Information About Genetic Diseases - Daniel
Genetic disorders or diseases are caused by mutations or abnormalities in genes. Genetic diseases are often heritable and can be occur due to a plethora of reasons, most of which are often unknown. Unfortunately we don't know ways to stop genetic disorders before giving birth to a child. In this article, I will give you information about different genetic diseases.
Common Genetic Disorders
Down syndrome
Down syndrome, Down's syndrome, or trisomy 21 is a chromosomal disorder caused by the presence of all or part of an extra 21st chromosome. Individuals with Down syndrome tend to have a lower than average cognitive ability, often ranging from mild to moderate developmental disabilities. Many of the common physical features of Down syndrome also appear in people with a standard set of chromosomes.
Angelman Syndrome
Angelman syndrome (AS) is a neuro-genetic disorder characterized by intellectual and developmental delay, sleep disturbance, seizures, jerky movements especially hand-flapping, frequent laughter or smiling, and usually a happy demeanor. AS is a classic example of genetic imprinting in that it is usually caused by deletion or inactivation of genes on the maternally inherited chromosome 15.
Cystic Fibrosis
Cystic fibrosis (CF) is an inherited disease of your mucus and sweat glands. It affects mostly your lungs, pancreas, liver, intestines, sinuses, and sex organs. CF, an abnormal gene causes mucus to become thick and sticky. Other people have more mild disease that doesn't show up until they are adolescents or young adults. CF is caused by a mutation in a gene called the cystic fibrosis transmembrane conductance regulator (CFTR).
Haemophilia
Haemophilia is the name of some genetic disorders which mean the body's inability to control bleeding. The bleeding might be exterior, if the skin is broken by a cut, scrape, or abrasion, or it can be interior, into joints, muscles, or organs which are hollow. The result can be visible on the skin or subtle (e.g., brain bleeding).
Well, above are some of the most common genetic diseases. Most of the above diseases cannot be cured but research is still going on and one day it might be possible for humans to treat such deadly diseases.
Common Genetic Disorders
Down syndrome
Down syndrome, Down's syndrome, or trisomy 21 is a chromosomal disorder caused by the presence of all or part of an extra 21st chromosome. Individuals with Down syndrome tend to have a lower than average cognitive ability, often ranging from mild to moderate developmental disabilities. Many of the common physical features of Down syndrome also appear in people with a standard set of chromosomes.
Angelman Syndrome
Angelman syndrome (AS) is a neuro-genetic disorder characterized by intellectual and developmental delay, sleep disturbance, seizures, jerky movements especially hand-flapping, frequent laughter or smiling, and usually a happy demeanor. AS is a classic example of genetic imprinting in that it is usually caused by deletion or inactivation of genes on the maternally inherited chromosome 15.
Cystic Fibrosis
Cystic fibrosis (CF) is an inherited disease of your mucus and sweat glands. It affects mostly your lungs, pancreas, liver, intestines, sinuses, and sex organs. CF, an abnormal gene causes mucus to become thick and sticky. Other people have more mild disease that doesn't show up until they are adolescents or young adults. CF is caused by a mutation in a gene called the cystic fibrosis transmembrane conductance regulator (CFTR).
Haemophilia
Haemophilia is the name of some genetic disorders which mean the body's inability to control bleeding. The bleeding might be exterior, if the skin is broken by a cut, scrape, or abrasion, or it can be interior, into joints, muscles, or organs which are hollow. The result can be visible on the skin or subtle (e.g., brain bleeding).
Well, above are some of the most common genetic diseases. Most of the above diseases cannot be cured but research is still going on and one day it might be possible for humans to treat such deadly diseases.
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