An Overview of the Rare Disease Known as Kabuki Syndrome As I look to graduate, I become increasingly aware that I have my entire life to look forward to. Even though I will have struggles throughout my life, I still have my well being to fall back on. When all else fails, I am and hopefully always will be self-assured that I am here, healthy and able to bring myself through the worst of circumstances. This realization and knowledge has presented itself in the most realistic way just within
strategic direction was very interesting in that they essentially pursued a strategy that seemingly was purposely avoided by other players in the pharmaceutical industry (Schilling, N.D.). Their strategy centered on developing prescriptions for rare diseases. Typically “developing a drug takes 10 to 14 years and costs an average of $800 million to perform the research, run the clinical trials, get FDA approval, and bring a drug to market,” and in turn it is normally intuitive, from an economic standpoint
Geographic tongue is a disease that affects .6% of Americans. The papillae on the tongue is depleted which leads to several symptoms. The causes of outbreak are certain food types and sometimes stress. This disease gets its name because of the appearance when the tongue breaks out into lesions. It appears to look like a map of different countries on the tongue. The treatment for this disease is usually topical creams, antihistamines, and steroids. Life with geographic tongue is difficult but manageable
Congenital Insensitivity to Anhidrosis (or CIPA) is a rare genetic disease with the characteristics of not being able to feel any pain or temperature, and little or no sweating. It is inherited by an autosomal recessive pattern, meaning that both parents have a mutated NTRK1 gene, but they do not show any symptoms of CIPA. The damaged NTRK1gene produces proteins that cannot transmit signals. Since the neurons do not get any signals from the proteins, they perform apoptosis. Apoptosis is a process
Albinism is a rare genetic disorder, it is a condition that can be inherited and is present at the point of birth. A defect in one of the genes that produces and distributes melanin is what causes albinism. This can also be caused by a lack of melanin production. There are many different types and versions of albinism that vary in degree. Albinism is a genetic disorder that has a lack of pigment in hair, eyes, and skin. This makes the person, or animal appear white. People that have albinism, are
Introduction: Paroxysmal Nocturnal Hemoglobinuria (PNH) is a rare disease affecting 1-4 people per million. The median survival rate is 10-15 years, with 35% of patients diagnosed with PNH dying within five years3. PNH is characterized by thrombocytopenia, leucopenia, and thrombosis . Paroxysmal Nocturnal Hemoglobinuria should be suspected when the patient has hemoglobinuria with a negative Coombs test, aplastic anemia, and myelodysplastic syndrome . PNH often goes undiagnosed and because of the
term orphan drug refers to a product that treats a rare disease affecting fewer than 200,000 Americans. Orphan drugs help the companies that manufacture them, under the Orphan drug act. Under the act a small company can pick up a product that would be worth anywhere from $5 million to $20 million a year. The orphan drug act has helped in the development of products to treat drug addiction, leprosy, hemophilia, and rare cancers, as well as diseases most people have never heard of, such as cryptosporidiosis
some face horrible treatments. But the most saddening thing is suffering from a disease that is so rare that only handful people know about it. It is such a bad luck that you are one in a million who is suffering from a weird disease. Medical science has undergone a great revolution, it is getting better and more advanced than it was some decades back. In spite of such breakthrough advancement there are several diseases that don’t have a cure yet. A very hefty amount is being spent every day
and integrate different parts of its value chain. For a long time, this direction worked very well for the company. Orphan drugs represented a niche market that had minimal competition, besides the fact that there was an increased prevalence of rare diseases around the globe and most of the affected people were willing to pay huge amount to improve their standard of living. This resulted in positive financial results for Genzyme, which has been ranked one of the most respected companies globally. Although
Earth is small. Many people find it hard to believe, but when one thinks of earth in its context, amongst billions of galaxies, stars, planets, and an infinite universe, earth is a mere grain of sand on the beach that is space. With this in mind, one may, quite understandably, find it hard to believe that earth is the only planet that sustains life. With today’s advanced technology and science, extensive evidence has been found suggesting a great likelihood of life on other planets. The discovery
Transport- The issue of transportation and the environment is somewhat of a paradox. Transportation conveys certain socioeconomic benefits, but transportation is also effecting environmental systems. Positively, transportation supports the increasing need of mobility for passengers and freight, while negatively, transport is tied to motorizations, congestion on transport lines, and the growing lists of environmental externalities. Since the Industrial Age, humans have been rapidly changing their
Gaucher Disease: A Rarity in Three Types Ethnicity can provide individuals with wonderful traditions and celebrations of one's heritage. However, for some Ashkenazi Jews, ethnicity brings them much more than they bargained for: a rare condition causing a wide array of liver, lung, spleen, bone and bone problems. Ethnicity brings them Type I Gaucher Disease. Type II and Type III are the two other forms of this rare genetic condition, and can occur at equal frequencies in all ethnic groups. Gaucher
1) Abstract: Although Anti-sense Therapy has limitations related to targeted drug delivery, it is still considered as one of the promising technology for treating most of the Rare and Inherited disorders, being categorized as precision medicine has advanced very much with recent advances in drug delivery technologies like lipid nanoparticle (LNP) formulations, cell-targeting technologies. Anti-sense drugs are seen as most potential drugs for treating debilitating conditions with more targeted approach
affected by a rare disease are children. Thirty percent of children with rare diseases will not live to see their fifth birthday. Krabbe disease is one of the most life threatening diseases in the world. This disease is a rare and deadly disorder that has to do with the nervous system. The disease usually affects younger children, between the ages six months and two years old. There are many different things that Krabbe disease does to the body. Krabbe disease is a rare, inherited genetic disease. People
Hutchinson–Gilford progeria syndrome, is a disease which causes early aging in children. It is non-hereditary and is an extremely rare genetic condition. Progeria has a reported incident of one in eight million newborns. Since 1886, there has only been an approximate of 130 youths that have been diagnosed with progeria. The patient’s average life expectancy is 13 years of age. However, some that are fortunate surpass this expectancy (Rathore). Progeria is in a group of rare genetic disorders, called laminopothies
Aliens. Extraterrestrial life. Humans have always had an interest in extraterrestrial intelligence. The speculation of extraterrestrial intelligence is popular these days both in mass culture and in science but belief in extraterrestrial intelligence goes back into ancient times. Extraterrestrial life is defined as life that does not originate from Earth. With the fascination of aliens among human, many became theorist. They believe that extraterrestrials with superior knowledge of science and engineering
Generally, as figure 1 shown that the Strengths for this supply chain is good for short run production and hard make mistake. It could avoid the lack of materials and make materials mixed together. However, the Weaknesses for this supply chain is complex which are much labor spending and low work efficiency, especially that new staff needs spending long time to adapt to the job. Certainly, X1 also knows the disadvantages for their supply chain and makes some special change for the disadvantages and
The Fermi Paradox and Implications In 1950, a man, Enrico Fermi, during a lunch break conversation he causally asked his co-workers an interesting question, “where is everybody”. (Howell, 2014) By which he meant, since there are over a million planets which are proficient enough to support life and possibly some sort of intelligent species, so how come no one has visited earth? This became known as The Fermi Paradox, which came from his surname and two Greek words, para meaning contrary and Doxa
“Did you know the Bible talks about a great cube-shaped spaceship coming down to Earth?” Is this talking about UFOs? (Graves 12) To begin, this paper is on UFOs, the appearances of extraterrestrial spacecraft; also, the criteria to be one. Why extraterrestrial rockets are perceived to be undeniably real, legitimate, things. Why Flying saucers are perceived to be not tangible, or legitimate things. Finally, why the media glamorizes UFOs. UFO’s will forever be a controversy because of media glamorization
Alexander Mrs. Schroll 3rd period Monday, May 5th Canavan disease Canavan disease is an inherited disorder that causes progressive damage to the nerve cells in the brain. It is in the group of rare genetic disorders called Leukodystrophies. Leukodystrophies are characterized by the degeneration of myelin, which is the fatty covering that insulates nerve fibers. The myelin is necessary for rapid electrical signals between the neurons. I chose this disease because I had never heard of it and it seems to only