Important Genetic Disorders and How They Are Treated

Genetic diseases are caused by the abnormalities that exist within the genome of an individual. This abnormality can either be minuscule or it can be major. Few of the genetic disorders are normally inherited from the family members. On the other hand, a few other kinds of genetic diseases are caused by the mutations and changes in a particular gene or a group of different genes. Mutations are known to occur as a result of the environmental factors.

Important Genetic Disorders

Types of Genetic Inheritance

Genetic diseases can be detected with the help of the Branched DNA Assay. If you want to know in details about this procedure and how it works, you should definitely visit the website This procedure is one of the most trusted procedures and hardly gives any inaccurate results.

Mendelian Inheritance

The Mendelian Inheritance, also known as the Monogenic Inheritance is normally caused due to the mutations and changes, which take place in the sequence of a particular gene. It has been observed that there are more than six-thousand disorders that are caused due to single gene mutations. Monogenic disorders include:

  • Sickle cell anemia
  • Cystic fibrosis
  • Hemochromatosis
  • Marfan Syndrome
  • Huntington’s Disease

Polygenic Inheritance
Polygenic or Complex Inheritance, which is also known as the multifactorial inheritance, is caused by the combination of various environmental factors as well as mutation, within two or more genes. Few of the chronic diseases are a result of the multifactorial disorders. Complex disorders include:

  • Heart disease
  • High blood pressure
  • Arthritis
  • Alzheimer’s Disease
  • Obesity
  • Cancer

The Abnormalities of Chromosomes
Chromosomes are situated within the nucleus of the cells and they are composed of protein and DNA. Since chromosomes are known to carry the genetic materials, any abnormality in the structure or number of chromosomes is responsible for a disease. Chromosome abnormalities include:

  • Down syndrome
  • Klinefelter syndrome
  • Turner syndrome

Mitochondrial Genetic Inheritance
This disorder is a result of the mutations that are caused by the non-nuclear DNA of a mitochondrion. Mitochondria are responsible for cellular respiration and they are located within the cytoplasm. Mitochondrial diseases include:

  • Leber’s hereditary optic atrophy
  • MERRF, one kind of epilepsy
  • MELAS, a form of dementia

Treatment of the Disorders
There are many disorders that cannot really be cured. However, the treatments help in managing the diseases that are caused as a result of the abnormal genes. It is important to know that the treatments vary in accordance with the kind of disorder. One treatment that is being used in clinical trials is known as the Gene Therapy.
Though the Gene Therapy is still not available to a wide mass, the doctors are hoping to improve or even cure the genetic disorders. This can be done by replacing the malfunctioned or the mutated genes, turning off or manipulating the genes, or stimulate the other functions of the body for fighting a particular disease.

Medical science is progressing very fast and the doctors hope that soon there will be a permanent solution to cure these unwanted genetic disorders.
Author bio –
Daniel Mattei is a Professional writer. He has written many articles on Health. You can visit

Leave a Reply

Your email address will not be published. Required fields are marked *