TY - CHAP M1 - Book, Section TI - Epigenetics and Clinical Medicine A1 - Alkuraya, Fowzan S. A2 - Murray, Michael F. A2 - Babyatsky, Mark W. A2 - Giovanni, Monica A. A2 - Alkuraya, Fowzan S. A2 - Stewart, Douglas R. PY - 2014 T2 - Clinical Genomics: Practical Applications in Adult Patient Care AB - Epigenetics refers to heritable mechanisms that influence the activity of DNA but do not include the DNA sequence itself.Despite being a relatively young field, epigenetics has provided critical insights into gene regulation and addressed important gaps in our understanding of how static DNA sequence is normally interpreted in a dynamic fashion, both temporally and spatially.Imprinting disorders and cancer are examples of germline and somatic epigenetic disorders, respectively. In addition, there is a growing appreciation of epigenetic consequences of a number of “single” gene disorders such as fragile-X syndrome, Immunodeficiency, centromeric instability and facial anomalies (ICF), and Rett syndrome.The demonstration that the epigenetic signature of a given cell can be completely reversed to the level of pluripotency is the ultimate proof of the plasticity of the epigenome and its candidacy for therapeutic intervention to treat epigenetic disorders and make inroads in regenerative medicine. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/28 UR - accessbiomedicalscience.mhmedical.com/content.aspx?aid=1102707623 ER -