Rare Genetic Diseases

Rare Genetic Diseases
To many people, genetic diseases are a mystery that they would not want to confront at any stage in their lives. They bring about abnormalities that are very difficult to treat. They occur because of genetic material that is carried on from one generation to the other. The genetic code responsible for these diseases is a result of mutations.

Rare genetic diseases are more difficult to treat than those that occur often. This is because of the fact that rare diseases occur often making them low-priority diseases in terms of research since they do not affect many people. Researchers would rather dwell more on only those diseases that affect many member of population.

A genetic disease can be rare in one community but not in another. The community here refers to family lineage, ethnic group, a demographic unit or members of one race. For instance, Alzheimer's disease is not common among Caucasian people but is very common among ageing people of other racial backgrounds all over the world.

Alkaptonuria is a very rare genetic disease which is also commonly referred to as black urine disease. This disorder results from a tyrosine problem in the body's metabolism system. Out of between 250,000 and 1 million, one person has this disease. When it is exposed to air, the urine of such people instantly changes color into black. Patients are often urged to eat foods that are rich in vitamin C. One ought to avoid foods containing phenylalanine and tyrosine.

Hereditary Angioedema or HAE is one of the rare genetic diseases that few people know about. An abnormal functioning of C1 inhibitor causes the disease. C1 inhibitor is a protein that is formed from mutations that occur within the C1NH gene. The protein affects proper functioning of blood vessels. It occurs in one person out of every 150,000 people. The disease can effectively be treated through hormone treatment and use of painkillers. The most common symptoms include swelling of legs, eyes, arms and abdominal pain. Sometimes blockage of the airway can occur.

Kartagener's Syndrome is also a very rare genetic disease. This disease affects the lungs in a very chronic way. The syndrome occurs in one out of every 30,000 members of population. The disease occurs through ciliary defect. This defect results in a very abnormal ciliary motion. The defective genes in all Kartagener's Syndrome patients are DNA11 and DNAH5. Chest therapy and surgical intervention are the two main treatment options available to sufferers of Kartagener's Syndrome.