Research

Modern Genetics and Epigenetics
Genetics: The study of genetics is broadly defined as understanding how the sequences encoded in DNA are transferred into information that specifies how cells, tissues, organs and individuals are constructed. The definition reflects the realization that the genetic blueprint is the basis of all life. More than ever, modern genetics, biochemistry, molecular biology and genomics studies suggest that disease and health are controlled by our genes. Everything from predisposition to cancer, to human behavior, to ability to play the piano is likely to be controlled by our genetic makeup. Our understanding of how genes control traits has come from a variety of combined efforts - including study of cultured human cells, creation of animal models of human disease, and studying the structure of human proteins in test tubes. This has all been made possible by the molecular revolution which has given us the power to splice and move genes for study. The ability to identify candidate disease genes in humans and then transfer these genes to animals for study of the disease process has provided important new insights. For these reasons, the rate of discovery has increased rapidly. This, in turn, has led to a dramatic increase in the identification of disease-causing genes and accelerated the effort to design new drugs to target these genes.

Epigenetics: In addition to genetic mutation as a source of disease, recent studies point to a major role for epigenetic regulation in the genesis of a cancer and other diseases. The epigenome includes the proteins that surround the DNA to protect it. These proteins, called histones, also serve as gatekeepers that determine when and if a particular gene is expressed. The “molecular status” of these proteins determines whether the underlying gene will produce a protein. Thus, histones function to “open or close” genes. The pattern of epigenetic regulation markedly influences genetic inheritance and evidence is emerging that cells may be reprogrammed by diet and other factors in a way that predisposes individuals to disease. The study of epigenetic regulation is, therefore, an important avenue for future research.

Discovery
Process of discovery: The process of genetic and epigenetic discovery involves groups of cooperating investigators with wide-ranging expertise. For example, suppose that a particular patient is diagnosed with a disease, and the lead investigator then takes samples of normal and diseased tissue and analyzes the DNA of each sample looking for genes that have undergone mutation. Suppose, then, as if often the case, that a mutated gene is identified and linked to the disease. In the modern genetic research setting, this finding would immediately result in the launch of additional effort on two fronts - disease diagnosis & therapy, and disease understanding. The effort in disease diagnosis is based on the premise that the presence of the mutation will provide a fingerprint to identify and to predict the disease. Thus, the presence of the mutated gene in a normal appearing individual may predict that this individual will develop disease. The second front is identifying the function of the normal gene and how this function is changed in the mutated gene. This effort is pursued by molecular biologists, cell biologists and biochemists who express the gene in cells and animals in an effort to identify its function. Knowing the function is important, because it can lead to the development of new therapies.

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