Fragile X syndrome
Genetics is the branch of biology that works with inheritance, especially the functions or genetic transmission and the variation of inherited quality around similar or related organisms. A genetic disease is a genetic disorder that changed the numbers or shape of a chromosome by adding, subtracting or switching a part of a chromosome. Genetic disease that I chose for this project is “Fragile X syndrome”.
Fragile X is caused when a single gene fails to produce protein necessary for normal brain function. At this cause, anyone can be born with it, but there is slight bigger chance that the offspring will be born with Fragile X if the parent is affected by it. The most common symptoms are: mental impairment, development delay, large ears, learning disabilities, sensory issues, and seizure disorder. Although different people can have different symptoms and be affected differently.
Fragile X occurs when a single gene fails to produce protein necessary for normal brain function. Fortunately scientists are creating new “drugs” that will work on every symptom.
The treatments are prescription drugs and vitamins for their symptoms. The drugs work for the following 24 hours, after that it starts losing its affect and make the situation 2 times worse than before. This pattern can be repeated depending on the symptom and the affect of the drug.
The disease can be diagnosed when the body and mind starts developing; when the child is 3-18 months. Early diagnostics show little symptoms and evidence of Fragile X when compared to child hood. Doctors commonly diagnose by looking at the rate of speed the eyes change position. In this case, the eyes would move mostly up and down. (Not referred to REM)
Genetic counselling is the process taken by patients or relatives at risk of inheriting a disorder are advised by the nature and probabilities in which it can be given or developed.