Friday, May 29, 2009

Genetic diseases a Thing of The Past

They say that everyone has a friend, relative or colleague who is personally affected by Breast Cancer. This fatal disease is the result of mutated or altered genes. Instead of regulating the growth of breast tissue, it causes cells to uncontrollably divide, making more than the normal amount of cells in a specific area, it is these cells that form tumours. Tumours fall into two categories malignant or benign.
Benign means not being life-threatening, in medical term this means that it is noncancerous and therefore not a threat to life or the long-term health of the patient.
Malignant on the other hand means being cancerous with cells that invades tissues around the infected area and if left undetected or untreated may invade vital organs of the body for example the liver and inevitably cause death.
Breast Cancer in particular claims over 2 600 Australians every year, averaging seven people per-day. Breast cancer is well publicized although little is known by the public about where when and how it starts.
Due to prominent people like, Belinda Emmett, Jane McGrath, Lance Armstrong and Kylie Minouge who have all suffered from some form of cancer and in some cases lost their battle, research and information is becoming readily available to the general public. This type of publicity has helped to make us aware of the need for regular checks and a greater awareness of this life threatening disease that appears to be able to strike anyone at anytime.
Both males and females have a chance of getting this disease. However research has shown that there are groups of people who have a higher risks factor due to:
1. Two or more close relatives, on the same side of the family or with a direct relative eg: mother or father, who have either had/ have prostate, breast or ovarian cancer.
2. Those who have the recently discovered mutated genes BRCA1 and BRCA2 (standing for BReast CAncer gene one and two) and whose effected relative is under 50.
People found with these genes have a 50-85% higher chance of getting Breast Cancer, than those who do not. The discovery of these mutations has assisted in the early detection in high risk patients and will ultimately have a significantly result in the prevention of this fatal disease. Research into and early intervention will significantly reduce the number of Breast Cancer cases, in people found with these genes.
Through new technologies in gene testing, patients have the opportunity to find out if they have these genes. A GP can take a blood sample and send it to a DNA analysis laboratory and within weeks patients should get the results. This relatively new technology was initially used to search for genetically inherited disorders, like Down Syndrome, Muscular Dystrophy and Hunting’s Disease, but as genetic scientists are now discovering more specific genes like BRCA1 and BRCA2 it is helping in the detection of patients who have high risk breast cancer factors.
BRCA1 and BRCA2 are located on chromosome 13 and 17 as displayed in the image to the right.
The possibility of gene testing and prevention of disease like breast cancer has been a stupendous break-though in medical science. Continued research developments is paramount in the continual battle to prevent genetic diseases, such as Breast Cancer, and other breakthroughs in medical science will continue as long as there is the passion and dedication of medical researchers, availability of funds and the will and determination to find ways to fight diseases and improve health and life throughout the world.

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