Genetic disorders are genetic problems that are caused by abnormalities in the genome. Genetic diseases are usually present in individuals from birth therefore they are also known as congenital diseases. Most genetic disorders are very rare and affect only one person in several thousands or millions. To understand genetic disorders in humans in a better way we must first understand what a gene is. A gene is a unit of heredity that is passed from parents to offspring and it is responsible for determining certain characteristics of the offspring that are similar to the parents or at least one of the parents. A genetic disorder occurs when there is an abnormality in the individual’s DNA. The mutation in the DNA may either be inherited at birth or acquired during a person’s life.
Types of Genetic Disorders
There are three main types of genetic disorders:
Single Gene Disorder - When one specific gene is known to cause a disease it is known as single gene disorder. It is also called Mendelian disorder. Single gene disorders are not very common. Inheriting just one copy of the mutated gene is enough to have this disorder. The mutated gene is inherited from a parent who suffers from this disorder. Unfortunately, every generation in the family may have family members with this disorder. In certain cases, a person with the disorder does not show any symptoms but he or she can still pass the gene to their offspring. A person carrying a gene of an autosomal dominant disorder has 50% chance of passing the gene to each child. Some examples of single gene disorders are sickle cell disease, muscular dystrophy, cystic fibrosis, etc.
Chromosomal Abnormalities - It is a type of genetic disorder in which chromosomes or parts of the chromosomes are missing or altered. Chromosomes are the structures that bind the genes together. Chromosomal abnormalities can occur in a number of ways such as changes in the number of chromosomes, changes in the structure of chromosomes or how the chromosomes are inherited. The altered chromosome can be passed from the parent to the child, or the abnormality can take place when either the sperm or the egg is created in the body. Examples of chromosomal disorders include Down syndrome, Turner Syndrome, Williams Syndrome, Klinefelter Syndrome, CRI-DU-CHAT Syndrome, etc.
Multifactorial Disorders - Multifactorial disorders are also known as complex disorder because they involve mutations in multiple genes coupled with lifestyle and environmental causes. Multifactorial or polygenic inheritance involves complex traits that are determined by various genes at different loci, and the effects of those genes are cumulative. Therefore, in this case, no single gene can be considered to be dominant or recessive to another. Some examples of multifactorial disorders are breast cancer, ovarian cancer, colon cancer, Alzheimer’s disease, hypothyroidism, coronary heart disease, diabetes mellitus, osteoporosis, asthma, gout, etc.
Treatment of Genetic Disorders
Now that you have some idea about genetic disorders and its types, let us take a look at the treatment of genetic disorders. In most cases, genetic disorders affect multiple body systems, and most of them cannot be cured. But treatments are there to manage some of the associated signs and symptoms of the disorders.
Dietary Changes and Replacement of Enzymes - Genetic conditions caused by inborn errors of metabolism can disrupt the production of certain enzymes. Treatment of such diseases includes dietary changes along with replacement of the particular enzyme that is missing.
Enzyme Replacement Therapy - In certain cases, enzyme replacement therapy can compensate for the enzyme shortage.
Surgery - Genetic disorders associated with coronary heart disease or heart defect can be treated with a surgery to repair the defect or a heart transplant.
Bone Marrow Transplant - Genetic conditions characterized by defects in blood cell formation such as sickle cell disease can be treated with bone marrow transplant. Bone marrow transplantation aids the formation of normal blood cells.
Cancer Screening and Preventive Surgery - Certain genetic changes are associated with increased risk of cancer. The management of such conditions includes frequent cancer screening and prophylactic surgery to remove the tissues that are at highest risk of turning cancerous.
Gene Therapy - Gene therapy involves changing a person’s genes to prevent or treat a disease. In this procedure, safe and effective vectors are used to target different types of cells that aid to manage and minimize immune responses in patients.
Due to the wide range of genetic disorders that are known to us, the diagnosis and treatment of a specific genetic disorder depend on the disorder itself. While most genetic disorders are diagnosed at birth or during early childhood, some disorders can escape detection until the patient is grown up. The main treatment of genetic disorders is gene therapy and researchers have been working for decades to provide effective gene therapy treatments to patients. Other treatment options involve treating the symptoms of the disorders in an attempt to improve the patient’s quality of life.
All the treatments – medicines, injections and vaccines are for general information of the reader. Please consult a doctor and get a formal prescription before taking any medicines, supplements and injections.
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