Suneet Agarwal MD PhD

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Modeling congenital bone marrow failure syndromes using pluirpotent stem cells

Certain genetic disorders cause widespread disease in the body, but the principle reason for illness and death in early childhood is failure of the blood system.  We would like to study these genetic blood disorders by “turning back the clock” – using new technology in stem cell biology to take skin cells from patients with genetic blood disorders and return them to an embryonic-like state, wherein they regain the ability to form any type of cell in the body.  We believe that studying this process of going back to an embryonic-like state, and then seeing how the cells develop into different tissues (blood cells, muscle, nerves, etc.), will lead to a better understanding of what is going wrong in cells carrying these disease-causing mutations.  We hope that the knowledge gained through this work will provide innovative therapies – using novel medications or perhaps even one’s own cells - for patients with genetic blood disorders, and will help develop similar strategies for patients with other rare disorders.

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