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.

Agency
National Institute of Health (NIH)
Institute
National Institute of Neurological Disorders and Stroke (NINDS)
Type
Specialized Center--Cooperative Agreements (U54)
Project #
2U54NS065768-06
Application #
8918188
Study Section
Special Emphasis Panel (ZTR1-CI-8 (01))
Program Officer
Morris, Jill A
Project Start
Project End
Budget Start
2014-09-30
Budget End
2015-07-31
Support Year
6
Fiscal Year
2014
Total Cost
$83,600
Indirect Cost
$28,600
Name
University of Minnesota Twin Cities
Department
Type
DUNS #
555917996
City
Minneapolis
State
MN
Country
United States
Zip Code
55455
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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