Question

Go to the National Human Genome Research Institute (<~~~~ hyperlinked here) or The Office of Rare Diseases Research (ORDR) (<~~~~ hyperlinked here) and research a specific Genetic Disorder.

Title your initial blog post with the specific Genetic Disorder you will be discussing; this is required so everyone knows which specific Genetic Disorders have been posted on. Then share with the class what you have learned about the Genetic Disorder by writing a full paragraph summary (150 words minimum) of what you have learned about the Genetic Disorder including: who is affected, what is the genetic abnormality, what treatments are available and what is the current state of research. Also, include a link to the specific URL (type the title, highlight it, then, click on the link icon to add the URL) where information on the Genetic Disorder was obtained so your peers can research it further

Answer 1

Genetic Disorder : Klinefelter Syndrome

Klinefelter Syndrome is a genetic disorder that mostly affects males.This disorder is caused by genetic abnormality that results in an extra Xchromosome in males which can be one or more.Males have one X and one Y chromosome but in this disorder males have an extra X chromosome.This results in appearance of physical traits that are usually not seen in normal males.The frequency of occurence of this disorder is 1 out of 1000 males.The extra X chromosome results due to uneven splitting of genetic material either in the egg or the sperm.The symptoms include wide hips, enlarged breasts etc.The treatments include use of hormone testosterone and the process is known as testosterone replacement therapy for sexual development. The treatment is should be started by puberty so that the males can have a normal body development pattern.Testosterone is given either through injection, skin patch or in form of gel.Sometimes this hormone treatment continues throughout the life of males.Males who have enlarged breasts can go for breast tissue removal via plastic surgery and they can even have a fertility treatment so that they can father a child.Some males have language and learning problems that can be treated via speech therapy and educational support.Current research includes experiments conducted on animal models so that genotype and phenotype correlation can be studied and the basic physiological and metabolic changes that occur due to an extra X chromosome in a male environment can be studied.Also,research on Klinefelter syndrome is mainly focussing to a cure to the disorder.

Links:

http://theconversation.com/scientists-may-have-found-a-way-to-overcome-common-genetic-causes-of-male-infertility-82604 :Scientists may have found a way to overcome common genetic causes of male infertility.

https://www.nature.com/articles/s41598-017-03371-y:Is there any clinical relevant difference between non mosaic Klinefelter Syndrome patients with or without Androgen Receptor variations.