Achromatopsia Essay

The traditional Chinese treatment of acupuncture is an affective alternative medicine that has been around for thousands of years. Acupuncture is one of the most researched and documented alternative medicines around (Acupuncture). Although a vast majority of people believe Western medicine is the only cure to sickness, many people benefit from acupuncture everyday. Most people disregard the ancient art all together without giving it a chance because are scared of the needles it involves. Also, since no accurate scientific explanation of how and why it works has been found, people shy away from it. The healing powers of the body are taken to a whole different level with this alternative medicine.

Achondroplasia (ACH) is the most common form of short-limb dwarfism occuring in 1 in 15,000 to 28,000 births and appears to be slightly more prevalent in females, but indiscriminent toward race (1-3). Evidence has been found in Egypt for cases of ACH dating back as far as 4500 B.C. (4). In simplest terms, ACH is a disease where the dwarfing of bones formed in the cartilage occurs (5). There are many features that accompany this disease including rhizomelic (proximal) shortening of the extremities, megalencephaly (enlarged brain), short stature, trident hand, and frontal bossing (prominent forehead) (1, 3, 4, 6-8). Expression of this gene at high levels is primarily found in cells of the nervous system and the cartilage rudiments and

■ Is there a cure to mutations? If so, what is the name of the cure called?:

Retinitis pigmentosa is a group of inheritable diseases that is characterized by gradual deterioration of the photoreceptors in the retina. The photoreceptor cells in the retina, rod cells, are light sensitive cells that are able to sense low levels of light. The frequency of retinitis pigmentosa is one in four thousand births (Deng et al., 2015; Fahim et al., 2012; Haddad et al., 2016; Shu et al., 2012) People affected by retinitis pigmentosa will typically exhibit symptoms of night-blindness first, and this will precede a loss in the patient’s visual acuity field that starts from the outer edge and gradually moves inward resulting in a much smaller visual field and loss of peripheral vision, also known as tunnel vision (Haddad et al., 2016).

This argumentative article is not a scientific resource written by a professional in the area of biology or genetics. While the author uses current scientific recourses in his argument, the language shows a biased opinion against the controversial topic. Overall, if the purpose of using this article is the use of scientific information, then this article is not appropriate, however, it can be used to show an example of someone’s argument against the

The standards for dogs who tend to have brachycephalic syndrome should be changed to allow them longer snouts. These animals have suffered for too long because of their incestuous breeding, facing multiple health and breathing problems. If the AKC changed their standards to allow for longer snouts, they would be happier and healthier

Helen Thompson once wrote, “In riding a horse we borrow freedom.”[3] People have always been astounded by the magnificence of horses. They were always seen as majestic, free, strong, and loyal. It was at the Helsinki Olympics in 1952 that Liz Hartel admitted that riding a horse helped her recover from polio. Soon after her speech, in the 1960s, therapeutic riding centers were created in Europe, Canada, and the United States. It was also during the 1960s, that the horse was used as an adjunct to physical therapy in Germany, Switzerland, and Austria; and the practice was named hippotherapy. This concept quickly made its way to the United States, and the North American Riding for the Handicapped Association (NARHA) was created in 1969. Thereafter,

Alexander Disease is a rare defect involving the nervous system. It is part of a classification of uncommon genetic disorders called leukodystrophies that affect the central nervous system by interfering with the growth and nourishment of the myelin sheath. Myelin sheath shields nerve fibers and promotes rapid transmission of nerve impulses. If myelin is not properly nurtured, the transmission of nerve impulses can become disrupted causing serious impairment of nervous system functions. Although a majority of cases with early onset exhibit a distinct deficiency in the formation of myelin, white matter defects are sometimes not detected in cases accompanying later onset. Contrary to its classification, the universal characteristic among all Alexander disease cases is actually the presence of atypical protein compounds called Rosenthal fibers. They present themselves in a particular type of glial cell found in the central nervous system known as an astrocyte. Glial cells provide nutrients for neurons, absorb dead neurons, and physically reinforce their structure. Rosenthal fibers are composed of substantial quantities of glial fibrillary acidic proteins (GFAP). GFAP is known to sustain the mechanical strength of astrocytes, but in this case it is a defect in GFAP that has been found to interfere with the function of astrocytes and ultimately causes the leukodystrophy. When tested on mice, the mutation of GFAP caused a new, toxic effect, rather

The white (w) and garnet (g) genes are sex-linked—both located on the X chromosome. The white locus (location: 1-1.5) has many alleles and can be responsible for a large range of eye color phenotypes. An allele of white, wcf, results in reduced levels of red and brown pigment (Mackenziea, et al. 1999). This causes a darker eye color, similar to that of the Rust mutant. Mutations in garnet (location: 1-44.4) are characterized by reduced levels of two distinct components—pteridine and xanthommatin, which are red and brown pigments respectively (Lloyd et al.

Fish-eye disease is a rare genetic disorder. Most patients who diagnosed with this disease are at their young adult ages. Corneal opacity has been so far the only clinical sign/symptom that discovered for this disease. The cornea of fish-eye disease patients becomes cloudy as the disease progresses and may leads to significant vison reduction. The fish-eye disease patients’ cloudy cornea are like boiled fish eyes. The disease was named for this reason (Fish eye disease).

Synaesthesia Correspondences Nature is a temple where living pillars Let escape sometimes confused words; Man traverses it through forests of symbols That observe him with familiar glances. Like long echoes that intermingle from afar In a dark and profound unity, Vast like the night and like the light,

Retinitis Pigmentosa (RP), also known as rod cone dystrophy, is a rare genetic disease that affects the retinas in the eyes. In the United States, it affects 1 in 4,000 people making it the most common inherited retina disease (Nash, et al., 2015). This disease usually leads to blindness because of the deterioration of the light-sensing cells in the retina. Within the retina, there are cells called rods and cones. For people who have RP, the rods, which are responsible for night and peripheral vision, are the cells that deteriorate first. After the rods are affected, the cones follow. Cones are responsible for color perception and central vision. Usually, symptoms of retinitis pigmentosa show up during childhood. At this stage in life, children affected with this disease have a loss of night vision. As these children become adults, the disease causes their eyes develop blind spots in their peripheral vision and eventually these blind spots will merge and create tunnel vision (Nash, et al., 2015). Over time, the disease will affect central vision. Central vision

Oculocutaneous albinism or OCA is a set of four (or seven, including subdivisions) rare genetic disorders that are caused by mutations in up to seven different genes and are characterized by a complete lack or reduction of the pigment melanin in the eyes, hair, and skin. An estimated 1 in 20,000 people worldwide are born with this disorder. The conditions of OCA are caused by mutations in genes that are responsible and necessary for producing the melanin pigment in specialized cells (melanocytes). Not having enough of the melanin pigment can result in abnormal eye development, resulting in vision problems, and light skin that is easily damaged by the sun, at times resulting in different skin cancers, including an aggressive form called melanoma. Symptoms of this condition can also include nystagmus (involuntary back and forth movement of eyes), iris transillumination (reduced pigment in iris), reduced pigment in the retina, macular hypoplasia (poor development of the macula, resulting in abnormal foveal development in the retina), generally poor visual sharpness, photophobia (increased sensitivity to light), and strabismus (abnormal connection of the nerves from retina to brain, keeping the eyes from tracking

Heresthetic is defined as a poltical strategy, coming from a Greek word of choosing and electing This term was coined by William Riker who describes it as having three categories: agenda control, strategic voting, and the manipulation of dimensions.  Agenda control is the manipulation of agenda to achieve desired outcomes. Strategic voting is the practice of controlling the outcome by using voting procedures. And lastly, the manipulation of dimensions is the redefining of situations to create a stronger alliance. The practice of heresthetic5 is definitely not an easy task because of its complex manipulation strategies that would often require a team of people to accomplish. In order to implement heresthetic into a political campaign or agenda, they would need to have the connections to a greater source of information in order to manipulate the media.

The gene mutation that is responsible for Achondroplasia is FGFR3. It is autosomal passed down from parent if with the abnormal gene. The parent often may have the disease. It can develop from new mutations in the dominant affected gene. FGFR3 is a protein called fibroblast growth factor receptor.