There are four different types of genetic disorders: single-gene, multifactorial, chromosomal, and mitochondrial. Single gene, which is also called as Mendelian or monogenic inheritance, is caused by changes or mutations that occur in the DNA sequence of one gene. There are more than 6,000 known single-gene disorders, which occur in about 1 out of every 200 births.

Multifactorial disorder is caused as also called complex or polygenic inheritance. This disorder is caused by a combination of environmental factors and mutations in multiple genes. Examples of multifactorial inheritance include heart disease, high blood pressure, Alzheimer’s disease, arthritis, diabetes, cancer, and obesity. Read the rest of this entry →

People seek genetic counseling to help them make better decisions about their lives and families.  There are many treatments and prevention is present there, Gene therapy is one of them. Gene therapy is a technique for correcting defective genes responsible for disease development. In gene therapy researchers try to supply copies of healthy genes to cells with variant or missing genes so that the “good” genes will take over. In gene therapy the abnormal gene could be repaired through selective reverse mutation, which returns the gene to its normal function.

Bone marrow transplantation (BMT) is another known treatment for a variety of genetic diseases. These diseases are caused by a deficiency of a specific substance in the body, usually a protein, which results in the accumulation of toxic chemicals inside the cells. The purpose of a bone marrow stem cell transplant for children with these disorders is to provide special marrow-derived cells. Read the rest of this entry →

Genetic diseases are caused by error in the DNA in sequences called “genes” or is an illness caused by abnormalities in genes or chromosomes. Most cells in the human body have 23 pairs of chromosomes, making a total of 46. There are four different types of genetic disorders: single-gene, multifactorial, chromosomal, and mitochondrial.

A genetic disorder is a disease caused by abnormalities in an individual’s genetic material genome. Genetic disorders can also be inherited. If a person carries the dominant gene for a disease, he or she will usually have the disease and each of the person’s children will have a 1 in 2 (50%) chance of inheriting the gene and getting the disease. Cancers is also caused by a mutation in a gene or group of genes in a person’s cells. These mutations can occur randomly or because of an environmental exposure such as cigarette smoke.

Chromosomes, distinct structures made up of DNA and protein, are located in the nucleus of each cell. Because chromosomes are carriers of genetic material, such abnormalities in chromosome structure as missing or extra copies or gross breaks and rejoining (translocations) can result in disease. Multifactorial, this type is also called as complex or polygenic. This type is caused by a combination of environmental factors and mutations in multiple genes.