Angelman Syndrome by John Fitzgerald

Prevalence of the disease

jfitzge2_2 — 2024-10-21 01:15:22 UTC

1 in 12,000 people across the world have Angelman syndrome, bringing the world total to approximately 500,000 individuals. However this number may be an underrepresentation of the syndrome as in many places the syndrome can go unidentified or misidentified as another genetic disease. (Angelman Syndrome News)

Description of the disease

jfitzge2_2 — 2024-10-21 01:15:26 UTC

Angleman's syndrome is a disease which impacts the nervous system. Symptoms of Angelmens disease can be divided into physical appearance changes, and behavioral changes. For physical symptoms, Angelman syndrome can cause scoliosis, wide mouth, gaps between teeth, and a generally lighter complexion in comparison to family members (NHS). Behavioral changes as a result of Angelman syndrome can include having a shorter attention span, frequent excitement and laughter, restlessness, and interestingly, a fascination with water (NHS).

Angelman syndrome does not have a significant impact on life expectancy, meaning those with this disease can live a near normal length life. (Angelman Syndrome Foundation).

Importance of understanding the disease

jfitzge2_2 — 2024-10-21 01:15:29 UTC

Understanding Angelman Syndrome is important in determining the likelihood that your child could have the syndrome. It is important for parents to understand Angelman Syndrome due to the nature of its inheritance. If parents have one child diagnosed with the syndrome, there is an increased likelihood that future children will also inherit a dysfunctional UBE3A gene and have the syndrome (NHS).

Mutation/Gene that causes the disease

jfitzge2_2 — 2024-10-21 01:15:32 UTC

In most cases, the parents of someone with Angelman Syndrome do not have the disorder. Rather, the disorder comes from when a gene known as the UBE3A gene is not functioning properly or missing entirely. This gene regulates the levels of several important proteins. In most cases this gene is inherited from a person's mother, and in those with Angelman syndrome the gene is not passed down properly. Although in other cases the gene can be missing from a persons father. In even less cases, the cause of the disease is not entirely clear to genetic experts (NHS).

Any known methods of testing and/or treatment

jfitzge2_2 — 2024-10-21 01:15:35 UTC

Identifying Angelman syndrome is important for an individual. Early signs for a child to get tested for Angelman syndrome usually come down to delayed early development, and other behavioral symptoms. The way to identify the syndrome is a blood test which will look for any missing pieces of a chromosome in the genome, specifically the UBE3A gene, and a diagnosis can be made (NHS).

Current Study Relevant to the disease with a description

jfitzge2_2 — 2024-10-21 01:15:38 UTC

Researchers at the University of North Carolina Chapel Hill are have been conducting chemical test in an effort to turn on the deactivated UBE3A gene present in Angelman Syndrome. They have identified a small compound with promise on animal subjects in increasing brain function. However, the scientists are working on these promising compounds and trying to locate the exact cells in the brain to target. Targeting the right cells could allow essential proteins to be made that are left out in a subject with Angelman Syndrome (The University of North Carolina Chapel Hill).

Works Cited column

jfitzge2_2 — 2024-10-21 01:15:42 UTC

McCormack, Joshua. “Researchers Identify Potential Treatment for Angelman Syndrome: UNC-Chapel Hill.” The University of North Carolina at Chapel Hill, July 18, 2024. https://www.unc.edu/posts/2024/07/15/researchers-identify-potential-treatment-for-angelman-syndrome/.

“Angelman Syndrome.” NHS choices. Accessed October 13, 2024. https://www.nhs.uk/conditions/angelman-syndrome/#:~:text=Angelman%20syndrome%20is%20a%20rare,need%20support%20throughout%20their%20life.

“What Is Angelman Syndrome.” Angelman Syndrome Foundation. Accessed October 13, 2024. https://www.angelman.org/what-is-as/#:~:text=Because%20of%20mobility%20issues%2C%20obesity,as%20seizures%20and%20aspiration%20pneumonia.

“Angelman Syndrome: Medlineplus Genetics.” MedlinePlus. Accessed October 13, 2024. https://medlineplus.gov/genetics/condition/angelman-syndrome/#frequency.

Responses

jfitzge2_2 — 2024-10-21 01:15:45 UTC