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.
Dr. David Breault's research has exploited the fact the mouse telomerase (mTert) is a biomarker for embryonic and tissue stem cells. He has developed a streamlined technique for isolating and characterizing adult stem cells from a variety of tissues using genetically engineered reporter mice.
Alan Cantor's laboratory is focused on further elucidating the transcriptional mechanisms that regulate normal hematopoiesis and how they may be perturbed in certain inherited platelet disorders and hematologic malignancies.
Boston Children's Hospital Harvard Medical School Howard Hughes Medical Institute
George Q. Daley, M.D., Ph.D, seeks to translate insights in stem cell biology into improved therapies for genetic and malignant diseases. Important research contributions from his laboratory include the creation of customized stem cells to treat genetic immune deficiency in a mouse model (together with Rudolf Jaenisch), the differentiation of germ cells from embryonic stem cells (cited as a “Top Ten Breakthrough” by Science magazine in 2003), and the generation of disease-specific pluripotent stem cells by direct reprogramming of human fibroblasts (cited in the “Breakthrough of the Year” issue of Science magazine in 2008).
The laboratory research focus is to understand the pathways of how small regulatory RNAs are generated, how they exert their gene regulatory function, and their role in the self-renewal and pluripotency of embryonic stem (ES) cells.
Dr. Notarangelo's research focuses of the characterization of the molecular and cellular bases of congenital immunodeficiencies as illustrated through the study of human patients and of suitable animal models.