Angelman Disease: Dr. Harry Angleman

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 co...

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