Lysosomal diseases are rare, heterogeneous conditions affecting individuals over a dispersed geographic area. In order to facilitate research serving this unique population the Administrative Unit of the Lysosomal Disease Network will serve several important functions. Composed of five "Cores:" Administrative, Biostatistical, Neurobehaviroal, Neuroimaging, and Pharmacotherapy;the Units responsibilities are varied. The Administrative Unit will facilitate any communicationincluding go-to-meeting style web conferencesacross the Network. Members will assist all project PIs with regulatory and administrative responsibilities, including acting as liaison between PI and the DMCC. A newsletter will also be developed by members of this unit to highlight research and other accomplishments across Consortia. The Biostatistical Core has helped each PI with a proposed project in the development of the statistical needs for their work. With rare disease populations accurate statistical measurements are crucial and this core has the required expertise. Since almost all lysosomal conditions have component central nervous system disease the neuroimaging and neurobehavior cores provide essential consultation for all projects. In the first five years of this consortium, both cores made seminal discoveries regarding brain structure and function in lysosomal disease. New to the consortium this year is the Pharmacotherapy Core. Experts in the field of therapeutic development will be available to all members of the Network. Currently, all studies with treatment or other therapeutic regimens have consulted with the Core. All members of the Administrative Unit will assist the Training Unit in the implementation of new projects nad the mentoring of trainees.

Public Health Relevance

The Administrative Unit of the Lysosomal Disease Network will facilitate any and all core functions for all members of the Network. The Unit provides administrative, statistical, therapeutic, behavioral, and neurologic support. All members of the Unit will work with other project team members to successfully implement the goals of their individual projects

National Institute of Health (NIH)
National Institute of Neurological Disorders and Stroke (NINDS)
Specialized Center--Cooperative Agreements (U54)
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Special Emphasis Panel (ZTR1-CI-8 (01))
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Morris, Jill A
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University of Minnesota Twin Cities
United States
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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

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