Genetic disorders and diseases are caused due to the presence of an abnormality in an individual’s genome, which could vary from minor mutations of single gene to the absence or loss of a whole set of chromosomes. The possibility that an individual may suffer from minor muscular problems or face severe life threatening symptoms is dependent on the nature of this abnormality.

A variety of diseases may have a genetic aspect, including some of the more well known conditions like a number of cancers, caused by mutation in a gene or in a group of genes.


These mutations may come about randomly or as a result of some environmental exposure such as to cigarette smoke or radiation. In many other cases genetic disorders may be inherited, which means that a mutated gene is passed down the generations from parent to child and so on, with the next set of children inheriting the gene responsible for the disease. There are still more genetic disorders that could be caused due to defects or inconsistencies in the chromosomes or number of packages of genes, with patients of Down Syndrome for example, having an extra copy of the chromosome 21.

Today, parents to be can exploit modern medicine to improve the health of their kids, with genetic testing helping determine if and how your baby could be affected.


If there is any known genetic problem or suspected problem in the family, it makes sense to go in for such tests. Typically, genetic disorders are classified into four types, which would include the following:

Single gene disorders, which are caused by mutations or changes occurring the DNA sequence of a single gene and are typically passed from the mother to the child. There are over 6,000 of such disorders that we know of with the incidence being as much as 1 in 200 births. Single gene disorders include sickle cell anemia, cystic fibrosis, Huntington’s disease, and hereditary hemochromatosis among others.

Multiple-gene disorders are caused when it is not just a single gene that is affected. Breast cancer would be one such example where the damage is attributed to numerous genes on multiple chromosomes. Genetic diseases of this nature are caused by both environmental factors and heredity. These disorders are a lot harder to treat and investigate because of the complexity. Some of the more common ailments like heart disease, hypertension and Alzheimer's disease fit into this category.

Chromosomal disorders come about during the mitosis or meiosis of the cell. During these processes there is a splitting of chromosomes and if not divided appropriately there may be an uneven distribution of chromosomes between cells. This is responsible for disorders like Down syndrome. Mitochondrial disorders stem from mutations of the mitochondrial DNA and this is quite rare. It could include conditions like deafness, Diabetes mellitus, and Leigh syndrome.

Genetic testing helps determine the risk of a disease being passed on to the offspring. Modern research has been promising with some studies indicating that the use of stem cell transplants can rectify a number of genetic defects, with marrow stem cell transplants having demonstrated reversal of mutated genes in mice. So far the only treatment for genetic diseases has been with medication and therapies that can make the conditions manageable, but the only possible cure come from stem cell transplants – a subject still being researched. In some cases, gene therapy can be used to repair genetic defects. Testing however, currently remains the most effective safeguard against genetic disorders.