What Are Genes?
Genes, simply put, are the building block of heredity. Made up of DNA (deoxyribonucleic acid), genes create molecules called protein. There are approximately 20,000-25,000 genes in each person. We all have two sets of each gene inherited from our parents. Genes are uniform in all people; but, about 1%, difference may occur which is known as "alleles" and accounts for each individual's lead to a person's unique physical features.
First, A Little Background
In 1865, Gregor Mendel, an Augustinian monk (pictured above), published his findings on his work with plant hybridization and revolutionized the way scientists. Four years later, the discovery of nuclein DNA was made, which identified DNA associated with proteins. In 1952, Rosalind Franklin created "Photograph 51", which demonstrated a distinct pattern for DNA. James Watson and Francis Crick, in 1955, identified a double helix structure of DNA; and, in 1961, the genetic code for proteins was identified.
Twenty-five years ago, an international endeavor was started to map, and understand, the function and role of all genes in human development. From that collaborative, international research, scientists and physicians have been able identify specific gene sequences that has lead to diagnosis and treatment of inherited diseases, physical and mental disorders.
Diseases Caused By Genetic Deformities
The list of diseases and disorders is ever growing. Identifying the specific gene which causes the disease or disorder has lead to the ability to detect medical conditions quicker and leads to more specific treatment options. Currently, patients with specific heredity histories are now able to understand their risk for certain diseases. Breast, colon, prostate and skin cancer genes have been identified and the genetic implications have an impact on how the cancers are treated. Perspective parents are able to be better informed on the risks of their child being born with Down Syndrome, Sickle Cell disease, autism, hemophilia or cystic fibrosis. Older patients can benefit from knowing their risk for developing Parkinson's Disease, for example.
Scientists have done genetic work on less common, or orphan, diseases in the cardiovascular, ocular, neurological, respiratory and hematology. Research continues, and National Human Genome Research Institute of the NIH provides detailed information on the role of genetics in the treatment of diseases, disorders and illnesses.
What Are The Specialty Areas Of Gene Research?
Medicine has moved into specific areas of genetics to enhance and provide better clinical care. Specifically, the areas of reproductive/infertility, oncology, cardiovascular, Cystic Fibrosis, fetal intervention and therapy, hematology, metabolic, neurogenetics, pediatric, parental and post-mortem genetics have proven to be effective in providing a standard of care for patients. The work in genetics has improved treatment options for patients. For example, a breast cancer patient may be identified as having a specific BRCA1 or BRCA2 genes which will assist physicians in providing the most effect treatment plan.
Increasingly, more people are using genetic testing to determine their specific ancestry. Most people use DNA testing to fill in family history gaps or to confirm ancestry; although, not necessarily related to health issues, ancestry can point to potential genetic risks. Take for instance people who discover Ashkenazi Jewish heritage an Eastern European group is who prone to rare, genetic disorders. Identification of family members with this genetic make up may assist in identifying the risk for specific diseases, such as the disease, Tay-Sachs, which affects the brain and nervous system.
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