CLN2, Batten Disease). Sci Rep 8:15229
Shapiro, Elsa G; Whitley, Chester B; Eisengart, Julie B (2018) Beneath the floor: re-analysis of neurodevelopmental outcomes in untreated Hurler syndrome. Orphanet J Rare Dis 13:76
Ou, L; Przybilla, M J; Whitley, C B (2018) SAAMP 2.0: An algorithm to predict genotype-phenotype correlation of lysosomal storage diseases. Clin Genet 93:1008-1014
Eisengart, Julie B; Rudser, Kyle D; Xue, Yong et al. (2018) Long-term outcomes of systemic therapies for Hurler syndrome: an international multicenter comparison. Genet Med 20:1423-1429
Kazi, Zoheb B; Desai, Ankit K; Troxler, R Bradley et al. (2018) An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe disease. Genet Med :

Showing the most recent 10 out of 118 publications