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Two Research Grants Approved to Help Late Onset Tay Sachs

Published by Huffington Post on Tue, 16 Jun 2015

Working with National Tay Sachs and Allied Diseases (NTSAD), we have approved two research grants from the Katie & Allie Research Fund:1. Late Onset Registry and Repository -- with Dr Eichler at Massachusetts General. Evaluations of patients will be used to determine outcome measures for change and variability. This will create clinical outcome measures and biomarkers for clinical trial readiness, necessary to show effect of any experimental therapy.2. Generation of a knock-in mutant HexB mouse model with Eric Sjoberg, Phd, OrPhi Therapeutics. This project supports the development of a mouse model for Late Onset Tay Sachs and Sandhoff diseases. This new model will be used to study pharmacological chaperones which will help the enzyme degrade the stored material which is causing the degeneration of nerves. The project will look for increased enzyme activity and reduced ganglioside storage in the brain.Thanks to all of you we have been able to get these two projects approved in just six months. We have more work to do and more research to fund. Please share this link if you think your friends will be interested in donating to this worthwhile cause for my children and countless other children suffering with this disease:http://www.ntsad.org/index.php/allie-katie-buryk-research-fundThank you -- This feed and its contents are the property of The Huffington Post, and use is subject to our terms. It may be used for personal consumption, but may not be distributed on a website.
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