Angelman Disease: Dr. Harry Angleman Essay

1303 words - 5 pages

Angelman disease was discovered and named by Dr. Harry Angleman in England in 1965. He was observing several children that had the same symptoms that include unusual happiness, no speech, seizure disorders, mental delay, and similar facial expressions. Dr. Angelman described these patients as “happy puppets” or “angles” because of their always happy facial expressions and youthful look. After diagnosing these children as puppet children, he then went on to write a paper about his discoveries. In his paper, there was no cause for the disease because the Dr. was not sure how it was caused.
In 1980, the first reported case of Angelman disease was reported in America. As more and more children were being diagnosed with Angelmans disease, a professor from the University of Florida, Dr. Charles Williams, started researching the disease. Years went by with no progress, but then in 1987 Dr. Williams discovered that a code was missing from chromosome 15. This new information was a breakthrough, but it would still until 1997 to figure out that the UBE3A gene on chromosome 15 was mutilated or missing in patients diagnosed with Angelman disease. Since 1997 doctors and scientists have been able to find that Angelman disease is a neuro-genetic disorder which means that Angelman disease is very complex and attacks the nervous system. They have also been able to determine that the disease is rarely inherited and that the mutilation of the UBE3A gene occurs during sperm and egg formation.
Epidemiology
Ever since the discovery of Angelman disease, studies have been conducted in order to find out how common the disease is, how to best diagnose the disease, and whom the disease affects. The most accurate data that has ever been collected has come from a study that was performed in Sweden and Denmark. The study found that in order to get the best results, you must test children between the ages of six to thirteen that have Angelmans disease. During these years of life, the symptoms and key factors to the disease are most noticeable for doctors to see. During the study, doctors also discovered that Angelman disease is not inherited, but rather developed when the sperm and egg are formed. After their study of patients with Angelman disease, doctors were able to determine that the odds of developing the disease were 1/15,000. In a more simple form, if you would live in an area with a 200,000 birth/year rate, there would be 13 children born with Angelman disease. In the United States, there are less than 200,000 cases of this disease, so it is considered a rare disease.
Modes of Inheritance/Causes
Mostly every patient that has ever been diagnosed with Angelmans disease has had no occurrences of the disease in his or her family. The disease is contracted randomly when sperm and eggs are formed in the body. Angelman disease is almost never inherited, but it is possible to inherit the disease. In mostly every case, the UBE3A gene that is...

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