Problem Statement The genetic disorder we chose is called Fragile X Syndrome. There are particular reasons as to why we chose to conduct research on this disease. One is because it is very unfortunate that this syndrome can actually be the leading cause of autism. Our goal was to aim for a better understanding of how this deeply affects people’s everyday life. Not only that, but we also want to raise awareness of this syndrome so other people can join foundations and institutions to help find research and find a cure. If this is done scientists will be able to use this genetic information to know what is happening with the body and will be able to fix it. History of DiseaseThe first recorded instance of Fragile X Syndrome was in an article written by J.
Purdon Martin and Julia Bell. In the article, they describe a family in which there were eleven known instances where mentally deficient sons had been born from mothers of normal intelligence. Because those who are most severely affected are males, some information was revealed. It was shown in 1943 by Bell and Martin that Fragile X Syndrome is a sex-linked disease.
Males are more likely to be affected with this syndrome than females. They also tend to have more noticeable symptoms. Then, more than 10 years later Herbert Lubs developed chromosomal tests for this syndrome.
In the late 1970s these tests began to be used extensively enough on patients to find out that the FMRP gene was responsible for this syndrome. Scientific ExplanationFragile X Syndrome is a common form of a genetic condition that causes intellectual and developmental disability. There are some distinguishable features such as big ears and forehead, a long face and hyperactivity. The symptoms that are seen from this also include intelligence problems, social, emotional, and language problems, as well as seizures. This syndrome is caused by a problem in the gene FMR in which a long arm of a chromosome shuts down. That gene normally makes the protein FMRP which is essential for successful brain development. Therefore, elucidating the impression that such symptoms develop.
CureMost genetic disorders don’t have a real cure. This is because we have to consider the fact that new mutations and problems in chromosomes occur all the time. Treatments vary based on the disorder. Unfortunately, Fragile X Syndrome has no known cure. Nevertheless, treatments are available to lessen symptoms.
Behavioural, physical, and educational therapy can help as well as specific medicines. However, if patients are treated right as first symptoms appear this can be very beneficial. Researchers The people that conduct research on Fragile X Syndrome are mostly institutes and foundations. The FRAXA Research Foundation dedicates their studies to Fragile X Syndrome and they work in the lab to find a cure and learn more about this syndrome. The National Institute of Child Health and Human Development is another institution that has various articles in which they have extensive information of opportunities patients’ families can take and they research this syndrome. These foundations and organizations aim to find a cure and to conduct research. Works CitedMartin, J. Purdon, and Julia Bell.
“A PEDIGREE OF MENTAL DEFECT SHOWING SEX-LINKAGE.” Journal of Neurology and Psychiatry, U.S.
National Library of Medicine, 1943, www.ncbi.nlm.nih.gov/pm.
c/articles/PMC1090429/?page=1″Fragile X syndrome – Genetics Home Reference.” U.S.
National Library of Medicine, National Institutes of Health, ghr.nlm.nih.gov/condition/fragile-x-syndrome.”Fragile X Syndrome: MedlinePlus.” MedlinePlus Trusted Health Information for You, medlineplus.gov/fragilexsyndrome.html.History of Fragile X Syndrome – Friends for Fragile X, www.friendsforfragilex.org/research/history.php.