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BUSM awarded $9 million to investigate treatment for sickle cell disease using iPS cells
Date:7/25/2011

rts sickle hemoglobin polymerization. Not all patients respond to this treatment, so additional HbF inducing drugs are needed.

"This funding will allow us to create the largest library of sickle cell disease-specific iPS cell lines in the world," said Murphy, assistant professor of Medicine and Hematology-Oncology at BUSM. "It enables the creation of an in vitro system for the study of sickle cell anemia in the exact genetic context of the patients."

Using a novel excisable reprogramming vector, they will generate 'clinical grade' human iPS cells free of any residual reprogramming transgenes. These directly differentiated sickle iPS cells will be used to produce an unlimited supply of erythroid-lineage cells to better understand HbF genetic regulation and perform pre-clinical small molecule drug screens.

"These studies will illuminate how specific genes behave in different tissues and should clarify the mechanisms by which a gene associated with a disease affects the biology of different tissues," said Susan B. Shurin, MD, acting director of the National Institutes of Health's (NIH) NHLBI, which is funding most of the studies. "Understanding the cellular and tissue biology will allow us to develop and test new therapies and prevention methods. These approaches using iPS cells on a large scale could improve the predictive value of preclinical testing, benefit regenerative medicine and reduce the need for animal models of disease."

"We have an opportunity here to study tissue-specific cells on a large scale, including how gene variants are expressed and alter a tissue's behavior," said Cashell Jaquish, PhD, a program officer in the NHLBI's Division of Cardiovascular Sciences. "That is something we haven't been able to get near before" because the technology was not available. The opportunities are great because genome-wide association studies have identified multiple potentially important genetic variants, she added.

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Contact: Jenny Eriksen Leary
jenny.eriksen@bmc.org
617-638-6841
Boston University Medical Center
Source:Eurekalert

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