Inherited Diseases

When a mother is expecting, she often worries about the possibility that there could be some lurking genetic issue that could affect her baby. Sometimes they do occur without warning and her baby is born with some unexpected issues. These inherited diseases are caused by mutations in the genes we inherit from our parents. These diseases are the result of changes to chromosome structures that cause modifications in a person’s DNA sequence. Environmental exposure to such chromosome-altering substances as cigarette smoke can also cause changes in a person’s DNA sequence. Environmental exposure also may cause many types of cancers and neurofibromatosis. Genetic disorders can be caused by a mutation of one gene, by mutations of multiple genes, by a combination of gene mutations and environmental factors or by damage to chromosomes.

Among the diseases resulting from genetic disorders are many commonly known diseases, including arthritis, autism, polycystic kidney disease, hemophilia, cancer, diabetes, multiple sclerosis, heart disease, high blood pressure, sickle cell anemia, fragile X syndrome, albinism, Huntington’s disease, cystic fibrosis, hemochromatosis, Marfan syndrome and other rare diseases.

Genomic working groups are engaged in much research and the development of genomic medicine with the aim of helping families and individuals with inherited diseases find treatments and ways to pursue daily activities and live lives as fully as is possible with their families, support groups and communities. Key in advancing this area of medicine is a new field of endeavor known as pharmacogenomics.