Diseases Diseases

How To Prevent Rare Genetic Diseases


Before any disease or disorder can be prevented, it is essential that it must be pointed out. This is why rare genetic diseases are very dangerous. They stay dormant in one’s body until finally a factor triggers them and they become active. It is also very difficult to point them out in the first place because they show no real symptoms before triggering. Genetic diseases basically are transferred from generation to generation in DNA. A new born child will have any rare genetic diseases in him/her if the family has a common disease going around.


Rare genetic diseases have basically four main categories. First one is the “Single-gene Genetic disease”. What this means is that in this particular category the genetic disease is developed in one gene which transforms the mutation ahead and creates a defective protein that disables certain organs from carrying out there biological functions. There are more than six thousand types of genetic diseases in this category alone.


Then there is the “Polygonic Genetic disease.” This is a more complex category and the mutation in these disorders starts simultaneously in many genes. These are very difficult to analyze and study for doctors. Diseases like Sugar, Arthritis and Alzheimer’s are created due to this sort of mutation in DNA. Moving ahead, we have the third type as “Chromosomal Genetic diseases”. This is caused due to fluctuation in a number of chromosomes. It is slightly easier to handle than the Polygonic genetic category. Fourth type is Mitochondrial Genetic Diseases. These are the type which features the rare genetic diseases. This particular one causes mutation in molecule of mitochondria, which can further lead into various disorders. Alkaptonuria is one of the rarest genetic diseases that affect 1 in 250,000 people. As a result the patient has black urine instead of being able to urinate normally. Alkapton is a toxic which is excreted via urine. This toxic further can create more complications such as heart diseases and kidney stones. Krabbe Disease is also among the rare disorders that affect one child in every 100,000 born. Due to this particular disorder the brain cells start to die and most of the times the child dies before the age of two. Symptoms are seizures signs of mental abnormalities and continuous vomiting. Kartagener’s Syndrome is another rare genetic disorder which causes the lungs to develop a chronic disease. Symptoms of this particular disease include difficulty in breathing, infertility and signs of sinusitis.

Tips and comments

The truth is that a lot of rare genetic diseases have no cure. Mostly due to the fact that there are not enough subjects seen that can be studied and analyzed properly for sorting out a proper cure. For instance, in the case of Krabbe Disease the patient dies at the tender age of 2, leaving little room for practitioners to study the particular disease. But many genetic diseases do have cures. The best way to fight such diseases is to visit your doctor timely. Because any disease to name can only be treated if pointed out first. Therefore make sure you visit your doctor with your family at regular basis.

By Sidra Rana, published at 02/07/2012
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