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Development and genetic repair of induced pluripotent stem cells in RDEB

Completed
Project leadProf. Josef Penninger
Organisation IMBA Institute of Molecular Biotechnology, VIENNA
Project budgetEUR 480,000.00
Start date / Duration01. Nov 2009 / 34 months
Funder(s) / Co-Funder(s) DEBRA Austria
Research area Cellular therapy

Project details

Short lay summary

In November 2007, research groups in Japan and the Unites States announced that they had converted ordinary skin cells into a stem cell like state know as induced pluripotent stem (iPS) cells. These cells appear to behave as embryonic stem cells, with the ability to transform themselves into virtually any tissue of the body creating tailor-made cell lines to study human disease and to test possible treatments. Thus, under the right conditions one can create new skin cells, cardiac cells for faulty heart, or new pancreatic cells for diabetes. In particular, such iPS cells could be used to possible repair rare genetic diseases such as epidermolysis bullosa (EB). The generation of iPS cells from a patient's own skin fibroblasts would potentially allow for a plentiful and renewable source of cell therapeutics for autotransplantation and would likely mitigate the problem of immune rejection. Moreover, such cells can be used to repair the disease-causing genetic defects. Furthermore, iPSCs technology largely circumvents political, ethical, and logistical roadblocks previously associated with human stem cell technologies.

 

Strategic relevance

iPSCs can be developed from individual patients, maintained for many years in large numbers, and can be used to repair specific gene defects. Since “repaired” iPSCs can be differentiated back into certain tissues, e.g. skin cells, they carry the promise to revolutionize cellular therapies for diseases with defined genetic mutations, such as in EB. We have already established iPSCs from human EB patients and from mice that also develop an EB-like syndrome. We now propose to develop novel and safe ways to reprogram patient cells into iPSCs. In such cells, we will utilize a novel, rapid, and highly efficient novel technology (called TALEN) to repair the underlying genetic defects. We will test the feasibility of such approach in a defined mouse model for EB, where we can develop iPSCs, repair the defect, and then directly test various treatment regiments, e.g. in vitro development of new skin that is then transplanted or local and systemic injection of committed progenitor cells.

What did this project achieve?

The reason to propose iPSCs as therapy for EB patients is that such cells are patient specific, we can repair the underlying genetic defects in a scenario where we then select and grow a “genetically repaired” cell clone where every single cell carries a normal gene and we have in essence an unlimited number of cells that can be differentiated in defined cell lineages, such as skin cells. Thus, although “multiple hills need to climbed”, iPSCs provide a potential avenue for a cure.


Keywords

Penninger
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