Affecting about one in every forty-thousand people‚ Waardenburg syndrome (WS) is fairly rare. It is an umbrella which includes four genetic conditions‚ all caused by a mutated or altered gene. Each type affects the individual from birth. All types tend to cause some degree of abnormal pigmentation‚ hearing loss‚ and facial abnormalities (see figure 1)‚ and a few types create more serious concerns involving anomalies in the hands and arms‚ and life-threatening issues of the bowel. We are still learning
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"gēras"‚ meaning "old age". The disorder has a very low incidence rate‚ occurring in an estimated 1 per 8 million live births. Those born with progeria typically live to their mid teens to early twenties. It is a genetic condition that occurs as a new mutation‚ and is rarely inherited‚ as carriers usually do not live to reproduce. Although the term progeria applies strictly speaking to all diseases characterized by premature aging symptoms‚ and is often used as such‚ it is often applied specifically in
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disorder is caused by mutations in the mitochondrial DNA (mtDNA)‚ that can affect both sexes and it is strictly inherited from an affected mother. The expressivity of the condition may vary since the mitochondrial genome copies are quite unique and can be homoplasmy or heteroplasmy. Homoplasmy is when the cell has identical genome copies‚ whereas in the case of heteroplasmy‚ each cell can have the coexistence of mutant and wild-type mtDNA. When heteroplasmy is considered‚ for each mutation there is a specific
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Shwachman Diamond Syndrome (SDS) is an inherited condition that affects mainly the bone marrow‚ pancreas‚ and skeletal system of the human body. Bone marrow produces new blood cells; however‚ in a patient with SDS‚ the bone marrow does not make all of the types of white blood cells making the body more vulnerable to infection. The pancreas produces enzymes that help break down and use nutrients from food. SDS results in the pancreas not producing enough of these enzymes‚ which makes it hard to digest
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abnormalities‚ self-injurious behaviors‚ and other abnormal neurologic symptoms. The condition is caused by a mutation in the HPRT gene‚ which encodes for the peptide hypoxanthine guanine phosphoribosyltransferase. This enzyme regulates the production of guanosine monophosphate and inosine monophosphate. It also serves in the recycling of purine nucleotides in the purine salvage pathway. Mutation in the HPRT gene are manifested at varying degrees of expressivity. For example‚ in men with 20% HPRT deficiency
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Hutchinson-Gilberg Progeria Syndrome‚ commonly known as Progeria‚ is a genetic mutation‚ or not passed down to children by the parents‚ that affects only about 80 children on the entire Earth. This particular disease is the rarest ever to be found because of its specific effect on the genes of an embryo. Also‚ the word “progeria” was formed for the Greek language to mean‚ “prematurely old”‚ because when a child develops it‚ it will form physical features that resemble a person who is close to death
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a genetic disorder. These disorders could be as little as a mutation in a single gene. In another case‚ they could be as severe as having an extra chromosome‚ or taking away a chromosome. Genetic disorders are present from birth‚ but they may not be visibly seen until a later age. Some mutations could be heritable‚ or from your parents genes. Some forms of cancer can be inherited form a parent. Although‚ in most cases‚ these mutations are new changes to the DNA. “All humans have the same basic
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Understanding Evolution: A Simple and Easy Illustration by Adam Chandler on Saturday‚ June 23‚ 2012 at 5:54am Many people don’t understand what evolution is‚ and how it happens. Therefore‚ some of them might reject it based on not knowing what it is‚ or based on a wrong understanding of it. Because of that‚ I find it my duty to make an easy to understand illustration of evolution‚ as I believe I understand it well. I’ll try to make this illustration as easy as possible‚ and in many places‚ oversimplified
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all which is best suitable to the given problem‚ such as "ACO" algorithm which is called the ant colony optimization algorithm or Simulated annealing (SA) is a related global optimization technique that traverses the search space by testing random mutations on an individual solution. A
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activity of other genes‚ which could cause mutations. Due to the fact that the Human Genome Project gets bigger by the year and new information is updated almost daily‚ it will be easier to find any potential diseases caused by variables of the non-coding regions of the genome (Source G). The greatest genetic disturbance is caused when the “ultrasensitive” regions are altered. When major parts of the genome is not translated by the non-coding DNA‚ mutations occur (Source F). An international group
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