Aberrations in telomere biology are well recognized as a potent inducer of human disease. Telomeres, long nucleotide repeats bound by a protein complex are critical for the maintenance of chromosomal integrity. Inefficient telomere maintenance is linked to a large number of human diseases, including bone marrow failure, pulmonary fibrosis, live cirrhosis and cancer. In addition, telomere shortening is intrinsically connected to physiological aging in humans.
The overarching goal of research in the Batista Lab is to understand the role of telomere dysfunction in human disease, cancer and aging. Our laboratory uses genome-wide methods to uncover alterations that drive cellular failure upon progressive telomere dysfunction, using human pluripotent cells (including both embryonic and induced pluripotent stem cells) as a primary model. We combine in vitro biochemical and mechanistic studies with our ability to generate and differentiate human pluripotent stem cells to better understand the importance of telomere maintenance in humans and to determine the events that lead from telomere shortening to disease in humans.