Genetic Diseases


Genetic disorders

As the science of medicine is beginning to progress day by day, the range of its analysis and the methods of the cures and prevention measures offered by it are also increasing. In this scenario, a term that often can be heard around us today is the term “genetic disorders”. A genetic disorder can be defined to be the cause of a disease or a set of maladies that result from a certain abnormality in the human genetic structure or in other words the DNA of the patient concerned.

Most of the diseases that stem from the abnormalities of the DNA structure are quite complex as well as extremely rare. However, there can be some other diseases such as some forms of cancer which are caused by the joint forces of a genetic disorder as well as other subsidiary factors such as various environmental factors.

Causes of the various genetic disorders

An important and common cause of diseases which are created by genetic disorders is the presence of an abnormality in the growth or structure of the individual’s genetic assemblage, a disorder that is in most cases naturally caused and remains dormant within the human body from the time of the individual’s birth. However, there can be other reasons for the formation of genetic disorders which can be due to the influence of various environmental factors such as excessive intake of smoke, which is seen to be one of the most common causes of genetic disorders such as cancer.

Genetic disorders can also be inherited. This can give rise to diseases and maladies which are passed down from one generation to another.

Kinds of genetic disorders

There are several kinds of genetic disorders, which can include a single gene disorder as well as Muti Factorial or Polygenic disorders and Chromosome Disorders.

Single Gene Disorder

As the name implies, the cause of the formation of a single gene disorder is the result of the deformity of a single cell of the patient’s body. Though, this apparently sounds to be harmless, the result of the disorder of even a single cell of the human DNA can cause as many as over 4000 human diseases, all of which can assume life threatening proportions.

The single Gene Disorder is also one of the most common forms of genetic disorders which can be transferred from one generation to the other along with the illnesses which are associated with it. Sickle Cell disease as well as a number of other diseases related to the formation of cysts in the human body can be said to be the different kinds of diseases which are formed as a result of the Single Cell Disorder of the human genes.

Chromosome Disorders

Chromosome Disorders are said to be a derivative of the various disorders associated with the human genes. In the case of the chromosome disorders, the cause of the condition is generally attributed to the excess or deficiency of the various components that make up the human chromosome structure. These in turn affect the general structure of the chromosome, which in turn again give rise to several different kinds of maladies and illnesses.

Down’s syndrome can be said to be an example of the different kinds of illnesses which are caused by the Chromosome Disorders of the human genes. In this case, though no individual cells of the body can be said to be abnormal, yet the presence of an extra copy of chromosome 21 can be said to be the cause of the malady.

Multi Factorial or Polygenic Disorders

One of the most complex forms of genetic disorders, the cause of the Multi Factorial or Polygenic disorders can stem from a variety of reasons, in most cases, the reasons for this can be said to be a cross between various environmental factors as well as inheritance of the disorder of the abnormal gene from one generation to the other.

In these cases, the diseases can be caused by a number of behavior factors, such as excessive smoking which can cause cancer as well as environmental reasons, which could be explained by the extreme influence of pollution which can cause breathing disorders of various kinds, such as asthma. It could also indicate the different types of illnesses that are passed on from generation to the other by the presence of a mutated gene such as diabetes as well as high blood pressure.

Some of the different kinds of maladies which are caused by the genetic disorders of the Multi Factorial or Polygenic type can include names such as:

  • Asthma
  • Autism
  • Multiple Sclerosis and other such diseases which are Autoimmune in nature
  • Cancers
  • Ciliopathies
  • Cleft Palate
  • Diabetes
  • Heart Disease
  • Hypertension
  • Inflammatory Bowel Disease
  • Mental Retardation
  • Obesity

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