Friedreich's Informative Speech

Hello everyone and good afternoon, I am professor Villasana and I come here today from Stanford University. This evening I will be explaining to you all what Friedreich's Ataxia is and how it is that this condition comes about in the human body. I plan on simplifying the explanation of this complex genetic condition and educating you all a bit more of this disease to also spread awareness. First of all, what is Friedreich’s Ataxia? This is a life-shortening condition that alters with the body’s nervous system as well as the heart. An individual is born with this, and in most cases, onset symptoms are viewed in children ages five through eighteen. It is very uncommon for an older adult to have onset symptoms since it is something that is obtained

Although there will certainly be symptoms experienced, the severity of them can vary depending on the person affected. Usually, the first symptom is loss of balance and coordination. The effect that the disease has on the legs and torso can cause frequent falls as well as unsteady walking. Muscles in the legs become weak over the years, causing the action of walking to become an extremely difficult task. Later, the tongue, as well as other facial muscles, become weak making it hard to speak or swallow food. In addition to these harsh symptoms, an individual can also experience loss of sensation, but this is usually only found out through lab testing. Inversion of the feet and curvature of the spine make daily activities more painful for the people with this condition. See figure one to view an example of inversion of the feet. This list continues on to cardiac abnormalities which happen in about seventy-five percent of the affected population. This is the leading cause of death in Friedreich’s Ataxia because the heart undergoes an enlargement. Furthermore, the heart either beats too fast or too slow which cause other symptoms that add on to the life threat.

This will help me further explain how it is that I performed an experiment dealing with Friedreich’s Ataxia. A transgenic animal is an animal that has had a foreign gene intentionally put into their genome. This results in a genetically modified offspring. (6) My lab partners and I created something very similar to this on mice in order to find out a bit more about FA, or Friedreich’s Ataxia. First, we obtained a female mouse and retrieved an egg of hers to fertilize it on our own. We then used a very fine needle to insert the defective FX gene into the genetic material inside. Finally, that same egg was put back into the female mouse so that it could start developing and growing inside of her. (7) The offspring was shortly produced afterwards and was under constant and daily observation by us. We also took a sample of DNA from the offspring to ensure that they obtained the genetic condition. Furthermore, observation for symptoms were made and kept track of, for signs of progression. I am proud of the results we have gotten and the success we have accomplished through these