Genetic disorders

Just as cell phones today have the capability of sending text messages to one another, so do standard household phones. With this text messaging available, the hearing impaired can communicate just as any other. Technology has made it capable to transmit not just the spoken word, but also the written word through telephone lines. Now that television shows and movies are equipped with the technology to include closed captioning, the hearing-impaired can view them. Listening devices can now be…

Disorders of sexual development (DSD) have been a topic of great interest as of late. Intersex, at its most basic definition, is when one does not ‘fit’ into the binary gender structure most commonly subscribed to in Western civilization; or, rather, having a variation of sexual characteristics or a combination other than the more common female to XX and male to XY. Research shows that 1.7% of the population has a DSD, considering the current population of the U.S., that would be approximately…

Cri du chat Syndrome Cri du chat syndrome is an uncommon genetic condition that is caused by missing genetic material on chromosome 5. Specifically a part on the small arm (p) of chromosome 5 is absent. The disorder occurs in 1 in 20,000 to 50,000 live births according to the US National Library of Medicine. What causes this to happen is currently unknown. Cri du chat syndrome was first described in 1963 by French geneticist Jérôme Lejeune. He noticed that several of his patients…

around the world. PCKD is a very complex group of disorders characterized by the formation and growth of multiple renal cysts, containing urine-like fluid, which displace renal tubules and frequently leads to end stage renal disease (ESRD). PCKD has two major forms and can be transmitted as autosomal dominant or recessive traits with variable expression. 1-3 Major advances have been done towards our understanding of the natural history, PCKD genetics, embryo- and cystogenesis, PCKD genes and…

Genetic testing is a common medical practice used by doctors and researches that identifies irregular mutations and/or defective genes that are susceptible to causing harmful genetic disorders. “One of a Kind” and “Advances in Kids’ Early Aging Disease” are two well-written articles that examine different genetic disorders and the threats they pose on children. Seth Mnookin, author of “One of a Kind,” tells the story of Bertrand Might, who at the time was the only known patient suffering from a…

were dominated (showed up) while others were recessive (hidden). What he didn’t know was that chromosomes contained the genes that were responsible for Mendelian Inheritance. Chromosomal inheritance helped connect the gap between genetics and inheritance. The “disorders” that the videos are referencing are essentially the results of when a disruption in the body causes it to not properly maintain…

Pompe Disease Plan For my graded unit I have chosen a genetic disorder called Pompe disease as my topic to research and write about. After looking at a number of different genetic disorders, I have chosen Pompe disease. This topic relates to the cell biology aspect of my course, where in cell biology we study the structure, the function and the physiological properties of a cell and through out this report I will be writing about the cells that are affected by pompe disease. This report will…

She might have trouble communicating with others or controlling her behavior. Currently, there is no known cure. Some individuals with the disorder engage in behavioral therapy to help their everyday life, but there is no set treatment for Angelman syndrome. However, Annie will be able to enjoy a normal life span even with the disorder.” Angela's anxiety seemed to gradually dissipate with my last sentence. “Okay, it could be worse. This is much better than a death sentence” Joseph replied…

Turner syndrome is a genetic condition caused by the absence of all or parts of the second sex chromosome. This condition only affects women and girls because the X-chromosome is missing or partially missing or rearranged. X-chromosome monosomy, X-chromosome mosaicism, and X-chromosome defects are common causes of the absence or alterations of the X-chromosome. Monosomy X occurs in about half of the girls with Turner syndrome. This means that each cell in each of their bodies has only one copy…

transmission rate. Another autosomal adisease is called sickle cell disease which is a mutation in DNA that causes hemoglobin to not be produced meaning that the red blood cells have a shrunken shape and they don’t carry oxygen as well. Sickle cell disorder is a recessive disease with incomplete dominance, which means that if an organism has at least one allele of the sickle cell disease the will show some symptoms of it, but if they have both alleles of the disease it will be much more serious.…