What Is Down Syndrome Essay

“One in every 691 babies in the United States is born with Down syndrome- about 6,000,000 people each year.” Down syndrome is one of the more known genetic disorders with more than 38% of Americans know someone who suffers from it. Also known as other names such as Trisomy 21, 47XX+21, and 47Xy+21. Down syndrome was first identified in 1862 by physician John Langdon Down, who the condition is named after. However, it was not identified as a chromosomal irregularity until Jèrôme Lejeune and an amazing team of geneticists discovered it in 1958. Down syndrome’s most common form is Trisomy 21 which is caused by a chromosomal abnormality called nondisjunction. More than 90% of the time Down syndrome is caused by an extra copy of chromosome 21 …show more content…
Through prenatal and diagnostic testings they can diagnose the child before it is even born which gives the parents time to prepare if the test comes back positive. There are various types of symptoms for people with Down syndrome from physical ones to intellectual and developmental. Some of the physical symptoms include low muscle tone, a flat facial profile, an upward slant to the eyes, and a small nose. Other physical symptoms are an excessive ability to extend the joints , small skin folds on the inner corner of the eyes, and excessive space between the big and second toe. Intellectual and developmental symptoms are short attention span, poor judgment, and impulsive behavior. More are slow learning, delayed language and speech development. Everyone with Down syndrome with experience some obstacles in life as an effect of their cognitive delays but they are still able to pursue hobbies, jobs, and school. Since 1983 the life expectancy for someone with Down syndrome has risen from 25 years old to now 60 years old. Down syndrome is not more common in one ethnic group than another, but it is however more common with mothers who are over the age of 35 years old when they have a …show more content…
One medical study that has been done to find a cure for Down syndrome is XIST chromosome therapy. “This gene, called XIST, plays a role in turning off one of the two X chromosomes in female mammals, and the UMMS researchers found that it was effective at repressing the genes across the extra chromosome in their laboratory stem cells.” (McNamee, "Down syndrome: what is the current focus of research?", 2014) Dr. Jeanne Lawrence, PhD, from University of Massachusetts Medical School and her team are the ones who were able to come up with this technology. It has shown great beginning success in silencing the additional chromosome, through gene therapy. The way they were to accomplish this outcome was by taking the additional copy of chromosome 21 and inserting an RNA gene into it. As they did see some success they report that the type of the technology needed to make this a full on cure wont be ready for a long time but eventually it will hopefully be