##ome-Wide Association Studies : The Human Genome Model For Disease

In recent years, genome-wide association studies (GWAS) have successfully tagged thousands of disease- or trait-associated genetic loci. However, molecular mechanisms linking the locus to the disease phenotype often remain unclear. Moreover, for most complex diseases and traits, associations found in GWAS explain only a small proportion of the phenotypic variation (129, 130). For example, although 71 independent loci have been associated with Crohn 's Disease, they account for only 23% of the estimated heritability (131). GWAS of psychiatric diseases show an even less favorable picture. For instance, schizophrenia has an estimated heritability of 80% (132, 133), but observed genetic variants currently account for less than 1% of the variance (134). To bridge this gap between genotype and disease phenotype and to better understand the biological mechanisms and translational possibilities, the genotype-driven approach, aided with deep phenotyping, appears to be a more appealing and powerful strategy (135, 136). A limitation of this approach however, is that the disease pathologies are often tissue- or cell type-specific (137-141), and due to ethical and practical reasons, deep phenotyping analyses are often only feasible in easily available surrogate tissues such as blood, particularly in large population-based gene identification studies. The iPSC technologies discussed here in this chapter, along with new sequencing technologies, genome-wide assays, and comprehensive genome

The mapping of human genes has allowed for certain genetic disorders to be identified according to the genes that it is affecting. This has created a map that other individuals' genes can be compared to in order to determine any mistakes or any alterations that may lead to the development of a disease. Any changes in epigenetic

HC1: Personalized medicine is a relatively new practice that involves using a person’s genetics to make medical decisions about which direction to take in terms of disease prevention, treatment, and diagnosis (“Personalized medicine,” 2015). The practice of personalized medicine allows doctors to predict which diseases a certain individual may be susceptible to so that proper treatment less likely to harm the patient can be ensued. This could potentially be an incredible breakthrough in the field of science and medicine (“What is personalized”, n.d.).

According to Chrystoja and Diamandis (2013), targeted genome testing is less costly than some traditional testing methods, is effective in assisting decision making for certain neoplastic medications and is useful in guiding the proper testing for certain diseases such as Lynch Syndrome. In addition, genetic makeup determines the pharmacokinetics of certain drugs and genome testing may assist in medication therapies. Studies indicate that genetic predisposition determines the effectiveness of 20% to 95% of prescribed medications (Bartlett, 2011). With DNA information, a physician can prescribe a tailored medication treatment that will benefit the

In recent discussions of medical advancements, a controversial issue has been genome mapping poses risks to its patients. On the one hand, some argue that it is going to be time consuming and costly. On the other hand, however, others argue that this can be a breakthrough in medicine. In sum, then, the issue is what America’s next step towards medical advancement is going to be. While some believe genome mapping poses many unseen risks, genetic testing can help identify unsurfaced illnesses.

Our incessant curiosity for knowledge and answers has prompted the intricate research institutions we know today. Among the volumes of research, scientists have searched for innovations to better understand the human body and edge closer to more individualized medicine. In 1990, breakthroughs in genetic technology allowed for researchers to begin a quest to map and understand all the genes of human beings. A mere 13 years later and just shy of $3 billion invested the Human Genome Project successfully mapped the billions of base pairs involved. With the ability to diagnose specific abnormalities, researchers and medical professionals have saved hundreds of ill children to which their survival was indefinite. However, with scientists continuing

The Human Genome Project, also known as HGP has helped our society crack the code in the small differences between human DNA that make up our health and can already pinpoint future illnesses. HPG was an international joint research preparation with the goal of mapping and trying to understand all the human genes sequences through generations. Researchers have been able to decode our genomes and understand them in three different ways. First off they have been able to see that our genome’s DNA has a certain order, and that order helps make up who we are; Secondly they are able to map where certain genes are and where they are located on the chromosomes. And third, being able to produce “linkage maps” that can help track inherited traits

Often, with the discovery of knowledge come difficult questions, thorny ethical issues, and unintended consequences. Armed with this new ability to sequence human genes, science grabbed medicine by the hand and charged into uncharted territory. Could we now “personalize” medicine?

With the use of our ever-growing genetic understanding, we are rapidly moving towards personalised cancer treatment. The availability and affordability of technologies allowing us to gain a comprehensive molecular characterisation of tumours and one’s own genetic make-up, brings personalised medicine right into the forefront of cancer treatment. Personalised medicine promises to be a potentially revolutionary new form of cancer treatment, with the use of indicators such as discrete genes and proteins to differentiate one cancer type form another and enable the use of targeted therapies. Throughout this project I explore exactly what personalised medicine is and investigate the opportunities and challenges that accompany its potential to be next new form of cancer treatment.

Personalized medicine is the novel medicine of the millennium where medicine used is determined via a person’s genetic makeup and how the tumor grows using personalized medicine. Personalized cancer treatments hold great promises as it involves selection of treatments based on a person’s unique genetic makeup and the genetic makeup of the tumor. Nowadays, a person receives a standard treatment plan with specific personalized cancer treatments which tailors for the right cancers.

In recent years, treatment options for advanced solid tumors have significantly advanced.1,2 Patients now routinely have their tumors genotyped in order to identify genomic markers that can allow their treatment to be personalized with targeted therapies that are less toxic and more effective. Prior studies have found that up to 64% of patients have these oncogenic drivers, and patients with these drivers in their tumors live longer when they are treated with targeted therapy.1 The Profile project was launched at Dana-Farber Cancer Institute and Brigham and Women’s Hospital in 2011 as the platform for Precision Medicine. Profile provides detailed testing on tissue samples obtained during the course of clinical care for a panel of genetic

As we know, everyone one has a unique gene sequence. Personalized medicine is helping us to understand disease characteristics at the gene level and create better treatments programs by studying our genetic profile. A web writer at the American Society for Clinical Pathology John Sarver (2013) says: “The

Today’s society has an ever growing thirst for knowledge as we have for many hundreds of years now. Scientists work around the clock studying the affects of nearly everything they can think of to conduct experiments on. This quest for knowledge is the supposed start to a better life for man kind and ultimately a world without disease or hunger. The human genome project is one that has been going on for about 20 years. This project set out to map, down to the last detail, every part of the human DNA structure (“Human”). The project has recently been completed and the scientists are now starting another project with their newly found information, to cure mankind of its ailments.

Genome wide association study has been very useful in the recent years. It has helped researchers to detect genes that are not detected that easily. With the detection, it helps the researchers to prevent and treat the particular disease. Breast cancer has been one of the most common cancer in the world and the most common in women. Even though, breast cancer is detected easily with mammograms or self examination there are times where it can be hard to detect. Genome wide association studies help to identify the genes that are in risk for breast cancer. Every population has different lifestyle, genetic variants and other factors. Sometimes not every SNP (single nucleotide polymorphisms) are present in every population. Genome- wide

Josko (2014) asserts that the era of personalized medicine is upon us, and that with the completion of the Human Genome Project, and advances in DNA sequencing techniques and