Essays on Mutations

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 ...

Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR) are prearranged sections in bacterial as well as archaeal genomes, which form part of an adaptive immune system against phages —viruses that infect bacteria but not humans. CRISPR and CRISPR-associated (Cas) systems have been rapidly emerging as an alternative genomic editing tool to ZFNs (zinc-fingernuclease) and TALENs (Transcription activator-like effector nucleases). In the article, “Targeted mutagenesis in rice using CRISPR-Cas system,” the author applies CRISPR/Cas system in rice (Miao, et al.). The author investigates whether the CRISPR/Cas technology can create double standard breaks (DSB) in rice callus. The successful application of CRISPR/Cas ...

Neurodegenerative Disorder

Introduction Neurodegenerative disorders refer to debilitating health care complications that occur because of slow degeneration of nerves cells. Neurodegeneration process is the progressive deterioration of structure and functionality of neurons in human body systems (Kovacs, 2016, 189). Ideally, neurodegenerative disorders represent the long-standing challenges in the field of basic science and clinical medicine. This is because of the persistence showed by the illnesses despite the unending attempts to adopt solutions to mitigate their health effects and severity on patients. The diseases affect the neurons in the human brain. As a result, it causes instabilities in the brain and spinal ...

Genetic counselling has been described as the process by which an individual fully understands and adapts to the contribution of genetic makeup in the medical and physiological state of the individual along with its influence on the familial implications of a disease condition [1]. Genomic medicine is at an all-time high in these years of fast developing technology in medicine [2]. The traditional process of genetic medicine and counselling involves the collection of data and interpretation of the history of pathology in the familial background of the individual along with the assessment of risks, informed consent, and psychosocial analysis ...

A total of 57 million deaths were reported worldwide in 2008, and the majority of those deaths were caused by either non-cardiovascular diseases (36 million; 63%) or cardiovascular diseases (17.3 million; 30%) according to the World Health Organization (WHO, 2011). The highest mortality rates are associated with ischemic heart diseases and cerebrovascular diseases, which account for 45% and 29% of the cardiovascular-related deaths in men and 37% and 33% of cardiovascular-related deaths in women, respectively (see Figure 1). Ischemic heart disease is considered the most common cardiovascular cause of death as it accounts for 7.6 million deaths worldwide (Institute ...

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Immunotherapy in Treating Human Cancer

The immune system of our body is a complex network of tissues, cells, and organs that act mutually to protect our body from unknown foreign trespassers. It recognizes the harmful particles entering the body and facilitates the destruction of those particles in order to shield the body system from any ailment. Due to any complexity or disturbance often the immune system targets the wrong particle considering it as a dangerous particle and this anomaly of the immune system may result in various autoimmune diseases like arthritis, allergies, malignancies, and AIDS (Understanding the ...

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 ...

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 ...

B. OBJECTIVE

C. METHODOLOGY Over a period of time of four week study three generations of flies starting with a parental (P) generation that has already separate the flies in each generation of each cross into males and females and separate the flies according to their mutations. Based on the observed numbers of each phenotype in each generation of each cross hypothesize the parental cross and use the chi-square (x2) test and if there is little difference between the observed results and the expected results, the chi-square will have a low value, thus, the hypothesis will be supported in this case. ...

The development of CRISPR (Clustered Regularly Interspaced Short Palindromic Repeats) technology has transformed genetics and gene editing. CRISPR’s precision and efficiency have allowed scientists to control and modify genetic material with unparalleled precision. This technology, however, presents a slew of ethical issues about its possible ramifications and implications. This essay will outline the CRISPR technology, discuss the ethical problems with CRISPR and conflicts surrounding it, as well as argue whether gene editing is ethical in general.

What Is the CRISPR Technology?

CRISPR technology is a genetic technique that allows researchers to alter particular genes in an organism’s DNA. The method employs a class of enzymes ...

Historical Background

Despite gender selection going back to our earliest societies, the history of gender selection in human embryos is relatively short. Gender Identification was first made possible in the 1970’s with the advent of technologies such as chorionic villus sampling (CVS) combined with ultrasound. This early method of sperm sorting has an average cost today of $400-600 More recently in the 1990’s the ability to reliably sex embryos for in vitro fertilization (IVF) has been the basis of the media focus on gender selection in human embryos. In 1995 clinical trials to achieve FDA approval, of this second ...

Abstract

Over thirty years after its identification, HIV and AIDS remains a somewhat elusive virus, particularly when it comes to its history as a human infectious agent, and resourcing a complete epidemiology of the disease. Part of the problem is that so many antiretroviral drugs have come out and have either been used or prescribed incorrectly. In addition, the virus, like many other reverse RNA transcriptase viruses, has a very high aptitude in terms of developing resistance to drugs at a very rapid rate. What further complicates matters is how quickly it has spread. It will probably never truly be ...

Description

The Rett syndrome is originally known as cerebroatrophic hyperammonemia. It is a rare genetic disorder which commonly affects women although there are cases where it could be found in male patients. It is considered as a postnatal neurological disorder which affects the grey matter of the brain. Rett syndrome is also considered as a progressive disorder which affects the development of the brain. It is also considered as one of the common cause of mental disorders among women. It occur about 1 in 10,000 births and it typically develops at age 6 to 18 months. The signs or ...

Introduction

Esophageal cancer is among the key health problems that is associated with numerous complications. As such, esophageal cancer is a form of cancer that typically occurs in any part of the esophagus and is among the most severe malignancies (Spechler, 2013). Essentially, this form of cancer is categorized into various types based of the cells involved whereby the most prevalent forms of esophageal cancer are Squamous Cell Carcinoma (SCC) as well as Adenocarcinoma (AC). Among the major risk factors that usually increase the likelihood of developing this form of cancer are smoking, having GERD (Gastro-esophageal Reflux disease), obesity and ...

Abstract

This paper explores a psychological disorder such as schizophrenia. This disease or disorder has very diverse symptoms and is considered to be one of the most complex diseases. This work aims at the detailed study of schizophrenia based on the various support materials to which the references are made. During the long years of study, description, and diagnosis, a number of the scientific materials have developed, which allows studying this topic in detail. This study includes the historical connotations, types of diagnosis such as the DSM, the definition of the causes of the disease, its symptoms, as well as ...

Q1. Explain the regulation of the cell cycle

Every cell is regulated by particular checkpoints to ensure that the daughter cells are exact duplications. This is to help guarantee that cell mutations are not passed on to the next generation of cells. In eukaryotic cells, there are three main checkpoints. These are points at which cell replication can be halted until certain conditions are met (Boundless, 2016). The first checkpoint is near the end of the G1 phase. It is here that DNA gets evaluated and checked for damage. If damage has occurred, it either gets corrected or gets prevented from moving on to the next phase ( ...

Abstract

The uses of radiation revolutionized medicine when experimentation on its potential applications begun. X-Ray technology, discovered by Wilhem Roentgen, is currently used as a common tool for diagnostics; Henri Becquerel, Marie Curie and Pierre Curie dedicated themselves to further investigations in the field, discovering additional radioactive materials (polonium and radium); radiation therapy is a popular treatment for cancer. This paper analyzes the historical background behind these two applications of radiation in the medical field. Moreover, the different types of radiotherapy are described (external-beam radiation therapy, internal radiation therapy). The concept of radiation homeostasis, which is the notion that low-dose ...

The purpose of this paper is to review the etiology, pathophysiology, clinical manifestations, inheritance patterns, and recent advances in disease management of cystic fibrosis. Cystic fibrosis is a progressive and lethal disease resulting from an autosomal recessive gene (Singh, Rebordosa, Bernholz, & Sharma, 2015). The major problem associated with cystic fibrosis is the repeated lung infections that over time severely damage the lungs, scar and widen the passageways and limit the ability to breathe (Cystic Fibrosis Foundation, n.d.). As of 2013, there are an estimated 70,000 cystic fibrosis patients globally with 33,000 of them in the United States ( ...

Cystic fibrosis is a chronic, progressive and often deadly genetic disease that affects the body’s mucous glands. It follows that cystic fibrosis (CF) is evident in the body’s digestive and respiratory systems, particularly in children and young adults (Flume et al., 2007). In some cases, it affects the reproductive system and the sweat glands. A CF-like disease has been known over the past two centuries, but it was in 1938 that the term cystic fibrosis was first used. CF may also be considered to be an autosomal-recessive disease. Its estimated heterozygote occurrence is one for every twenty ...

INTRODUCTION

There are many different conditions, diseases, infections and disorders that can negatively affect human beings, damaging their bodies, compromise overall health, diminish their quality of life and very often lead to the sufferer’s death. Polycystic kidney disease in one of these more serious conditions. Polycystic kidney disease is an incurable condition that encourages the growing of cysts which can overtake the kidneys, cause them to malfunctions and even fail all together. More than 600,000 people in the United States are living with polycystic kidney disease and the condition contributes to more than 5% of all cases of ...

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Introduction

Polymerase Chain Reaction (PCR) is a very influential technique that helps in amplifying the specific segments of DNA. This biochemical procedure is performed in-vitro that is quite different from cloning. This technique is a fusion of synthesis protocol of distinct repeated segments of DNA and thermostable DNA polymerase application that has given scientists a very potent analytical, immunological and molecular technique used prevalently in clinical laboratory science (Garibyan & Avashia, 2013). PCR is based on three primary steps that include denaturation of the template into single strands, annealing ...

1. a. The pKa value of an amino acid is an indication of how strong or weak an amino acid is, based on the said acid’s dissociation constant. An amino acid that has a high pKa value is weaker than on that has a low pka value. Given that an acid’s dissociation constant is Ka, the pKa value is given by the formula: pKa = -log10Ka pH = pKa + log ([A-]/[HA]),It follows that for Cys12, 7.4= 7.2 + log([Cys-]/[HCys]) 7.4-7.2 = log([Cys-]/[HCys]) 0.2 = log([Cys-]/[HCys]) 100.2= Cys-/HCys Therefore, Cys-/HCys = 10-4Similarly, ...

Abstract

In the novel ‘Black Hole,’ teenagers who engage in sexual behavior contract a decision that leads to genetic mutations which are hard to conceal. The disease is a replica of the Aids Pandemic and the struggles which teenagers have to endure during their adolescent years. The importance of the study is to identify how teenagers in the book the black Hole relate to the youth in the current society. Teenagers experience hormonal imbalances which cause them to lose control and are mostly controlled by their sex drives. Sexual attractions are common during this developmental stage of life, and most ...

Abstract

Worldwide, ovarian cancer is ovarian cancer is the sixth most diagnosed cancer and is responsible for the most deaths annually than any other disease of the female reproductive system. It has a poor prognosis because the symptoms are vague even into Stage IV of the disease. Epithelial ovarian cancer constitutes about 90% of diagnosed cases. Research has demonstrated that hormone therapy, chronic pelvic inflammation, and BRCA1 and BRCA2 germline pathogenic variants are factors in the etiology of ovarian cancer. BRCA1 and BRCA2 is also associated with breast cancer, pancreatic cancer, fallopian tube cancer, prostate cancer, and primary peritoneal cancer. ...

Gene Expression and Signaling Class

Short Answer Different Phenotype in PTEN Mutations While PTEN is either mutated or lost in both spontaneous and heritable cancers, the p110 alpha is frequently mutated in major forms of cancer such as breast cancer, endometrial, colorectal, ovarian, and prostate cancers with a greater prevalence of breast cancers (Nagata et al., 2004). Besides, the monoallelic loss of PTEN mostly contributes to the growth of tumor in the context of other somatic mutations in which case the count of PTEN proteins correlates with the severity of cancer, an indication that PTEN is haploinsufficient in functionality. Additionally, while the gene encodes ...

Major Achievements in Biology

Researchers and scientists are always intrigued by biological processes and activities, and strive to utilize them for benefit of mankind. Antibiotics, monoclonal antibodies, vaccines and several therapeutic agents, high yielding as well as disease tolerant plants and animals are all results of extensive research in the fields of cell and molecular biology, immunology, biotechnology and genetic engineering. Treatment to several diseases, even genetic disorders are available today only due to breakthrough discoveries in biology. Three such important discoveries are revelation of structure of ribosomes through X-ray crystallography, identification of tumor specific antigens (TSA) expressed on the surface of cancer ...

1. Drosophila melanogaster has been used as a model organism to study human genetics because: it shares 75% homology with human diseases causing genes. Developmental genes are highly conserved in humans and Drosophila. Certain mutations can affect the same tissue in both the fly and human. Example of homologous genes includes: Hox gene, PAX 6, SALL1, TWIST 1, NKX2-5. Drosophila offers several other advantages that makes it an ideal organism for genetic diseases. The fly is easy to maintain and manipulate. It produces a large number of offspring’s and has a short generation interval that is very favorable ...

Introduction

The treatment for multitudes of diseases and disorders resulting from genetic reasons have been ambiguous since long as the only cure could be the correction of genes and DNA in the specific region. Gene therapy gave a promising horizon to the correction of such genetic defects whereby molecular tools are applied to reverse the mutation or any other changes in the DNA. The advancing biomedical research have offered several tools for gene therapy since last few decades that have been able to perform the desired roles but with one or the other limitations. Lately, CRISPR-Cas9 based tools for gene ...

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Introduction

Parkinson Disease (PD) is a very complicated neurodegenerative condition including the motor and non-motor manifestations that lead to neuronal loss. Currently, only symptomatic therapies are available but nothing is known yet to prevent this degenerative process. This is a multi-factorial condition with multiple risk factors that includes increasing age, genetic vulnerability, and environmental determinants. All these factors mutually play a role in the pathogenic process of PD. Medical sciences have achieved major advances in understanding the process working behind PD development that are Nigral Dopaminergic Apoptosis, Protein ...

Abstract

This paper is about the investigation of Parkinson’s disease, and in particular is involved with the examination of its symptoms, stages, causes, prevalence, diagnosis and treatment, and social impacts. Finally, the paper analyzes and evaluates two ongoing on Parkinson’s disease researches, which are also examined in respect to their impact on Parkinson’s disease patients. Key words: Parkinson disease, Parkinson disease causes and impacts, Parkinson disease symptoms and prevalence, Parkinson disease diagnosis, and Parkinson disease ongoing research.

Idiopathic Parkinson disease (PD) is a progressively evolving disease with main manifestations resting tremor, muscle stiffness, slow movement and loss ...

Introduction

Cystic Fibrosis (CF) is the most prevalent genetic disorder in the Caucasian population, with an incidence of 1 in 2500 births. CF is a disease that affects many organs including the upper and lower respiratory tracts, pancreas, intestines and reproductive system. Over the past 20 years, our understanding of the manifestation and management of the disease has progressed dramatically. CF was once considered a condition of childhood and there was very little expectation that children would enter adult life. However, CF has become a multisystem adult disease with the increased survival attributable to advancements in standardized treatment, introduction of ...

Abstract

Obsessive-compulsive disorder is a syndrome, the causes of which rarely lie on the surface. It is characterized by obsessive thoughts (obsessions), for which a person responds with certain actions (compulsions). Obsession is a thought or desire that constantly emerges in the mind. It is difficult to control this thought or get rid of it, and it causes a lot of stress. In this paper I would like to tell what is obsessive-compulsive disorder, by what factors it may be caused, reasons of its appearance, what factors contribute to the development of this disease and how it is treated.

Briefly about OCD

Common ...

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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 ...

Dr. 1

Define the term probiotic. (Make sure you include the three components of this definition and use your own words—DO NOT copy the statement from the slide).

Probiotic is a term used to define microorganisms that are believed to have health benefits to humans when consumed.

When did the NIH human microbiome project begin and what were its two major objectives? NIH human microbiome project began in the year 2005. Its two major objectives are to identify microbes present human body and identify their role in human health and disease

Which different mechanisms were suggested through which microbiota may contribute to colorectal cancer?

Microbiome can contribute to colorectal cancer by the production of toxic and genotoxic bacterial metabolites that can lead to mutations by binding specific cell surface receptors and affect ...

Cancer is the second leading cause of death in the United States. It is a term given to a series of diseases in which the cells within human body grow at an abnormal rate, thereby damaging healthy tissues . While normal cells grow and die at a specific rate according to the requirements of human body, the growth of cells is extreme when compared to the death of cells in cancerous patients. Such an abnormal growth in turn leads to tumors, which consist of a huge mass of tissues. However, in patients suffering with cancer related to the blood, there ...

Abstract

Cancer of the lungs is among the leading causes of cancer in the world. It has two forms; small cell lung cancer (SCLC), and non-small-cell lung cancer (NSCLC). NSCLC constitutes about 85% of cases of lung cancer. Epidermal growth factor receptor (EGFR) and its mutations are found to have an important role in this cancer. Therefore, EGFR tyrosine kinase inhibitors (TKIs) can work effectively against NSCLC. Gefitinib, which is a first generation TKI, and afatinib, which is a second-generation TKI, are effective as a first-line therapy for advanced NSCLC. Erlotinib is effective as a second-line therapy for advanced NSCLC. ...

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 ...

Abstract

In the following case-study, Joshua is a newborn infant presented by his parents Samuel and Rachel to the pediatric outpatient unit of Robertsbridge, Sussex for screening and medical advice for sporadic vomiting at the time of breast feeding and seizure-like episodes. Samuel and Racheal also report sweet odor in the urine and loss of weight. Blood tests demonstrated increased concentrations of leucine and isoleucine. Genetic testing on the skin biopsies reveal mutation at Exon 6, c.659C>T of the of BCKDHA gene with a protein level p. A220V and Joshua exhibits about 1.5 % lesser than normal deficiency in the ...