Joseph Kaserman, MD
|Institution||Boston University School of Medicine|
|Division||Pulmonary, Allergy, Sleep & Critical Care Medicine|
|Address||72 East Concord Street, R-304 |
Boston MA 02118
Alpha1 antitrypsin deficiency is the most common cause of hereditary liver disease, however, only about 10% of patients with the mutation develop liver disease. The mechanism for why certain patients develop liver disease remains poorly understood. Using hiPS cells we will correct the Z AAT mutation using the CRISPR/Cas9 system to compare syngeneic daughter clones. This will reduce variation due to other genetic differences allowing for a more precise evaluation of the effects from the mutant protein and allow for the creation of a disease signature.
- Alpha1 Antitrypsin Deficiency
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