This website uses cookies to ensure you have the best experience. Learn more

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.
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...

Find Another Essay On Angelman Disease: Dr. Harry Angleman

A Genetic Engineering Revolution Essay

1020 words - 5 pages genetically transmitted diseases in the human race such as Angelman syndrome, Canavan disease, Color blindness, Cystic fibrosis, Down syndrome, Duchenne muscular dystrophy, Neurofibromatosis, Phenylketonuria, Sickle-cell disease, and Turner syndrome to name a few. Many of these either are caused by mutations of chromosomes and genetic information during meiosis or are dormant traits passed on from generation to generation manifest only in some

Genetics and Epigenetic: Gene Expression and Regulation

2000 words - 8 pages nevertheless can be heavily influenced by several factors such as; • Age • Environment & life style • Or disease state. “According to Dr. Lipton, the true secret to life does not lie within your DNA, but rather within the mechanisms of your cell membrane.” There are 4 main mechanisms of modification and regulation of gene expression; DNA methylation, Chromatin Remodeling (architecture), Histone Modification and RNAi (interference/interactions

what is Kawaski Disease and why isn't there a way to prvent it?

2135 words - 9 pages !Meanwhile,"Kawasaki Disease Causes, Symptoms, Treatments, & More", (n.d.), states, “A child who has damaged coronary arteries may be more likely to have a heart attack as a young adult. In my opinion, though it is implied that a child may have a heart attack later in life, this is not something that I would be willing to leave to chance. A little “Superhero” Harry Hitlon, now 4 years old, had KD when he was only 9 weeks old. His parents described

Analysis of Being Sober by Doctor Harry Haroutunian

995 words - 4 pages should be adopted by everyone because it is so helpful in my life. Reading this book “Being Sober” by Dr. Harry Haroutunian was an eye opener when it comes to helping families understanding addiction and how everyone needs to surrender to the same words

Nuclear Holocaust

1633 words - 7 pages relatively new and unexplored during the late 40’s and early 50’s. In October 1946, United States president Harry Truman assumed the responsibilities of the Atomic Energy Commission, or the AEC, and appointed five men to serve on the AEC on an interim basis (Ball 22). However, into Truman’s second term as president, Russia implied to the world that they were developing a nuclear arsenal. This led to two major American decisions which were

The Blunt Truth

1177 words - 5 pages marijuana related offenses, which could easily be diminished by decriminalizing marijuana. Harry G. Levine and Loren Siegel of the Marijuana Arrest Research Project stated in their online article that, “Over the last fifteen years, a single arrest for marijuana possession, including all police and court expenses, has cost from $1,000 to $2,000 or more, conservatively estimated.” The money spent on these arrests begins to accumulate into a profuse

The Immortal Life of Henrietta Lacks Exposes Racial Division in America

1748 words - 7 pages , millions of individuals died from the transmittable, contagious disease. Animal experiments showed the dangers of the pellagra disease. Hundreds of doctors, including Harry Berkefeld who worked for the U.S. Public Health Service, knew the potential dangers of the pellagra disease, but failed to take action since most of the deaths occurred in poverty-stricken black populations. Ultimately, the U.S. Public Health Service failed to operate its

The 1918 Influenza Pandemic

2504 words - 10 pages several times we ran out of boxes to bury them in, and had to put their bodies in cold storage until more boxes were shipped in. It was horrible.”[14] J. H. Kimbrough from Alabama remembered the Herculean efforts of the local country doctor. “The red headed Dr… was on duty day and night. His fight against that dreadful disease should never be forgotten. He only stopped at home long enough to snatch a bit and feed his horse for the next call or trip

The History of Euthanasia

1426 words - 6 pages with multiple disabilities to let the child die instead of performing surgery that would save its life. In the film which was released in April of 1917, depicts the theory that disabilities are associated with disease. The film was mostly based on the care of Anne Bollinger’s deformed infant daughter. On November 12, 1915, a badly deformed child was born to Anna Bollinger. Her doctor discussed with the hospital’s chief of staff, Dr. Harry J

Aspartame Poison Century

1158 words - 5 pages dysfunction of the thyroid) f. Chronic fatigue syndrome g. Epstein Barr h. Parkinson's disease i. Alzheimer's j. Diabetes k. Mental retardation l. Lymphoma m. Birth defects n. Lupus Others. Death! In pregnancy, the effects of aspartame can be passed directly to the fetus, which is sensitive to small doses. Fetal tissue cannot tolerate methanol, and the American physician Dr. James Bowen calls NutraSweet instant birth control. The

Critical Review of The Old Man Told Us (Excerpts from Micmac History 1500 – 1950)

1821 words - 7 pages does exist is typically dominated by the colonial perspective. In her own words Whitehead’s stated goal of this text is to “counterbalance such works, by restoring to our collective memory – whether we are Micmac or not – a sense of the individual and specific.” Dr. Peter Christmas, in the Forward to the text, accurately describes The Old Man Told Us as a “source book” and Whitehead in her introduction describes the book as a “historical jigsaw

Similar Essays

Angelman Syndrome Essay

551 words - 2 pages Angelman's are "spontaneous," meaning there is little chance of succeeding children having the syndrome. (Rare Pediatric)There is no cure for Angelman Syndrome. The treatment includes therapy for the physical and behavioral problems associated with the disease. The seizure disorder can often be difficult to treat. Programs for the special educational needs of the children are usually helpful. Angleman Syndrome also cannot be prevented. Since it is

The Effects Of Angelman Syndrome On Behavior, Cognition, & Development

929 words - 4 pages characteristics first noted by Dr. Harry Angelman. He summarized his findings in 1965 by stating that the children demonstrated 7 characteristics. Very obvious indentions in the occipital portion of the skull also associated with Down’s syndrome. As the child with the undiagnosed AS grows, more physical development begins to show. The original paper produced by Harry Angelman, observed other developmental problems such as low level visual acuity, abnormal

Angelman Syndrome Essay

4144 words - 17 pages develop drugs using therapeutic strategy for reactivating functional but dormant alleles.First reports of the Angelman syndrome came from Harry Angelman, a pediatrician working in Warrington, England describing the syndrome in a paper published in 1965. Angelman "...first reported three children with this condition in 1965 . . . Angelman later described his choice of the title "Puppet Children" to describe these cases as being related to an oil

Angelman Syndrome And Prader Willi Syndrome Essay

1661 words - 7 pages divergent effects due to imprinting. The epigenetic mechanics of the disorders interested me, and therefore, I took this opportunity to examine them to a greater level of depth. A Historical Sketch Angelman syndrome was discovered by Dr. n Angelman, who described the first cases in 1965, describing the afflicted children as “puppets”. This led to the name of Happy Puppet Syndrome, which was the term used to refer to the disorder until the