Do you know what a genetic disease is?
Genetic diseases are caused by mutations in an individual’s genome. These mutations can be passed down from either parent and they may cause a variety of symptoms that might not manifest until later in life. Genetic diseases are usually diagnosed through genetic testing which is done to identify the gene mutation(s) causing the disease. There are currently over 6,000 known genetic disorders, but only about 4% of them have been studied enough for diagnostic tests to be developed.
There are three main types of genetic diseases. These include single gene, chromosomal, and multifactorial.
Single gene genetic diseases are a type of disease that is caused by defects in one specific gene. They are typically passed on through the genes from parents to their offspring and can be inherited from either parent. These types of diseases are rare, occurring in less than 1% of all cases, but they can have devastating consequences for those who inherit them. One example is cystic fibrosis which affects over 30,000 people worldwide and causes serious health problems such as breathing difficulty and lung infections because it affects the lungs’ ability to clear out mucus. Cystic fibrosis also makes it harder for people to absorb nutrients like fat or vitamin A which could lead to long-term complications such as blindness or heart failure.
The human genome is made up of 46 chromosomes. Chromosomes are two sets of 23 individual and unique DNA molecules, which carry all the information about what a person looks like, how they behave, and even their health for generations to come. More than 300 genetic diseases have been identified with chromosomal abnormalities as one of the causes (abnormal numbers or structures in chromosomes.) Some people who have chromosome abnormalities don’t show any symptoms at birth but only develop them later on during life such as Down’s syndrome (trisomy 21). For others, there can be several different manifestations including intellectual disability, congenital heart defects, or low life expectancy.
Genetic diseases are a result of many factors including inheritance and environment. Multifactorial genetic disorders occur when the hereditary component is combined with environmental risk factors that contribute to the disease phenotype. The most common multifactorial disease in humans is diabetes mellitus, which has been shown to have both genetic and non-genetic contributors in its development. These types of diseases may manifest differently depending on the person’s genetics or environment, making it difficult for scientists to provide an accurate diagnosis.
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