Description of Invention: Niemann-Pick disease (NPD) refers to a group of fatal inherited metabolic disorders. Children with type A or B NPD usually die within the first few months or years of life, while NPD type C progresses more slowly, and affected individuals may survive into their seventies. The lifespan of patients with NPD is related to the age of onset. At present, however, there is no effective diagnostic method to predict the age of NPD disease onset.
The instant invention presents diagnostic compositions and efficient methods for predicting the age of onset of a lysosomal storage disease (e.g., NPD) and of diseases associated with lysosomal of autophagic defects (e.g., Parkinson's disease and Alzheimer's disease) in patients. It can also be used to screen for agents useful in treating NPD patients.
Predicting the age of disease onset in patients with Niemann-Pick disease, and other diseases associated with lysosomal or autophagic defects.
Identifying agents for treating NPD patients.
Advantages: A new method for predicting the age of NPD disease onset.
Collaborative Research Opportunity: The National Human Genome Research Institute (NHGRI) is seeking statements of capability or interest from parties interested in collaborative research to further develop, evaluate or commercialize diagnostic methods for predicting the age of onset of lysosomal disorders, such as NPD and Parkinson's. For collaboration opportunities, please contact Dr. William J. Pavan at email@example.com .
For Licensing Information Please Contact: Betty Tong Ph.D. NIH Office of Technology Transfer 6011 Executive Blvd. Suite 325, Rockville, MD 20852 United States Email: firstname.lastname@example.org Phone: 301-594-6565 Fax: 301-402-0220