• Source: Scopus
20022020

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Research interests

A unique characteristic of tissue stem cells is the ability to self-renew, a process that enables the life-long maintenance of many organs. Stem cell self-renewal is dependent on the synthesis of telomere repeats by the enzyme telomerase. Defects in telomerase and in telomere maintenance genes result in diverse disease states, including dyskeratosis congenita, pulmonary fibrosis, aplastic anemia, liver cirrhosis and cancer. Many of these disease states share a tissue failure phenotype, such as loss of bone-marrow cells or failure of pulmonary epithelium, suggesting that stem cell dysfunction is a common pathophysiological mechanism underlying these telomere diseases. My lab is interested in deciphering the molecular mechanisms behind telomere-induced stem cell disease and for that we are using a variety of methods, from classic biochemistry to recently developed gene targeting techniques, to understand and restore telomere homeostasis in human stem cells with deficient telomerase. Our goal is to provide the molecular knowledge necessary for new treatment options for these syndromes.

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