Genetic Diseases Essay Sample

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  • Word count: 728
  • Rewriting Possibility: 99% (excellent)
  • Category: disease

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Introduction of TOPIC

John Dalton “discovered” color blindness after he was looking at a Pelargonium zonale(a kind of flower). Dalton saw the flower as blue, whereas it is in actuality, pink. Dalton noted this fact in 1792. A gentleman by the name of John Dalton who was color blind himself wrote a study in 1794. “Extraordinary facts relating to the vision of colours”, after the realization of his own color blindness; because of Dalton’s work, the condition is sometimes called Daltonism, although this term is now used for a type of color blindness called deuteranopia. Color blindness affects a significant number of people, although exact proportions vary among groups. In Australia, for example, it occurs in about 8 percent of males and only about 0.4 percent of females. Isolated communities with a restricted gene pool sometimes produce high proportions of color blindness, including the less usual types. Examples include rural Finland, Hungary, and some of the Scottish islands. In the United States, about 7 percent of the male population – or about 10.5 million men – and 0.4 percent of the female population either cannot distinguish red from green, or see red and green differently. It has been found that more than 95 percent of all variations in human color vision involve the red and green receptors in male eyes. It is very rare for males or females to be “blind” to the blue end of the spectrum.

TREACHER COLLINS SYNDROME An English surgeon named Edward Treacher Collins discovered this medical condition in 1900. During that time, he was able to describe the essential traits of the disease. He was also an ophthalmolog

ist. One of his widely recognized works was entitled “Researches into the Anatomy and Pathology of

the Eye,” which was released in 1896. The prevalence of this condition is one in every 10,000 births. An affected parent has a 50percent chance (1 in 2) of passing it on to each child. This is a chance event and cannot be altered. The severity of facial abnormalities in a child who ineherits the altered gene cannot be predicted. About one child in every 50,000 is affected Problems range in severity from mild to very severe. In most cases, the child’s intelligence is normal. Approximately 1 in 50,000 or 0.00% or 5,440 people in USA.1,724 people in Philippines SPINA BIFIDA Spina bifida was discovered by Professor Nicholas Tulp.

He named the disease and also gave detailed descriptions of it. This condition is said to have existed 12,000 yrs. ago. Spina bifida, in a form called spina bifida cystica was discovered nearly 4000 years ago. That is the earliest date that any type of spina bifida was recorded. A study conducted with mothers who had prior spina bifida births indicates the incidence of spina bifida can be decreased by up to 70% when the mother takes daily folic acidsupplements prior to conception. Spina bifida is one of the most common birth defects with a worldwide incidence of about 1 in every 1000 births. ALBINISIM Albinism was discovered by Sir Archibald Edward Garrod, an English scientist and physician. It was discovered in 1908 by a man named Sir Archibald Garrod. According to Wikipedia, the incidence of albinism is 1 in 17,000, which is 0.0059%. 1 in 70, or 1.4% are carriers.The estimated 2007 population of the US is 302,854,000 (also from Wikipedia), so that would mean there are approximately 1,786,837 albinos in the US. I’ve only ever met or seen one. I also know a family of carriers of the recessive gene.

BIPOLAR DISORDER It was first identified in 2nd century by ancient Greek physician Aretaeus of Cappadocia. Jules Gabriel Francois Baillarger, a French psychiatrist separating the two disorders through his studies. In 1913, German psychiatrist Emeril Krapelin defined it as manic depression. About 2.4% of people around the world have had a diagnosis of bipolar disorder at some point in their lifetime, according to the first comprehensive international figures on the topic. RETINOBLASTOMA The first description of the tumor retinoblastoma was done by Rudolph Virchow. This was in 1864. It was later when the actual name was given to it. Retinoblastoma is diagnosed in 250 to 350 children per year in the United States. It accounts for about 4 percent of all cancers in children younger than 15 years.

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