Genetic Diseases: List of Genetic Disorders

"They are in you and me; they created us, body and mind; and their preservation is the ultimate rationale for our existence. They have come a long way, those replicators. Now they go by the name of genes, and we are their survival machines." - Richard Dawkins

"Let us understand what our own selfish genes are up to, because we may then at least have a chance to upset their designs, something that no other species has ever aspired to do." - Richard Dawkins

Everything is written in the DNA blueprint, that decides every characteristic, every trait and every feature of the human body. Genes are small parts of the entire genetic code written in the DNA, associated with a particular body function or feature. Genetic diseases are caused due to mutation inside one of the genes, deletion of any specific genes, chromosomal aberrations and abnormal extension of genes in their length. Unfortunately, it isn't possible to stop genetic disorders, before giving birth to a child. The defects are hard coded in the genes. However, through genetic sequencing, one can have a forewarning about the possible genetic diseases that might be triggered in an individual's body. Here is the list of the most common genetic disorders.

Angelman Syndrome
Angelman Syndrome is a rare disorder, having neurogenetic causes. The syndrome was first described in 1965 by Dr. Angelman. A syndrome is a based on group characteristics and manifest a specific condition. This syndrome can be described by an intellectual and evolutionary delay, difficulty to speak, sleep problems, erratic or jerky hand movement, uncontrolled laughter or just smiling and in general a perpetually happy appearance.

Canavan Disease
Canavan disease is a genetic disorder which produces gradual damage to nerve cells of the brain. This disease belongs to the category of genetic disorders named leukodystrophies. Leukodystrophies' feature is myelin degeneration that is the phospholipid layer which protects nerve fibers.

Celiac Disease
Celiac disease is a disorder which is autoimmune, affecting the small bowel, which appears in the case of genetically predisposed persons belonging to all age categories, after infancy stage. Its symptoms can be diarrhea or fatigue, although these can be symptoms of other diseases too.

Celiac disease is produced by a reaction to gliadin, which is a gluten protein derived from wheat. The lining of the small intestine will become flat, which prevents the absorption of nutrients. The unique efficient treatment is a permanent gluten-free diet.

Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth disease is a heterogeneous genetic disorder of nerves which is defined by touch sensation loss and loss of muscle tissue, especially in the legs and feet but also in the arms and hands as well, in the advanced phases of disease. Even if, for now, it can't be cured, this disorder is one of the most popular genetic neurological disorders. According to statistics, about 36 individuals among 100,000 are affected, by this disease.

Color Blindness
Color blindness or deficiency to perceive colors can be of genetic nature, but can as well appear because of brain, eye, or nerve damage, or because of contact with some chemicals products. In 1798, the English chemist John Dalton studied this aspect for the first time, which is why it is sometimes called Daltonism.

Cri du Chat
Cri du chat syndrome is a rare genetic disorder which approximately affects 1 in 20,000 to 50,000 live births. The disease does not depend on ethnic backgrounds, but is most common in the case of women.

The disorder gets its name from the typical cry of babies born with this syndrome. The baby sounds like a kitten, because of problems with the nervous system and larynx. The good news is that about 1/3 of kids recover by the age of 2. Negative aspects of this disease may be:

• Feeding problems, because they can't suck and swallow well
• Low weight at birth and poor evolution
• Motor, cognitive, and speech delays
• Behavioral problems such as aggression, hyperactivity, and repetitive movements
• Uncommon facial traits that can change in time

Cystic Fibrosis
Cystic fibrosis is an inherited disorder which can affect the entire body, leading to gradual disability and death. The most common symptoms are difficulty breathing and not enough enzyme production in the pancreas. Low immune system and dense mucous production lead to frequent lung infections, that are treated, but not always cured, sometimes by intravenous and oral antibiotics. Many other symptoms, like sinus infections, poor evolution, diarrhea can be effects of this disorder in the case of other parts of the body. Sometimes, recurrent lung infections during infancy or childhood may be a sign of cystic fibrosis.

Down Syndrome
Down syndrome is a hereditary disorder which features problems related to cognitive ability, physical evolution, and facial traits. It is called after John Langdon Down, the doctor who described it in 1866, in Britain. Most of the time, it is detected at birth.

Duchenne Muscular Dystrophy
Duchenne muscular dystrophy is a mortal disorder which is defined by rapid loss of muscle and gradual muscle weakness, as well as damaged muscular tissue, beginning in the pelvis, legs and then spreading over the entire lower body.

Hemophilia
Hemophilia 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).

Klinefelter Syndrome
Klinefelter's syndrome has the prime effect of abnormal testicular evolution, absence of secondary sex characteristics and decreased fertility.

Neurofibromatosis
Neurofibromatosis includes is a different type of genetic disorder, which makes tumors develop along different nerves and besides that, may influence the evolution of tissues, which are not nervous, like skin and bones. The tumors may develop anywhere in or on the body.

The list may continue with other genetic disorders like: Phenylketonuria, Prader-Willi syndrome, Sickle-cell disease, Spina bifida, Tay-Sachs disease or Turner syndrome. Unfortunately the list does not finishes here and researchers in the domain of medicine must work a lot harder to discover remedies for them.