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Revision as of 22:19, 12 October 2018
| A1-AT |
Using Stem Cell and CRISPR Technology to Combat Alpha-1 Antitrypsin Deficiency |
ABSTRACT
Alpha-1 Antitrypsin deficiency is a common genetic disorder -- the defective gene for which is carried by 1 in 25 people -- which arises from a single base pair mutation in the SERPINA1 gene, resulting in the production of a form of antitrypsin prone to polymerization. The mutated antitrypsin then builds up in liver cells and is unable to inhibit proteases in the lungs, leading to damage in both. Using CRISPR-Cas9 technology, we aimed to fix the error in SERPINA1 so that proper antitrypsin can be produced. We will show proof of concept in E. Coli cells using osmy secretion tags and GFP as a reporter. We hope to design a liver organ bud using IPS cell technology to deliver function A1AT through collaboration with Dr. Kagimoto of Healios Japan KK.