Genetic Disorders Research

A genetic mutation is a permanent change in a DNA sequence. These mutations can be very large or very small ranging from one DNA base to a large segment of a chromosome. Genetic mutations can be inherited from a parent or can be obtained through a person’s lifetime. People have two copies of each gene (one acquired from each parent) The two copies of the gene may be exactly the same or be slightly different versions called alleles. A genetic disorder is caused from an abnormality in the chromosomes or alleles.

Angelman Syndrome is a complex genetic disorder that mostly affects the nervous system. It is estimated to affect 1 in12,000 to 20,000 people. It results from a loss of the function of the gene UBE3A. People normally inherit one copy of this gene from each parent. Both copies are turned on in body tissues. However, in certain parts of the brain, the only copy inherited is from the mother. This mutation is caused by genomic imprinting. If the UBE3A gene is lost, they will have no active copies in some parts of the brain. Most cases of Angelman Syndrome occur when a segment of the maternal chromosome 15 containing this gene is deleted. The causes of Angelman syndrome are unknown in 10 to 15 percent of affected individuals. Some characteristics include developmental delay, intellectual disability, speech impairments, and difficulties in movement and balance. Most children with Angelman Syndrome suffer from epilepsy and display abnormal qualities in young ages. They typically display frequent smiling, laughter, and hand-flapping movements. Hyperactivity and a short attention span are common. Other physical characteristics include pale skin and light colored hair. As people with Angelman syndrome age, the disorder becomes less excitable. However, affected people tend to still have intellectual disabilities, speech impediments, and seizures.

Stem cell research takes primitive human cells and develops them into most any of the 220 varieties of cells in the human body. Stem cell research is used due to the hope that it can uncover treatments and possibly cures for some of the worst diseases in the world. However, it includes fears of human cloning and has concerns over the ethics of destroying human embryos. For this reason, SCR is very controversial due to the destruction of fertilized human eggs when harvesting embryonic stem cells, therefore killing the human child. Currently, however, scientists and researchers are only using embryos that are unwanted and would not be given an opportunity to develop. I feel that SCR is acceptable as long as the embryos were not wanted. I don’t think SCR should be conducted on embryos that do have a chance of developing into humans. Stem cell research is not in great use for developing a cure for Angelman syndrome as much as it is in the affects of Angelman syndrome such as scoliosis.