Molecular medicine is a field of science in which researchers use basic knowledge about the molecular biology of cells and diseases to develop treatments, therapies, and drugs. Molecular medicine often focuses on developing specific treatments for diseases that result from abnormal genes or the abnormal function of genes. Scientists know that certain hereditary diseases, such as cystic fibrosis, hemophilia, and sickle-cell disease, are caused by a single abnormal gene. Researchers also know that genetic variation and abnormalities have a role in the development and progression of many other diseases.
In the early 2000’s, the Human Genome Project (HGP) completed the sequencing of essentially the whole human genome, which is the entire set of chemical instructions that control heredity in a human being. The HGP has allowed scientists to identify errors in specific genes that cause or contribute to human disease.
Through the HGP, scientists have found small variations among individuals in the sequence of chemical units, called base pairs, that make up genes throughout the human genome. These small variations, called single nucleotide polymorphisms (SNP’s), do not cause diseases themselves. However, patterns of SNP’s can help determine if a person’s genetic makeup, or genotype, predisposes that person to develop a particular disease.
Many people with the same disease may respond differently to the same treatment. The inconsistencies in responses may be due to individual genetic differences. Through molecular analysis of a person’s genome, physicians hope to predict disease risk and develop methods of treatment. By using this approach, often called genomic medicine, a physician can design a plan of health care to suit a particular patient’s unique genetic makeup.
Researchers in molecular medicine are working to identify the genes associated with complex diseases, such as cancer, heart disease, and diabetes. Complex diseases are not caused by abnormalities of a single gene. Variations in genotype affect the development and progression of the disease and response to treatments. Other developments in molecular medicine include the use of gene therapy to correct defective genes and even the creation of artificial chromosomes. However, most techniques in molecular medicine today are experimental.
See also Cancer (Molecular medicine) ; Gene therapy ; Genetic engineering (In medicine) ; Human Genome Project.
