Dr. Chester B. Whitley is the Principal Investigator of this project. His responsibilities will include the overall direction and vision of the Lysosomal Disease Network, acting as both scientific and administrative leader of the Network. He will supervise Ms. Diethelm-Okita and Mr. David Erickson. He will work with all Principal Investigators to ensure a timely start and a maintenance of activities for each project. He will work with the projects to develop synergy and focus for the Network. He will chair the Lysosomal Steering Committee and direct the WORLD symposium meetings. Dr. Whitley is a Professor in the Department of Pediatrics and responsible to Dr. Aaron Friedman, head of Pediatrics. Dr. Elsa Shapiro is the Co-Principal Investigator of this project. As such, her responsibilities will be as a back-up to Dr. Whitley in providing scientific and administrative leadership. In addition, she will supervise the Core activities and ensure that their activities are tied to the individual projects. Dr. Shapiro is a Professor in the Department of Pediatrics and responsible to Dr. Aaron Friedman, head of Pediatrics Ms. Brenda Diethelm-Okita, Administrative Coordinator will provide interface between the administrative core and individual projects;she will manage communication flow between projects and with the coordinating center. She will edit the monthly newsletter to LDN members. She will monitor human subjects issues for all projects;she will be the liaison to patient advocacy groups and industry. She will manage proposal applications for pilot studies. She will be the administrator for the Steering Committee and the Scientific Advisory Committee. She will be responsible for database management and documentation of budgetary outflow as well as communicating with financial managers. Mr. David Erickson, will coordinate Informatics for the Network. He will maintain and update the web-site;manage data inflow and outflow, interface with the DMCC;manage publication and information assets;fulfill IT responsibilities for servers;assist in coordinating conformity of all sites to common data and document formats. Governance: A senior Scientific Advisory Committee (SAC) will oversee the scientific aspects of the Network (Brady, Neufeld, Sly, Grabowski, Medin, and Keutzer);yearly evaluation of the scientific progress of each of the longitudinal studies and the pilot studies. They will have ultimate authority on governance, especially with regard to administrative issues. With the advice of the Steering Committee, they will decide on termination and funding of studies within the network. The LDN Steering Committee (Whitley, Shapiro, Grabowski, Pastores, Steiner, Walkley, Davidson, Barranger, Wedehase, Wilcox) will have a more active role in the running of the Network. Meetings regarding network problems and decisions will take place in monthly teleconferences, a mechanism that has been in place since 2005. They will meet in person yearly at the WORLD symposium and possibly a second time at the ASHG meetings. Decisions about site visits, changes in policy and direction, and progress of individual projects will be discussed regularly and recommendations sent to the SAC. LDN Steering Committee members will serve continuously through the grant period but can be asked to leave if they do not participate. Proposed new members of the Steering Committee need the majority approval of both the Steering Committee and SAC. The WORLD Symposium is an integral part of the LDN. It serves as a venue for presentation of research activities in the Network as well as basic science research that will provide the foundation for future clinical applications. It serves as a meeting place for the investigators, for members of the Network, for patients and their families, and for industry. It serves as a site for administrative activities such as meetings of the SAC and the LDN Network Steering Committee, and for the business meeting of the full membership of the LDN. Further description can be found in the Introductory section. The diagram in Figure 1 portrays the Administrative Core.

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 (ZRG1-HOP-Y)
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
Mauer, Michael; Glynn, Emily; Svarstad, Einar et al. (2014) Mosaicism of podocyte involvement is related to podocyte injury in females with Fabry disease. PLoS One 9:e112188
Rumsey, Robin K; Rudser, Kyle; Delaney, Kathleen et al. (2014) Acquired autistic behaviors in children with mucopolysaccharidosis type IIIA. J Pediatr 164:1147-1151.e1
Schiffmann, Raphael; Forni, Sabrina; Swift, Caren et al. (2014) Risk of death in heart disease is associated with elevated urinary globotriaosylceramide. J Am Heart Assoc 3:e000394
Polgreen, Lynda E; Thomas, William; Fung, Ellen et al. (2014) Low bone mineral content and challenges in interpretation of dual-energy X-ray absorptiometry in children with mucopolysaccharidosis types I, II, and VI. J Clin Densitom 17:200-6
Polgreen, Lynda E; Thomas, William; Orchard, Paul J et al. (2014) Effect of recombinant human growth hormone on changes in height, bone mineral density, and body composition over 1-2 years in children with Hurler or Hunter syndrome. Mol Genet Metab 111:101-6
Stevenson, David A; Rudser, Kyle; Kunin-Batson, Alicia et al. (2014) Biomarkers of bone remodeling in children with mucopolysaccharidosis types I, II, and VI. J Pediatr Rehabil Med 7:159-65
Prater, Sean N; Banugaria, Suhrad G; Morgan, Claire et al. (2014) Letter to the Editors: Concerning "CRIM-negative Pompe disease patients with satisfactory clinical outcomes on enzyme replacement therapy" by Al Khallaf et al. J Inherit Metab Dis 37:141-3
Schiffmann, Raphael; Mayfield, Joan; Swift, Caren et al. (2014) Quantitative neuroimaging in mucolipidosis type IV. Mol Genet Metab 111:147-51
Wang, Raymond Y; Braunlin, Elizabeth A; Rudser, Kyle D et al. (2014) Carotid intima-media thickness is increased in patients with treated mucopolysaccharidosis types I and II, and correlates with arterial stiffness. Mol Genet Metab 111:128-32
Ahmed, Alia; Whitley, Chester B; Cooksley, Renee et al. (2014) Neurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the *-L-iduronidase gene in Hurler-Scheie syndrome. Mol Genet Metab 111:123-7

Showing the most recent 10 out of 34 publications