Genetic disorders

autosomal dominant genetic disorder, is abnormalities of the face, head, feet, and hands. The disease is caused by a mutation in the ATP6V1B2 gene on chromosome 8p21 or a mutation in the KCNH1 gene on chromosome 1q32. It affects individuals who are of Eastern Indian ancestry from India and the West Indies and also individuals from European descent. Zimmermann Laband Syndrome is inherited as an autosomal dominant trait, but also may exist as an autosomal recessive trait. This disease is genetic…

is a relatively new they wouldn’t of had access to PGD therefore couples wouldn’t of had the choice to continue with the pregnancy or not or decide whether they want to keep the embryo or discard it. They wouldn’t have known if their child had a genetic condition. Also the couples who had trouble conceiving wouldn’t of had a chance to have a biological child they would of had to adopt a child or choosen to have a surrogate mother or even made the hard decision of not having a child. The…

Ehler’s Danlos, EDS for short, is a genetic connective tissue disorder caused through abnormalities in the body’s processing, production, and or integral structure of collagen(Mayo Clinic, 2017). Ehler’s Danlos is what numerous call chronic and degenerative; a patient may endure this particular condition with no hope for a cure throughout their entire life, as the disease rapidly progresses. Most diagnoses face a lifelong commitment to the syndrome and pains that plagues them. This is…

specific treatment is available for achondroplasia. Achondroplasia The height of a human being can usually be linked to genetics. Though it is rare, every newborn has a small chance of developing dwarfism. The most ordinary form of dwarfism is called achondroplasia, literally meaning, “without cartilage formation.” The name comes from the complications in ossification caused by the genetic defect. The gene responsible for the defect was discovered in 1994 by Dr. John Wasmuth, at the University…

DEFINCIENCY OF ENZYME beta- hexosaminidase A CAN CAUSE TAY-SACHS DISEASE DEFINITION: Tay-sachs disease is a rare genetic disorder found commonly in isolated genetic such as Jewish Population. This is also known as a fatal genetic lipid storage disorder in which harmful quantities of cell membrane components named ganglioside accumulate in the brain stem cells, eventually leading to the premature death of cells. II. SYMPTOMS: Diagnosis can be confirmed either by enzyme analysis or mutation…

found within Cellular and Molecular Biology, is a fatal genetic disorder that causes progressive breakdown of nerve cells in the brain. It is a rare autosomal dominant progressive neurodegenerative disease. In this essay, Huntington’s disease will be discussed in reference to the biology behind the faulty HTT gene, the signs and symptoms associated with the disease, along with coping mechanisms and outcomes for those suffering from the disorder. To begin, we will discuss the mutant HTT gene…

further research in hopes of medical advancements and encourage newborn screening in under developed countries. Abbreviations: PHE, Phenylalanine; PAH, Phenylalanine Hydrolase; PKU, Phenylketonuria Keywords: Phenylanine Phenylketonuria The genetic disorder Phenylketonuria effects approximately 1 in 10,000 to 15,000 newborns annually in the United States…

cases are caused by a dominant genetic defect, which means that the child only needs one copy for the mutated gene to have osteogenesis imperfecta. Only 10 or 15 percent of cases are because of a recessive gene. The child in this case has a 25 percent chance of contracting OI rather than the greater chance with the dominant gene. In Conclusion, children with osteogenesis imperfecta are champions as they grow up and fight their genetic disorder. This disorder affects the child, their family…

Epidermodysplasia Verruciform however this mutation is extremely rare. It is also referred to as the tree man disorder. The mutation occurs when the the skin begins to form a disorder identified as rising a wart like tissues that may occur anywhere on the body. These tissues are caused by infection with the human papillomavirus. Progeria is another example of a harmful mutation. Progeria is a genetic mutation that causes changes in the aging in children. However this mutation is a rare…

now, the science community and religious communities are constantly evaluating the ethical morality of biotech engineering. Journalist Kelsey Dallas of Deseret National News wrote an article titled, “Finding God in one of Science’s Biggest Debates- Genetic Editing” in face of a revolutionary machinery called CRISPR. Scientists guarantees CRISPR will rid the world of suffering; however, many people of faith have already voiced their distrust in the system stating that it would not lead to an…