Human genome refers to the information contained in human genes. The information is stored in DNA sequences within cell nuclei and mitochondria (Michal & Schomburg 2013; Veltman & Brunner 2012). Human diploid genomes are found in body cells that are not involved in sexual reproduction while human haploid genomes are contained in sex cells that are essential in human reproduction. It has been found that human beings differ genetically by about 0.1% due to the information coded in the DNA. However, there is a higher level of variation between man and other primates such as chimpanzees. The Human Genome Project (HGP) focused on understanding genomic information stored in the human DNA.
The project produced sets of sequences of genetic information. It was successful due the application of DNA sequencing, a molecular biology technique that helps to visualise the order of nucleotides within a gene sequence (Michal & Schomburg 2013). The human genome is characterised by a perfect molecular architecture that ensures that genetic information is processed and utilised by cells. It is composed of 23 pairs of chromosomes, which are unique in males and males.Twenty two pairs of chromosomes are found in body cells while one pair is found in sex cells. MiRNA and Micro-RNA are essential in processing products of gene transcription. Thus they are critical in gene expression. Ribosomal RNA molecules are contained in ribosomes, and they participate in protein synthesis. Small nuclear RNA processes pre-mRNA and regulates the activities of transcription factors. Small nucleolar RNA guides the molecular pathways that modify chemicals within cells (Michal & Schmoburg 2013).
The coding and noncoding DNA sequences are integral components of the human genome. Coding DNA sequences can be processed to form mRNA that is later turned into human proteins. On the other hand, noncoding DNA sequences are not utilised to form proteins in human cells, but they make up about 98% of the human genome. Recent literature shows that some DNA sequences that do not have instructions for producing proteins have been shown to house genes that are involved in regulating RNA molecules, for example, rRNA and tRNA (Veltman & Brunner 2012).
The protein-coding component of the genome has been widely studied due to its roles in producing proteins for various biological functions within human cells. Interestingly, DNA mechanism can lead to the production of more proteins than the amount of genes that code for protein macromolecules (Michal & Schomburg 2013).
The molecular apparutus for coding proteins is contained within the exome of human beings. The sequences within this component are encoded by exons, which are used to produce proteins. The exome is marked by a network of molecular pathways that control activities of other other cellular components. In fact, the exome was the first feature of the human genome to be characterised by the HGP. Pseudogenes resemble protein-coding genes. They are produced through gene duplication. Initially, pseudogenes retain their protein coding functions, but they lose this function when mutations accumulate in DNA sequences (Michal & Schomburg 2013). Therefore, a gene that has many pseudogenes could be rendered inactive gene, which cannot code for any funcational protein. When a gene is transcribed, it yields messenger RNA molecules that are marked by long sections of introns, and short sections of exons. Introns do not contain the molecular codes for directing the sysnthesis of proteins, unlike the exons. However, during procesing of the transcript, the introns are cleaved off to retain the functionally important exons that are changed to amino acids (Michal & Schomburg 2013).
A single-nucleotide polymorphism (SNP) is a change in the sequences of one of the four nucleotide bases that make a DNA molecule i.e. A,T,C and G (Michal & Schomburg 2013). In other words, an SNP is a variation of one of the purines or pyrimidines. DNA mutations can be utilised to screen for diseases of many aetiologies. In fact, many diseases have been shown to have molecular foundations, which are then manifested to affect physiological features of the body (phenotype). Variations in the DNA sequences can have neutral, positive or negative impacts on an individual (Veltman & Brunner 2012; Michal & Schomburg 2013). Genetic screening has important applications in the health care industry because it helps to identify the genes that have mutated. Understanding the genes with variations could go a long way in promoting the design of pharmacological molecules for therapeutic purposes (Veltman & Brunner 2012).
Disease progression takes a long time before a disease is manifested. However, the application of genetic screening can significantly increase the chances of diagnosing diseases at early stages.For example,cancer arises due to variations in specific genes.An early diagnosis of cancer,among other health conditions,improves the chances of treating the conditions
Inheritance of mutated genes from parents by a foetus predisposes it to genetic disorders that could lead to health complications. Advancements in the field of genetic screening have resulted in early detection approaches that allow prospective parents to identify whether or not foetuses in the womb could be carrying harmful genetic disorders that could manifest at childhood or adulthood (Michal & Schomburg 2013).
SNPs can also be used in genetic screening to support personalised medications for people across the world.This would be based on the premises that different individuals have varied patterns of ingesting and metabolising medications as a result of the uniqueness in their genomes.Thus, it would be important to design and treat human beings with drugs that would target their genetic pathways to cure disease conditions.Therefore,screening for genetic variations has important applications in disease prevention and treatment.
Support on behalf of 23 and Me
23andMe has been at the forefront of promoting the adoption of genetic technologies in detecting disease conditions.The company developed and sold a personal genome service (PGS) that could be utilised to assess the chances of developing illnesses like cancer and diabetes mellitus,among others (Allyse 2013). Customers of the product put saliva on a PGS device that analyses SNPs to determine the probability of an individual to develop a disease (Allyse 2013). In order to clear the application, it would require a series of scientific-based studies that would aim to assess the clinical advantages and disadvantages of the service. The studies would take a long period of time. However, the application should be used to help people know their genetic predispostion to various diseases while the studies are conducted. The service has the potential to reduce mortality rates associated with diabetes and heart problems,among others. Also,if the genetic service is continued,it would significantly reduce morbidity caused by various diseases that could be detected through SNP analysis utilised by the personal genome package. The service should also be allowed to continue and be applied in genetic counseling.For example, a couple preparing to marry would need to use the PGS to assess their SNPs so that both the male and female partners can know the disease risk they would give their children. In conclusion,the PGS has advantages that outweigh the limitations.Thus,it should be continued to be used.
Support on behalf of the FDA
23andMe has violated the regulations of the FDA by marketing the PGS package that intended to be used for the diagnosis of diseases,among other applications in the health care sector (Taylor 2012; Dickenson 2014).It is unethical for the company to sell the PGS without undergoing clearance. Some applications of the service are quite alarming. The company purports that the PGS could assess the risks associated with BRACA gene mutations in the development of breast cancer. It has been shown that false positive or false negative results of such a health condition could impact an individual negatively (Dickenson 2014). For example,if PGS shows that an individual has risks for breast cancer (false positive results),then he or she could undergo unnecessary prophylactic surgery or other morbidity-inducing actions.
On the other hand, false negative genetic assessment results could make a person not take steps towards mitigating effects of actual genetic risks (Wilcken 2011;Taylor 2012). Currently,the PGS does not have clinical and analytical validation,yet it is being used to produce results that could be used to harm the body irreversibly (Wilcken 2011;Taylor 2012).
In conclusion, the service should be discontinued indefinitely until a time when an adequate amount of research findings will support the benefits and safety of the application.In conclusion,biomedical researchers should be involved in studies to assess the benefits of the PGS.
References
Allyse, M 2013, ‘23 and Me, We, and You: direct-to-consumer genetics, intellectual property, and informed consent’, Trends in biotechnology, vol. 31, no. 2, pp. 68-69.
Dickenson, D 2014, Testing times for the consumer genetics revolution, Web.
Michal, G, & Schomburg, D 2013, Biochemical pathways: an atlas of biochemistry and molecular biology, John Wiley & Sons, Hoboken, NJ.
Taylor, A, 2012, ‘Commentary: 23andme… and you?’, Biochemistry and Molecular Biology Education, vol. 40, no. 1, pp. 63-64.
Veltman, JA, & Brunner, HG 2012, ‘De novo mutations in human genetic disease’, Nature Reviews Genetics, vol. 13, no. 8, pp. 565-575.
Wilcken, B 2011, ‘Ethical issues in genetics’, Journal of paediatrics and child health, vol. 47, no. 9, pp. 668-671.
Leukemia: The Definition And Treatment
Abstract
Leukemia is an abnormality in the growth of white blood cells. Normally, cancer develops into different kinds of blood cells resulting in the classification of the disease. Types of leukemia range from acute lymphocytic leukemia to chronic myelocytic leukemia. Several methods have been applied in the diagnosis of leukemia. The most common symptoms include pale appearances, fevers, bleeding, persistent infections, enlarged lymph nodes, distended liver or spleen and fatigue. Possible risk factors that may expose someone to this disease include exposure to radiation, family history of leukemia or genetic disorders. The main treatment is usually chemotherapy.
Introduction
Leukemia can be described as a malignant progressive disease in which blood forms excess immature or abnormal white cells (Elhefni, 2013). The abnormal formation of the blood cells results in acute or chronic leukemia. However, the purpose of the white cells is to provide a defense system for the body. Besides, the main duty of white blood cells is to provide the body with immunity against any invasion from viruses and bacteria. White blood cells are normally manufactured within the malleable central part of the bone marrow. Under the circumstances that the white blood cells functions insufficiently, the body is exposed to several risks and may easily get infections. In acute cases, particularly when the white blood cells are numerous, the white blood cells become involved in the destruction of other body cells. Under such circumstances, white blood cells affect the normal functioning of the body such as the circulation of oxygen and the bleeding control, which are the duties of the red blood cells and platelets (Elhefni, 2013).
Types of Leukemia
The cancerous white blood cells are normally categorized into two main groups depending on the severity of the abnormality. Acute leukemia is characterized by its rapid development and spread within the circulatory system. On the other hand, chronic leukemia is characterized by slow progressions, which provide increased chances for the white blood cells to become mature thereby reducing their severity. In other words, acute leukemia does not provide chances for the body to recover compared with chronic leukemia (Chiorazzi, Rai & Ferrarini, 2005).
Further, leukemia can be classified depending on the affected part of the born marrow. In the circumstances that the abnormality develops on the part of the born marrow that manufacture white blood cells lymphocytic leukemia occurs. On other hand, when the cancerous cells develop in the part of the born marrow where red blood cells and platelets develop Myelogenous leukemia results (Bain, 2010).
From the divisions, it is apparent that there are four kinds of leukemia. Among the four types, acute lymphocytic leukemia is widespread within the human population. The abnormality is caused by the uncontrolled production of increased immature lymphocytes. The increased number of abnormal lymphocytes also causes atypical production of other blood cells such as platelets and red blood (Bain, 2010). However, chronic lymphocytic leukemia is most common in people older than 55 years (Burger & Peled, 2009). Besides, the abnormality is popular among men compared with women. Further, the condition develops at a slower rate and gradually the cancerous leukemic cells outgrow the healthy cells in several tissues.
Acute myelogenous leukemia usually occurs due to the uncontrolled production of a type of white cells called myelocytes. The process affects the functioning red blood cells, platelets and the normal white cells (Chiorazzi et al., 2005). The type of leukemia is common in adults. Finally, chronic myelogenous leukemia develops slower than the acute type and has minimal interference in the development of other cells. The chance of developing this type of leukemia increases with age (Burger & Peled, 2009).
Causes of Leukemia
The precise origin of the condition remains vague to scientists. However, scientists have identified risk factors associated with the development and growth of the condition. According to various studies that have been conducted on the disease, genetic factors have been identified as the leading cause of the disease. Children born with Down syndrome or any other rare gene changes are more prone to acute leukemia. Other factors include previous treatments or exposure to radioactive agents or chemicals. Any history of leukemia in the family can also be a factor (Burger & Peled, 2009).
Symptoms of Leukemia
The most common sign of the disease is excess bleeding. Excess bleeding occurs due to malfunctioning of the platelets whose primary duty is to stop bleeding. Slight venous cuts can become severe in the circumstances that an individual develops the condition. In fact, other symptoms of the disease include tiny red spots under the skin (Ladetto, 2010). However, the disease can spread into the immune system of the individual. The infection of the immune system is brought about by the suppression of white blood cells causing their malfunction. The white cells have the responsibility of defending the body against any infections from microbes and viruses (Ladetto, 2010).
Austen, Skowronska, Baker, Powell, Gardiner, Oscier, Majid, Dyer, Siebert, Taylor, Moss and Stankovic (2007) observed that the disease accumulates in lymph nodes and other important organs such as the spleen resulting in enlargements of these organs. Patients normally feel pain particularly on the right abdomen where the spleen is situated. The other effects of the enlargement are the decreased ingestion of highly solid foods. Other symptoms of the chronic phase of the disease include fever, chills, flu, tiredness and night sweats (Austen et al., 2007).
In the circumstances that the abnormal white blood cells have accumulated in the nervous system, the result is nausea and vomiting. Besides, skin cancer may develop in situations when abnormal cells accumulate in the skin. A reduction in the number of red cells also causes the skin to look pale and results in the feeling of fatigue while the individual may experience short breaths (Austen et al., 2007).
In most cases, each type of leukemia has different symptoms. Acute lymphoblastic leukemia for instance is usually characterized by loss of appetite, joint pains, short breaths, lumps in the neck, under the arm or groin, easy bleeding when bruised, tiredness and fevers. In addition, the patient may similarly have skin lesions known as leukemia cutis. The skin lesions are caused by the accumulation of several leukemic cells into the patient’s skin. The symptoms may appear before an individual is diagnosed with blood cancer (Ladetto, 2010).
Diagnosis for Leukemia
The diagnosis of the disease normally involves examining the type of blood cells and their formation in the born marrow. In the circumstances that the abnormal white cells are identified, the individual is likely to develop the disease. However, the acuteness of the disease depends on the number of abnormal white cells in the blood. Normally, medics perform advanced tests for the identification of abnormal cells. Such tests include cytogenetic analysis and flow cytometry. Moreover, the specific determination of leukemia helps the doctors to come up with the specific appropriate treatment (Burger & Peled, 2009).
Treatment of Leukemia
Various kinds of leukemia have different treatments methods. However, therapies are often prescribed according to the age and wellbeing account of the patient. Patients diagnosed with acute leukemia are required to start early medication. Such patients are provided with chemotherapy. Besides, the patients are often transfused with platelets to help in preventing as well as help in stopping bleeding since their levels of healthy blood cells are low. Antibiotics are also administered to help in the prevention and treatment of infections. However, remission occurs in some cases when acute leukemia patients are given primary treatment for acute leukemia. Under such situations, medics give consolidation chemotherapy to kill any remaining malignant cells for a period of one to four months (Austen et al., 2007).
Intermittent treatment is usually given for a period totaling two years for acute lymphocytic leukemia patients. An allogeneic stem cell transplant is also given to acute myeloid leukemia patients. The transplant is usually done after the patient has been provided with complete remission. The process of stem cell transplant takes three stages ranging from induction to transplanting. Chemotherapy is applied to further reduce the number of abnormal white blood cells. In most cases, a single dose of chemotherapy is followed by increased doses of chemotherapy (Austen et al., 2007).
Conclusion
Leukemia is a disease that has affected the lives of many people across the globe. Researches show various types of leukemia with different treatment methods. However, all leukemia types are treated mainly through chemotherapy. Surgery is not applied for leukemia since the condition does not have solid tumors. Powerful drugs aimed to divide the cells are often used in chemotherapy. The drugs interfere with the normal functioning of critical parts of the cell. In the process, a good number of normal cells are damaged. However, increased numbers of cancerous cells are damaged since the cells usually multiply at higher rates. Chemotherapy can be done orally, through the veins and injections into the cerebrospinal fluid.
References
Austen, B., Skowronska, A., Baker, C., Powell, J. E., Gardiner, A., Oscier, D., Majid, A., Dyer, M., Siebert, R., Taylor, A. M., Moss, P. A., & Stankovic, T. (2007). The mutation status of the residual ATM allele is an important determinant of the cellular response to chemotherapy and survival in patients with chronic lymphocytic leukemia containing an 11q deletion. Journal of Clinical Oncology, 25(4), 5448–5457.
Bain, B. J. (2010). Leukemia diagnosis. Oxford: Wiley-Blackwell.
Burger, J. A. & Peled, A. (2009). CXCR4 antagonists: targeting the microenvironment in leukemia and other cancers. Leukemia, 23(6), 43–52.
Chiorazzi, N., Rai, K. R., & Ferrarini, M. (2005). Chronic lymphocytic leukemia. New England Journal of Medicine, 352(16), 804–815.
Elhefni, A. M. (2013). Tailoring of chronic lymphatic leukemia therapy. American Journal of Blood Research, 3(3), 201-209.
Ladetto, M. (2010). Telomere disrupts CLL progresses. Blood, 116(6), 1821–1822.
Rapid Freight Company’s Architectural Network Diagram
The adoption of Metropolitan Area Network (MAN) will help Rapid freight in enhancing its service delivery, which will promote customers satisfaction. The use of converged networks, as well as converged communications helps in integrating data, voice and video solutions into a single IP based infrastructure. The integration helps employees whether in office or on move in accessing enabled communication applications that facilitate access to business process over any network. The greater flexibility that accompanies such integration is very beneficial as it increases customer satisfaction. However, the integration evokes issues of security.
Therefore, the implementation of MAN endangers the security of data transmitted over its network. MAN is a network that joins separate networks Local Area Networks (LAN) using high-speed resources such as optic fiber. The MAN then offers up-links to a Wide Area Network (WAN) and the internet. The connectivity to the internet will aggravate the security issues of the Rapid freight network. One of the main security risks that accompany MAN is the shared medium, where all information transmitted over the network is accessible in all the nodes. For instance, in a MAN, a traffic analyzer can read all the information transmitted over the network.
In many instances, MAN belongs to single owners and therefore, security issues do not receive priority in comparison to the performance and economic aspect of the network. In adopting the MAN, Rapid freight will encourage its customers to pay for their services online through its electronic payment system. This will pose a great insecurity issue as hackers may locate weakness in its network and use it to access the codes of the customers’ credit cards and hackers can use their cards to make unwarranted purchases.
Similarly, because of the increased competition in the fright industry, some competing firms may use unethical tactics to get a competitive edge over Rapid Freight Corporation. Because the MAN is usually joins the WAN over the internet, some firms they may hire hackers to access the Rapid freight MAN and destroy sensitive files, which may greatly compromise the quality of services offered by Rapid freight causing customers dissatisfaction (White, 2010).
Therefore, Rapid freight will require securing its MAN appropriately in order to overcome the security challenges that accompany MAN. Rapid freight Corporations should implement Group Encrypted Transport VPN security system, which provides a standard-based IPSec security model. The Figure 1 below illustrates an architectural diagram of a Group Encrypted Transport VPN security system.
The model operates on the concept of trusted group members where trusted members use common security methodology that is independent of any point-to-point IPSec tunnel association. The system has a key server, which assigns every trusted group member keys and policies. The model offers various security benefits that entail: offering data security and transport authentication. This provision is essential as it enables in realizing security compliance and internal control through encrypting all WAN traffic. In addition, it offers an easy membership control via a centralized key server (Cisco, 2012).
Therefore, by adopting the Group Encrypted Transport VPN security system, Rapid freight Corporations will greatly boost its network security, thereby gaining a competitive advantage over its competing brands through avoiding unauthorized access of its network.
Reference List
Cisco. (2012). Cisco Group Encrypted Transport VPN. Web.
White, C. (2010). Data Communications and Computer Networks: A Business User’s Approach. Belmont: Cengage Learning.