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- EIN 46-5727883
- (415) 255-7666
- 873 Santa Cruz Ave Ste 200 Menlo Park CA 94025-4635 USA
- www.gracescience.org
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Nonprofit Overview
Causes: Health, Medical Research
Mission: The mission of the foundation is to support and fund the development of life-saving treatment for patients that are deficient in the n-glycanese enzyme and those suffering from related genetic diseases. The activities of the foundation will involve providing grant funding to hospitals and medical research facilities which are conducting medical research in various fields relating to the search for understanding and treatment of this condition, and fostering collaboration between academia, research institutions, hospitals, private companies, and governmental agencies.
Programs: Stanford university (steinmetz lab) - team used a system genetics approach to investigate the mechanisms behind ngly1 deficiency. They developed and launched high throughput screening for genes and compounds that influence ngly1 deficient cells, defined therapeutic and molecular intervention points, and characterized ngly1 deficient cells on a molecular basis. Team is now working to disseminate the data already gathered and expanding the findings they have already made.
massachusetts general hospital - team completed large-scale genetic screens for modifiers of proteasome dysfunction in png-1/ngly1 deficient c. Elegans. These screens identified conserved genes that are possible therapeutic targets for treatment of ngly1 deficiency and likely other diseases of proteotoxic distress. The team also continued experiments aimed at understanding png-1 suppressors' mechanism(s) of action. In addition, the lab generated transgenic animals that express an engineered skn-1a that bypasses the requirement for deglycosylation by png-1. The analysis of these animals provides new evidence that defects resulting from png-1 / ngly1 deficiency may be entirely explained by failure to activate skn-1a/nrf1.
stanford university (bertozzi lab) - team uncovered an interesting phenotype of ngly1 deficient stem cells that could be amenable to high-throughput screens for corrective therapies (both small molecule and gene-based approaches). This phenomenon may explain various human pathologies of tissues derived from neural crest. In addition, team made progress screening small molecules for compensation of defects in nrf1-mediated cytoprotection. Team completed a final set of experiments in zebrafish ngly1 models to determine whether there were functional phenotypes worth pursuing in an effort to better understand the human disease. Team concluded that this model should not be prioritized (at least not in this lab). Finally, the bertozzi lab developed a system for ngly1-associated proteins (substrates) in cells. This platform should be useful for identifying ngly1 substrates in an unbiased manner.