Angelman Syndrome:



Angelman syndrome (AS) is a neuro- genetic disorder (Angelman syndrome) in which an individual experiences intellectual and developmental

delay, sleep disturbance, seizures, jerky movements especially hand-flapping, frequent laughter or smiling, and usually a happy demeanor.

AS is a genetic disorder where there is genomic imprinting. This is caused by deletion or when genes inactivate on the maternity inherited chromosome 15. This means that parents are carriers although one might not know and therefore it is silent. It is sister to the Prader- Willi syndrome which is also caused by the lost of paternal inherited genes therefore maternal imprinting takes place. Angelman syndrome was named after Dr. Harry Angelman, a British pediatrician who first detected this syndrome in 1965. (Angel)


Symptoms of Angelman Syndrome
  • Delayed in things such as in sitting, crawling and walking and other motor development
  • Talking problemsangelman-syndrome.jpg
  • Strange movements (puppet style)
  • Different walking style
  • Hand flapping
  • Hyperactive
  • Loving, happy
  • Laughter
  • Learning and intellectual disability –delay inall school areas
  • Small head
  • Epilepsy (occurs in 90 per cent of cases).

Characteristic Physical Features
The characteristic are not always obvious at birthbut as they grow older you can start to notice them
(Angelman Syndrome)
williams-syndrome-picture.jpg
  • Back of the head is flattened
  • Deep-set eyes
  • Extensive, ever-smiling mouth
  • Noticeable jaw
  • Widely spaced teeth
  • Lightly colored hair, skin and eyes. (Angelman Syndrome Foundation)

Treatment for Angelman Syndrome
There is actually no cure for Angelman Syndrome but children can benefit form treatment such as speech therapy, communication therapy, occupational therapy, physical therapy, behavior modification, special education and social skills training.(Genetic Testing for Angelman Syndrome 101) (Angelman)


Benefits:
The benefits of having this syndrome is that it has already been investigated therefore we know what is going on. The gene product UBE3A is not produced by neurons in tChrmosome_15.jpghe brain. This is why without UBE3A the neurons can’t function well. Angelman Syndrome creates big difficulties while learning and while functioning your body. These conditions cause them to have lack of ability to speak and have life debilitating seizures. All of this comes back to the lost of only one gene in the genome which is UBE3A. This is why, as we know what is going wrong, we can find a therapeutic procedure to fix and or restore UBE3A function to neurons. (Why There is Hope for a Cure) The brain and neurons in a person with Angelman Syndrome form correctly. This is a big deal because it means that the neurons could function correctly if UBE3A could be restored. It is UBE3A that doesn’t allow a neuron to function to its potential and is acting like a stop.
Mice that don’t have UBE3A in the brain have similar symptoms to Angelman Syndrome. These include learning difficulties, movement and balance disorder and seizures. Examinations say that (Chromosome 15.)

by modifying other gene products in the mice can lighten and or alleviate all of the symptoms of Angelman Syndrome. Moreover, work in Dr. Edwin Weeber’s lab has discovered that by restoring a working UBE3A protein into the neurons of an older mice that has Angelman Syndrome one can save learning defects, balance and body movements. This means that if we can restore the UBE3A function in the neuron of children and people with Angelman Syndrome, then their will be some improvement and some symptoms could be rescued.
There are ways to restore the functional equivalent of UBE3A in neurons and UBE3A itself.
One of the ways to restore this function is by resupplying UBE3A to all the neurons that lack it and need it. This might seem complicated but for a person that carries Angelman Syndrome, this can be very simple. Every human being has two copies of the UBE3A gene. One comes from your father and one from your mother. The problem comes with the mother genes. Angelman Syndrome have deletions to remove the others copy of UBE3A or can also have mutations that stops the mothers supplied UBE3A gene from being able to work. The solution comes when each of these individuals have another copy of UBE3A that is not being used.(Why There is Hope for a Cure) Therefore, the easiest way of fixing this is by finding a drug that will activate the normally silent UBE3A gene from the father. Investigations have figured out that UBE3A gene can be turned on in small degrees in several experiments. By applying the right conditions, neurons can turn this gene on but we still need to figure out the right drug that will turn this to a larger degree.

Another strategy is to find a way in which one can restore and save neuronal function by correcting the problem that is caused by the lack of UBE3A. We need to find a way to create a drug or a strategy that could enhance CaMKII activity in neurons that would benefit people with Angelman Syndrome.

To conclude, by finding the cure for this Syndrome, this will open gates to find the cure for many other diseases such as autism. It will teach us how neurons learn and function and increase our knowledge.

Limitations:
Many people question themselves, if it is so easy, why hasn’t it been accomplished by now?
To begin with all the research for a cure or treatment have only occurred recently. In 1997, research-showing loss of UBE3A was responsible for Angelman Syndrome. Ten years after the Syndrome was cured in mouse and since then research has progressed very fast. In general, Angelman Syndrome is very rare and most of the people don’t even know about this Syndrome. Additionally, doctors don’t even know about his problem because it only affects 1 out of 10,000 to 15,000 people (Angelman Syndrome Foundation). Therefore, there is not many people insisting researchers to find a cure. As Angelman Syndrome is very rare, pharmaceutics are not whiling to invest funds and time into developing something that will not be so successful in the market. It might take about 10 years for therapeutics to find the right cure. This procedure will take 15 to 20 million dollars into Angelman Syndrome now which is not much when we are comparing it to a 30 second commercial in the 2011 Super Bowl which could cost three million dollars. (Genetic Testing for Angelman Syndrome 101)


Economical:
Researchers are lacking resources to start this investigation. The National Institutes of Health in 2010 spent less than $500,00 on Angelman reaserch, which is not that, much money when we are talking about finding a cure for a disease. (Angelman Syndrome Foundation) As Angelman Syndrome is rare, it is difficult to find large numbers of researchers, becuase there is not much information. As I mentioned before, pharmaceutics don’t want to invest money into such a rare disease as this will not benefit them or bring any type of income. It will only cost 15 to 20 million dollars to find a cure for Angelman Syndrome which is not that much compared to other diseases such as cancer that the United States have invested $200 billion on research since 1971.( Angelman Syndrome Foundation)


Social:
This rare syndrome has not been found a cure yet. This is mainly because the amount of patients affected is not high meaning that the pharmaceutics don’t want to invest on a project that will not produce much. Although the idea that this syndrome is rare is good because not many people are faced with it, it is a disadvantage and indeed a big problem for the ones who are. Moreover on August 6 2011, Colin Farrell, an Irish actor attended the Late Show with David Letterman to promote his upcoming movie Fright Night. He there opened up and talked about his son that had being diagnosed with Angelman Syndrome. (Angelman Syndrome) This will not only promote this disease, but all those people who were watching or will watch the program will be informed and will want to know more about it.
Hand-flapping, hyperactive behavior and a short attention span can impair social interaction as well as their sleep may be very disrupted. These people need social skills therapy in order to help them be with people.
People with Angelman Syndrome are different from others. The typical behavior problems are feeding difficulties; disturbed sleep and have poor communication skills. However most of the people affected do have a good health and live a normal life although they need support.(Genetic Testing for Angelman Syndrome 101)


Works Cited:
Angelman. N.d. N.p., n.d. Web. 11 Mar. 2012. <http://webpages.scu.edu/‌ftp/‌mho/‌Chrmosome%2015.jpg>.

“Angelman syndrome.” Better Health Channel. N.p., 2012. Web. 11 Mar. 2012. <http://www.betterhealth.vic.gov.au/‌bhcv2/‌bhcarticles.nsf/‌pages/‌Angelman_syndrome?open>.

Angelman Syndrome. N.d. Bye Bye Doctor. N.p., n.d. Web. 11 Mar. 2012. <http://byebyedoctor.com/‌wp-content/‌uploads/‌2011/‌06/‌angelman-syndrome.jpg>.
“Angelman Syndrome Foundation.” Educational. N.p., 2011. Web. 11 Mar. 2012. <http://www.angelman.org/‌stay-informed/‌facts-about-angelman-syndrome---7th-edition/‌education/>.

Chromosome 15. N.d. N.p., n.d. Web. 11 Mar. 2012. <http://webpages.scu.edu/‌ftp/‌mho/‌Chrmosome%2015.jpg>.

“Genetic Testing for Angelman Syndrome 101.” Foundation for Angelman Syndrome Therapeutics. N.p., 2008. Web. 11 Mar. 2012. <http://www.cureangelman.org/‌what-testing101.html>.

“Why There is Hope for a Cure.” Foundation for Angelman Syndrome Therapeutics. N.p., 2008. Web. 11 Mar. 2012. <http://www.cureangelman.org/‌what-hope.html>.