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Canavan disease is a rare neurological autosomal recessive disorder that can only be inherited if both of the parents of the offspring have a certain mutated gene. This mutation makes it so that the enzyme called aspartoacylase, or ASPA for short, is absent in the brain. Aspartoacylase breaks down the compound called N-acetyl-L-aspartic acid (NAA) into materials to make myelin, or white matter. The chances of having a child with Canavan disease would be one out of four, or 25 percent. However, there is a fifty percent chance that an offspring will be a carrier for the disease.
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This inherited blood disorder is one of the different types of anemia; the condition in which your blood has lower RBC’s than normal. You cannot catch this disease, for the person must be born with it by inheriting two genes for sickle hemoglobin—one from each parent. Unfortunately, there is no cure for the disease, however, treatments to improve the anemia and lower problems, can help with the symptoms and difficulties of this disease in both children and adults. There are now improved treatments and care that helps people who have sickle cell anemia live longer. Sickle cell disease (SCD) was first described in 1910 (Frenette & Atweh, 2007).
Tay-sachs Disease Tay-sachs disease is perhaps a very dramatic disease because it strikes most keenly at small children and babies. The disease is very rare and fatal. Tay-sachs is a genetic disorder in which harmful amounts of fatty lipids, known as ganglioside GM2, is built up in the nerve cells in the brain. Infants who with Tay-sachs disease, who are not carriers, appear to develop normally for the first few months since their birth, but as the nerve cells become swollen with the fatty material, a severe decline of mental and physical abilities occurs. The child then becomes deaf, blind, and unable to swallow.
After the negative effect of the gene mutation, the proteins within the gene become stacked awkwardly and do not fit together properly. The abnormal protein Lamin-A is known as the protein progerin. Progerin acts as an imposter by sticking where normal protein should be and causes toxicity to the body resulting in a domino effect of several other diseases and symptoms. Progeria is an extremely rare disease affecting only about 1 in 4 million babies born worldwide. According to the Progeria Research Foundation’s website, there are currently 105 known cases in 38 countries worldwide.
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In today’s modern society, there are over 10,000 diseases that are said to be monogenic, meaning that only one gene is involved in the disease ("Genes and Human Disease"). Many of these diseases are incurable and can prove to be terminal, one of which is Huntington’s disease. Not only is this disease physically detrimental to the well-being of the individual, it can also affect other loved ones such as offspring. An example of such issues is exemplified in Alice Wexler’s memoir Mapping Fate: A Memoir of Family, Risk, and Genetic Research, where she describes the struggles and challenges her and her family must face as her mother is diagnosed with Huntington’s disease. As mentioned earlier, Alice Wexler’s mother, Leonore, is diagnosed with Huntington’s disease while she is in her 50s.