Essays on Genomics

Introduction

Exom sequencing is also known as whole exom sequencing (WES). This sequencing technique is used to sequence all the expressed genes in a genome also called as exom. It is one of the most widely used targeted sequencing methods. The exom which is the protein coding region of the human genome consists of less than 2% of the genetic code. This region is responsible for containing more than 85% of known disease-related variants. Thus, whole exom sequencing is a cost-effective alternative to whole genome sequencing (WGS). This technique is efficient in identifying coding variants across a wide range of ...

Abstract

The ecological settings in an ecosystem change from time to time. The changes in the ecological settings are brought about by a plethora of factors. Through evolution, the organisms that live in the ecosystem also change to adapt to the aforementioned ecological changes. The adaptation of the organisms to the ecological changes yields variations because different organisms and even organisms of the same species are exposed to the elements to different levels. Man has a significant role to play in the ecological changes. Through his economic activities, the effect on ecosystems has been both positive and negative. Urbanization as ...

Introduction

Genetic counselling is defined as the information, guidance, and support provided by a genetic counsellor or medical geneticist to an individual, a couple, or a family about a genetic condition. The information may help the client (affected individual or family) understand how a gene variant underlies an observed phenotype, disease prognosis, and the probability of transmission to progeny. Apart from information to help the client make informed decisions about lifestyle, treatment, and reproduction, a counsellor provides psychosocial support to minimize the adverse psychological, intrafamilial, and social consequences of genetic testing. Therefore, genetic counselling has an educational as well as ...

Medical genomic can be defined as the utilization of genome-based information in the making of clinical decisions. A broader concept, personalized medicine, is often used to describe the models of healthcare that emphasize the application of an individual’s unique environmental, genomic, genetic, and clinical information to the treatment and prevention of diseases (Brunicardi; Offit). In their practice, doctors combine the results of patient data, which include individual genomic information, family history, medical history, conventional test results, and symptoms. The combination of the data allows the physicians to diagnose diseases accurately and personalize treatment strategies (Alzu’bi et al.). ...

Human Genome Evolution and Disease

Genome evolution is one of the key aspects that have helped determine the overall position of human beings from a scientific perspective, as it focuses more on providing scientists with an understanding of the changes occurring within the human body (Tomkins, 2016, p.261). The study of genome evolution has focused more on evaluating the changes in structure, otherwise referred to as a sequence, and size of the human gene within a given period. The study provides scientists with a better understanding of the changes occurring within the human body as well as some of the changes that human beings ...

Introduction

Atherosclerotic cardiovascular disease (CVD) involves peripheral circulation, the brain, and the heart. The disease is a primary health issue in many countries around the world (Sawhney, et al., 2012). CVD develops through complex processes involving novel risk markers and common risk factors. Decades of research have demonstrated that a sibling’s or parent’s family history is linked to the development of atherosclerotic CVD (Gupta et al., 2013; Nelson, 2013; Imes and Lewis, 2014), which manifests as peripheral arterial disorder, stroke, and coronary heart disorder (CHD). Various Mendelian disorders have also been shown to contribute to atherosclerotic CVD. Although ...

Abstract

In the last century, the knowledge of molecular biology has increased, opening new opportunities for addressing different diseases that have been affecting all populations. Before, genome and proteomic studies were seen as complicated field due to inability to get significance understanding of disease components at the molecular level. However, with the expansion of molecular biology, different techniques and tools have been developed to aid diagnosis and treatment of diseases. In this study, these tools have been investigated to understand how the knowledge on molecular diagnosis helps in detection and treatment of diseases. This study focused on the application of ...

Transcriptional regulation of gene expression

Gene expression in eukaryotic cells is regulated at transcriptional, post transcriptional and translational levels (Tomizawa,  Lekstrom-Himes, and Xanthopoulos 17). Transcriptional control is the primary means of regulating gene expression. Eukaryotic transcriptional control functions at three levels: modulation of the activities of activators and repressors; variations in chromatin structure; and effect of activators and repressors on assembly of initiation complexes (Lodish et al. 368). Regulation of transcription initiation is the most widespread form of gene control in eukaryotes. However, in some cases, transcription may be attenuated and regulated at subsequent steps, such as during or after the transcription process (Cooper ...

Almost every nurse will come across clinical situations that pose ethical dilemma in their practice. In this paper, we look into the ethical dilemma associated with genomic and genetic issues in acute pediatric care settings. Genetic testing and gene based therapies are an integral part of pediatrics. Genetic diseases are commonly identified in the early days of life. Approximately, 53 out of 1000 children, are diagnosed with a disease that is linked to a genetic etiology. As front desk executives, nurses are more likely to participate in activities that involve genomic testing and gene based therapies. The advent of ...

Over the last decade, the healthcare arena that includes research, education, and patient care has become overloaded with technological advances. Technology influences how nurses are educated, the way how they practice, provide and document patient care. Clinical Information Systems has already replaced paper and pencil input of information that helped to reduce errors and provide flexibility in delivering specific patient care. Vital signs including temperature and blood pressure are taken, recorded and tracked electronically, and nurses are alerted to any worrying and abnormal results. Moreover, POC bar coding, electronic medical records (EMR), personal data assistants (PDAs), and the health ...

Modern technology is one of the fastest growing economic rates in the country and workers at health sector need to be trained for them to be well equipped with the knowledge and skills for its operation. The changes, for example, were formed to reduce the number of hand-written reports that gave false information about the illness of some patients and ensured that the staffs update all medical information data in an accurate way for easy reference by any patient caregiver or the doctors. The administration at health facilities is required to ensure that the technology used to offer services ...

WGU

A. Table of Contents Professional Resume – presents my clinical knowledge, skills, experience, and philosophy to potential employers Executive Summary – provides an overview of the contents of the portfolio Professional Reference Questionnaire – presents the objective and subjective evaluation of my key behaviors and clinical performance by one of my professional references Importance of the Institute for Healthcare Improvement (IHI) – discusses the need to develop knowledge and skills in quality leadership in order to improve the quality and safety of patient care and promote holistic, patient-centered care

Copy of IHI certificate of completion – serves to validate my completion of the IHI Organizational Systems and Quality Leadership course

Evidence-based Practice – summarizes an evidence-based research project on hand hygiene Applied Leadership – summarizes my ...

Question 1

Compare and contrast the concept of metagenome and microbiome. The microbiome is a term used in describing the entire habitat; it includes microorganisms and their genomes and the surrounding environmental conditions. The microbiome is defined based on the biotic and abiotic factors in a specified environment. On the other hand, metagnome can be defined as a collection of genes and genomes normally from the members of the microbiota. Microbiota is an ecological community that includes symbiotic and pathogenic microorganisms that share our body space. The analysis of microbiome can be done for a large number of samples and can ...

English 1B

The field of medicine will continue to move forward (Worboys 117), and this has been indicated by the products produced by laboratory sciences, as well as the development of significant medical products like penicillin, which was made possible through the discovery of ‘macromolecularization’ (Lowy 117). Like the industrialization since the post-World War II era, the field of medicine will continue to move forward (Worboys 117), as was indicated by history, specifically the industrialization period, which shows “development of hospital and laboratory medicine, public health, and the rise of the asylum took place” (Worboys 109). However, when discussing the genomics ...

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Introduction

Genome imprinting is the latest technique that has genetically modified the face of infertility; it is an epigenetic phenomenon through which the parental origin of a gene is determined based on its expression. 1 There are a vast number of genes in mammals that are marked with their parental origin, and the result of this phenomenon is a single parental allele. These marked genes are known as “imprinted.” They rely on the epigenetic machinery determining their parental identity and maintaining their origin-specific gene expression. There are 100 imprinted genes estimated in human and 200 ...

Precision medicine in Neurodevelopmental diseases

The present lecture focuses on the genomics, its significance in treating current genetic diseases and future scope. Started with the basic introduction of human genome the lecturer presented the most advanced approach of genomics in combating the multiple incurable human diseases via developing tailored mouse models. Human genome includes 3 billion nucleotide bases that are inherited from the parents. Human genome sequencing was one of the greatest achievements of the medical science that have grown rapidly. The total cost for the first sequencing project had been 3 billion USD that lasted for around ten years but now one can ...

Genetics has progressed over the recent years. Very sophisticated methods of studying genes and researching how species have evolved from one cell into complex animals. The purpose of the research by Lee, Lai, Malik, Saldarriaga, Kelling, and Slamovits at the Canadian Institute for Advanced Research and the Department of Biochemistry and Molecular Biology, Dalhousie University was to observe and gather more information about The Oxyrrhis marina (O. marina). The species is very good for studying about the development of two taxonomic groups of “protists, dinoflagellates and apicomplexans” (1). The molecular structure is simple, so it is at the ...

Introduction

Genetics is an evolving field in modern day science that has been drawing attention and funding in abundance. Various healthcare professionals have varying degrees of knowledge on modern day genetics and its applications. Nurses are also required to possess knowledge on genetics, as well as a good practice on ethics pertaining to genetics. However it is still not an area where everybody is comfortable to handle (American Nurses Association, 2001). Since the completion of genome project in 2003, there is a great interest towards the applications of genetic engineering technology in healthcare. Genetic screening for diseases such as diabetes mellitus, various ...

Introduction

Most of the world’s chronic diseases are preventable by long term dietary behavior. Out of the ten major causes of deaths for Americans, diet is a contributing factor to at least five of them. These diseases are such as cardiovascular diseases, cancer and diabetes. A report by the Joint World Health Organization on diet made in 2003 revealed that, most of the world’s chronic diseases can be prevented by regular physical exercise and maintenance of a healthy weight. This finding is valid up to date. According to this report, a person’s genome determined their susceptibility to disease while external ...

These two readings emphasize on how it is interesting to know that cell evolution research is advancing in new and exciting ways at the intersection of genomics, cell biology, molecular biology, biochemistry, and microbiology. The aim of the papers is to reexamine one of the more revolutionary conjectures made to account for the origin of the complicated kind of cell that is the structural unit of the higher animals and plants. The first reading is entitled “Origin of eukaryotic cells: 40 years on”, the paper is authored by John M. Archibald. The book is aimed at discussing the ...

Screening is a vital medical exercise. It helps in identifying victims at higher risks at early stages of the disease making it possible to develop medical intervention measures that can reduce the risk of illness and death. Notwithstanding the fact that screening helps in identifying the level of risks, there are certain implications that make it undesirable. There are medical conditions in which screening is an inevitable exercise. For instance, blood pressure is a non-controversial screening program. Nevertheless, genetic screening for prostate or breast cancer, mandatory HIV screening, or obesity screening are some of the most controversial screening programs. This paper ...

Introduction

The effective use of genetic information in nursing began at a slow pace, but it has gradually gained pace. Research shows that it has increasingly enabled the provision of quality healthcare for patients, therefore giving them a reason to smile. However, there is also increasing criticism in regards to the use of gene therapy in the health sector. Medical practitioners have been accused of incompetence’s in dealing with gene technology at their place of work. This includes several other issues of genomic nursing that the public have complained about even with the improvement it has brought to healthcare sector. This ...

Reflection of Critical social, Feminist and Postmodern Theory and Examples

Reflection of Critical social, Feminist and Postmodern Theory and Examples A

Article 1: Feminist Theory:

Feminism, according to Chinn & Wheler (1985), can be defined as a view that puts weight on the value of women and tackles the inequality injustices based on gender. The feminist theory is, therefore, based on the fact that there exists gender biasness in the diagnosis, treatment and care of women with heart diseases. Historically, the article also observes that women were excluded from researches because they were considered unpredictable research subjects due to their changing physiology (McCormick & Bunting, 2002). According to this article, the discrepancies between how women ...

Introduction:

In recent times, there has been a rapid growth in the amount of data generated and collected on the human genome project and sequencing projects in other organisms. The rapid growth of biological data has consequently led to increased demand for data analysis and interpretation methods and tools. The evolving science of bioinformatics provides the necessary processes and tools to conduct this data analysis (Bayat, 2002). There are a number of specifically dedicated bioinformatics problem-solving tools and successful applications. However, despite the many existing applications, bioinformatics is still considered as a science in its infancy, and the process of massive integrating it ...

Analytical methods to evaluate seed dormancy in legumes

Abstract Legumes are known to have multiple health benefits. The seed coat in particular contains a number of bioactive compounds which possess antioxidant activity. Of great interest is the relationship between the chemical composition of the seed coat and its role in seed dormancy. Modern technological approaches are currently used to further identify these compounds and determine their role in seed development; these include NRIS FTIR, mass spectroscopy, electron microscopy and chromatography. The following review describes the constituents of the legume seed coat and their respective roles in dormancy and other stages of seed development. The review also highlights ...

Annotated Bibliography on Mental Disorders

Gejam, P. V., Sanders, A. & Kendler K. S. (2011). Genetics of Schizophrenia: New Findings and Challenges. Annual Review of Genomics and Human Genetics. Vol. 12: 121-144 These researchers seek to illustrate that molecular genetics has an impact on schizophrenia. The data collected for this study support the idea that there are rare but common genetic variations in schizophrenia spectrum and other disorders. What happens is that there is normally a polygenic inheritance and genetic overlap that causes schizophrenia and other overlapping psychiatric disorders. If only more informative genotyping and re- sequencing programs are used then, these conditions may never ...

The advancement in molecular genetics and genomics and their application in the field of medicine will raise crucial socio-scientific issues. Science teaching has the objective of educating scientifically literate citizens while genetic and genomic technologies addresses the science courses. The prime goal of the educational policies in all industrialized societies is to provide science literacy in education. The Western world applies a similar set of scientific standards. The key role attributes to genes as determinants of health, behavior, and human identity. Molecular Genetics and Genomics (325) say that genetics is a scientific field with the concern of science literacy. The media ...

i. Executive Summary; Proteomic analysis is the large scale experimental analysis of proteins and their structure that is being used by many industries. The Chinese Hamster Ovary (CHO) cells are considered the primary source for recombinant therapeutics and antibodies. The Proteomic analysis is of prime importance in the CHO cells engineering. With other varied applications, especially in CHO cell engineering, where they are used to modify cells for desired functions. Proteomics has improved product standards and efficiency in many industries. (Baycin-Hezal, et al, 2012) ii. Background Definition of Proteomics; Proteomics is the study of proteins. Proteomic analysis is ...

Introduction

Proteomics is the study of proteins in terms of their structures and functions. The term proteome refers to the entire set of proteins modified of produced by the organism. However, the interactions and modifications tend to vary with time and their distinct requirements and environmental stresses that the organism undergoes. This is an interdisciplinary domain based on research studies originally on yeast, then mice. Experiments have been forwarded describing the ways of investigating genetic interactions and various aspects of different functional proteins in genes. This essay proposes experiments that would be used to investigate a particular gene (named Without Kicking ...

Introduction

Healthcare nowadays relies on the ongoing work seeking to unravel the genetical basis of various diseases and responses to treatments. The advancements in genomics and genetics cut across the entire healthcare spectrum and involves all healthcare professionals including nursing professionals. The majority of diseases, health conditions and illnesses, as well as the associated therapies, have a genetic or genomic underpinning that is influenced by either lifestyle and environmental or other factors, and as such, impacting the entire nursing profession (Calzone, Cashion & Wung, 2010). In line with this, nurses are expected to develop an intimate relationship with patients’ community and ...

The family history or pedigree method is a method used by some experts in order to shed some light into possible clues and explanation regarding the present outcome of an individual. According to the Genetic Alliance (2009) family history holds an important link about the person’s past and future life and family history can be used as a diagnostic tool in the health profession. Medical professionals have noted that both common and rare diseases can run in the family (Bennet, 1991). The method can be performed in several methods using charts, forms, checklists, forms and pedigrees. The concept of a pedigree ...

The DNA Dilemma: A Test That Could Change Your Life by Bonnie Rochman, TIME, December 24 2012

The article discusses whether it's both professional and ethical for genomics and genetics to release the DNA and fine chromosomal test results to their patients in full without considering the consequences. DNA results can truly change its life; it could mean breaking of a marriage, realization that death is killing slowly from within, acquiring funding to fight the illness, higher funding into research for a disease cure. Some patient's results withheld while others are given in part to protect the patient interests. The practice has proven to be a dilemma for the society because both ways there are harder consequences. For ...

Introduction:

The morality of genetic research can play out in many ways. Two broad fields of concern are that of genetically engineered organisms and the ethics involved in the use of human stem cells taken from zygotes and human embryos. Another issue is the patenting of the genome and how that affects medicines and the rights of people to “own” their own cells. Of special concern is that bio-engineering might escape and have long term adverse effects as the manipulated creations cross genetic structures with other biological elements in the environment. This paper will look at the general ethical concerns ...

Operational strategy of Google with Google Glass is exceptionally brilliant as well as unique. As estimated by experts, although Glass will take a while to shape up to emerge as the next generation ‘iPad’, the company is aware that connected eye gear and eye wear hold tremendous potential for ushering in a new age of wearable computing to be able to control household devices. In other words, Google Glass takes home automation to the next level. Google Glass was being chiefly employed for outdoor applications. But now with intelligent integration, many devices in a home can be automated and used on voice ...

- Abstract Cardiovascular diseases such as heart failure are some of the leading causes of mortality and morbidity with Australia being one of the country’s most greatly affected (McLean, Esclick & Coats, 2006). An area of interest in the pathology of heart failure is the significance that polymorphisms of adrenergic receptor genes have on the outcomes of patients with heart failure. Single-nucleotide polymorphisms or SNPs that occur in the genes that encode for adrenergic receptors are known to have various physiological and functional consequences. Specifically, the β1-adrenergic receptors have a crucial role in the regulation of heart rate and ...

Introduction

Genetics is basically a term referring to the study of genes and their individual role in inheritance. In simpler terms, it is the manner in which certain conditions and traits are passed down from a single generation to the other. Genetics therefore is an aspect involving the study of genes and their effects. As a unit of heredity, genes are responsible for carrying instructions for making proteins that articulate the functions of the body and activities of cells as well. To give an example of that, inherited or genetic disorders include fibrosis. Genomics on the other hand is seemingly a recent term ...

1. Explain how nurses can be familiar with the nature and sources of genetic information so that they can assure privacy and confidentiality for their patients? The detection of genetic disparities that play a role in disease offers information that is improving the understanding of disease biology, hence providing new and specialized therapies. Therefore, it is important for practicing nurses to be aware about genetic and genomic information. Through health promotion, provision of care and understanding patient, nursing brings a significant aspect of genomics. The practice of nursing is gradually inculcating genomic and genetics as part of its fundamental obligation ...

Genetic testing also known as DNA based test, involves direct examination of DNA molecules to test for genetic disorders and diseases (Gene testing, 2010). According to the Human Genome Project Information (2010), Genetic testing can be used for various reasons to include: - Identifying people who carry one copy of genes causing diseases such as Huntington’s disease. - Pre-symptomatic testing of adult onset diseases/disorders such as Huntington’s disease - Forensic testing and determining paternity. - Newborn screening and pre- natal testing. DNA stands for Deoxyribonucleic acid, and these are chemical Data bases ...

Application of DNA technology to solve crime:

Literature review: DNA or deoxyribonucleic acid is found in the nuclei of the living cells of all living organisms. DNA is the hereditary material and its structure is unique to a specific organism. It is considered as the building block of the body. It has extensive application in forensic science mainly due to its specificity and accuracy. It is particularly important in solving crimes, ranging from petty crimes, property crimes to violent crimes. What the research wants to find out is whether it is an efficient way of solving crime and what challenges it faces. This research paper ...

Gene Knockdown in Plants

Gene knockout refers to the genetic of making inoperative one of a given organism’s genes (Richmond, 2001). In order to know more about genes that have been sequenced, knocking out is normally done. Close comparison carried out between a normal and a gene knocked down organism would definitely make out a difference (Ralf, 2008). Through such comparisons, the difference would enable the observer to know which genes are knocked out. Knocking down is achievable through combination of vast techniques. Firstly, a plasmid is placed in test tube together with other DNA construct followed by a cell culture proceeding. DNA construct process genetically transfects the ...

Malaria is a tropical disease that has claimed many lives over the numerous centuries gone by (reference). It usually caused by the genus Plasmodium. The vector for this parasite is a female Anopheles mosquito which transmits the pathogen through bite (reference). One of the major challenges in disease vectors is insecticide resistance. Vector-borne diseases are usually a burden in developing countries because it is not easy to reduce/control disease. In many parts of Africa, Anopheles gambiae has developed resistance towards pyrethroid insecticides which is used to control the malaria vector (Kumar, Dudley, 2007). It is feared that there are high chances of ...

"Are Protein-Protein interactions likely to be valid therapeutic targets for cancer therapy?" In her paper entitled “Protein-Protein interactions and cancer: small molecules going in for the kill” Michelle Arkin raises questions regarding the grooved and linear regions that permit protein-protein bonds, the binding peptides also found in those regions, if those interfaces are tractable for small molecule discovery and what compounds might serve as bonding agents. Further investigation of compounds would include if they are active, inhibiting, and do they help further characterize the target. She documents tubulin and several others that have potential. Her conclusion confirms that ...

Pharmacogenomics alternatively referred to as pharmacogenetics in medical literature is a component of personalized medicine. It refers to the study of genetic polymorphisms that in one way or another influence individual response to drugs. Clinical observations on the effects of genetic polymorphism on the pharmacokinetics and pharmacodynamics of drugs were first documented back in the 1950s. Scientific knowledge on genetic variations is therefore the critical foundation on which pharamacogenomics is based. In specific, the knowledge of how variations in the genes responsible for encoding enzymes and proteins are the main pillars of pharamacogenetics (Belle, 2008). Enzymes play a vital role in ...

Introduction

Breast cancer is a type of disease where certain breast cells develop abnormally mostly in the milk ducts and lobules leading to formation of tumors. The exact cause of breast cancer is a topic that has flavored many debates and researches but still remains unknown. However a plethora of research has established that certain risk factors have a direct linkage with breast cancer. Breast cancer related risk factors are wide and varied and may include lifestyle choices like smoking/ diet or factors that are beyond the control of a person like gender, age or family history. It is however worth noting from the start ...

1.0 Introduction Serological blood grouping has been used successfully for decades to ensure safety in blood transfusion. However blood incompatibility continues to be a significant challenge in transfusion medicine reflecting the inherent limitations of the hemagglutination based serological blood typing. Some of the limitations of serological blood grouping include weak reactivity of some antibodies that are clinically significant; weak expression of some red cell antigens; the subjective nature of the available tests and lack of universal methods of detecting and identifying antibodies. In addition there are several issues related to the reagents used which include the wide variability of ...