The Therapeutic Potential of Human Induced
Pluripotent Stem Cells (IPSCs) in the Sandhoff
Disease
Mouse Model of Lysosomal Storage Disorders.
Description: This cutting-edge project will investigate the mechanisms of a new type of stem cells: induced pluripotent stem (IPS) cells.
Benefit: If IPS derived cells could be used for therapy that would be a major step forward, as it takes away the problem of tissue rejection and the problem of working with embryonic stem cells.
Look in our library for the 6 month progress report.
Look in our library for the 12 month final report.
Developing a High Throughput Screening Assay to
Identify Potential Drugs for Metachromatic
Leukodystrophy (2-year grant)
Description: This grant is based on the principle that small molecules can enhance residual
enzyme activity in patients with lysosomal storage diseases (LSD’s). Through high throughput screening, candidate compounds for metachromatic leukodystrophy will be identified.
Benefit: The cell-based assay will also indentify small molecules that could have broader application for treatment of other LSD’s.
Look in our library for the 12 month progress report.
Sheep as a Model of Tay-Sachs Disease
(Tay-Sachs
Gene Therapy Consortium)
Description: Characterization of disease progression in Tay-Sachs disease sheep and treatment the sheep with AAV vectors).
Benefit: The sheep is the first true Tay-Sachs disease animal model (as the mouse and cat models are Sandhoff disease models). Also, the large sheep brain is closer in size to the human brain. Therefore, the current proposal is an essential step to test promising therapeutic strategies.
Look in our library for the 12 month progress report.
Look in our library for the year 2 progress report.
Optimizing the Therapeutic Potential of
Anti-inflammatory Therapy in Tay-Sachs and
Related Diseases: Targeting IL-1ß Generated
by Aberrant NLRP3 Inflammasome Activation (2-year grant)
Description: Develop a mouse model of Sandhoff disease that lacks a particular receptor and use various analyses to determine the degree of anti-inflammatory benefit achieved in these mice, which will define the mechanism that triggers inflammation.
Benefit: This grant addresses a significant problem involving
ganglioside-associated neuro-inflammation. Clinical trials could proceed quickly if confirmation of a particular inflammatory mechanism can be confirmed.
Look in our library for the 18 month progress report.
Look in our library for the final summary.
Development of an in vitro approach to identify
molecular pathways of Canavan disease (2-year grant)
Description: The investigator will use a mouse model of Canavan disease to study the molecular pathways in Canavan disease.
Benefit: The project has a high likelihood of enhancing our knowledge of Canavan disease which will help develop therapies in the future.
Look in our library for the 18 month progress report.
