HOW CAN NGS FORWARD RESEARCH IN POLYGENIC DISEASES?By Joymariel Melecio-Viñales Recently, I was asked how Next Generation Sequencing technology may lead to significant advances in the study of polygenic diseases. As not being Biology my area of expertise, this question led to a lot of research. The first thing I did was to study the term polygenic, from which my first guess it was to mean “many genes” as poly- derives from the Greek meaning “much or many” and “genic” from gene, either the production of or to be related to genes (YourDictionary, 2013). Therefore, there was a chance of the term polygenic disease to describe a disease or illness related to a disorder in the gene or influenced by many genes. Scientific literature defines a polygenic disease as an affliction that runs in the family, however, only a few members of the family exhibit that phenotype (Alberts, et al., 2008). But what is a phenotype? Well, Alberts, et al. defines phenotypes as a characteristic that can be observed from an individual or a living organism (cells). What is really interesting is that these characteristics can be either physical or behavioral (Alberts, et al., 2008) (T, Jasuja, & Sehgal, 2016)and that these by be affected by either environmental factors or genetic disorders (Kitchen, 2010). This means that those characteristics that define you such as your hair color, eye color, height, skin color and weight, among others, and if you are bipolar or suffer severe anxiety, including any
Development in personalized medicine could greatly influence the current standards of diagnosis, prognosis and treatment. The Human Genome Project guaranteed a revolution in the individualized treatment concept. Just as a person’s characteristics are unique to their genomic information, the origin to a disease could be correlated with the genomic sequences unique to that person. An advantage of such a therapeutic approach is diagnosing the possible susceptibility to a disease and preventing this outcome by providing drug therapies much before its outbreak.
The medical advances being made feasible by genetic testing are very exciting. It is possible for people with predispositions for genetic defects to know in advance if they will have a healthy child or not. If they find out there is a problem they can choose to terminate the pregnancy or they can prepare in advance for their child's special needs. There is even new technology called Ex Utero genetic testing. This test is performed on eggs fertilized through in vitro fertilization before they are even put in the mother's uterus. Understanding genes in the developing human will help doctors understand the nature of genetic diseases and may lead to countless other medical breakthroughs. Though it is probably a long way off doctors may one day be able to manipulate genes. If this is possible some genetic problems may be cured.
Genetic testing is used to determine the risk of a patient or patient’s offspring developing genetic diseases. This is done with DNA sequencing in adults and preimplantation genetic diagnosis (PDG) on embryos. These methods of genetic testing are effective means of determining the likelihood of developing diseases such as Huntington’s disease, a disease resulting from trinucleotide repeat on chromosome 4p16.3 that causes uncontrollable muscle movement and decrease in cognitive function. However, they only determine probability, which isn’t an entirely reliable means of knowing whether or not symptoms will arise.
Bob had realized that NSS needed an outside advisory board to further fuel growth of the company. Additionally, he was looking for outside counsel to prepare the third generation of Wilsons to take control of the company.
The benefit of genetic science for individuals is that it can determine if the person has a possible genetic disorder and give them
Epigenetics is the future of science. It has evolved from being a science that very few believed in, to one that will shape medicine as it is known. As the Human Genome Project began, the goal was to determine which genes controlled what phenotypes in a human. After all the genes were identified and mapped, the expression of the genes that the scientists had just discovered was also beginning to be analyzed (EPIGENETICS). Although every gene had been identified and associated with a function, there were genes that if not expressed or not turned on, would create a different scenario. That is, the idea that the genotype of an individual would determine their phenotype was reinforced. Epigenetics however is the study of the switching on or off of the genes responsible for a particular action (Feinberg). For example, all of the organs of a single person have the exact same DNA as the others, yet a lung looks drastically different from a kidney. This is due to the expression of the genes responsible for creating a specific organ. If scientists are able to control the switching on and off of these genes, then many extraordinary possibilities exist.
Braun tells me that there are possibly a million SNPs in each person, though only a small fraction are tightly linked with common ailments. These disease-causing SNPs are fueling a biotech bonanza; the hope is that after finding them, the discoverers can design wonder drugs. In the crowded SNP field, Sequenom vies with Iceland-based deCode Genetics, American companies such as Millennium Pharmaceuticals, Orchid
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.).
Everyone stands to benefit from the developments made in the field of genetics as everyone is made of genes. Genetics is the study genes and how they influence human biology. Genes are the molecular unit of inheritance found in cells, these genes encode everything about human physiology ranging from eye/hair colour to height, possible mental/physical disorders and so on. The field of genetic testing is concerned with advancements in the study of the functions of individual genes and how they influence living things. Major advances have been made in the study of the genetic structure of humans and external influences to our internal makeup, such as our quality of life and their implications that may have on our physical and mental development.
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
How has knowing the structure of the human genome changed the understanding of genetic disorders?
The dream of perfect offspring, and the nightmare of genetic tyranny. Cohen thinks that there are two errors committed with new genetics, “worrying too much too early and worrying too little too late,” (40-41). Cohen suggests that the way to approach this new technology is critical. He mentions three different approaches that could be taken: a scientific approach, “the transfer of genetic knowledge into medical technologies,” (7-8); a social approach,” seeking to understand the economic incentives that drive the genetic research agenda, or surveying public attitudes toward genetic testing,” (9-12); a public safety approach, “reviewing different genetic tests and therapies for safety and efficacy,” (15-16). Mitchell believes that all these approaches are valuable. The idea of genetics being used for human re-engineering is bit farfetched. Eric Cohen declares that there are five dimensions of new genetics: (1) a route to self understanding; (2) route of new medical therapies; (3) potentiel human re-engineering tool (an eccentric idea); (4) biological destiny of the human future; (5) screening traits of the next
The sequencing of the human genome has a new approach to health care in regards to promotion, maintenance, and treatment. Genetic research is defined as a new approach to a better understanding of the genetic components of common diseases: Cancer, diabetes, stroke, and creating new gene-based technologies for screening, prevention, diagnosis, and treatment of both rare and common diseases. Nurses are a main aspect within the first line of care, and therefore will contribute fully in genetic-based and genomic-based practice activities such as collecting family history, obtaining informed consent for genetic testing, and administering gene-based therapies. Lea, D, (January 31, 2008). My paper is based on an article Genomics in the public
Control’s panel stated that “As we acquire more knowledge about the molecular basis of genetic
Exploration into the function of each gene discovered will continue well into the 21st century. The knowledge gained from this will lead us to better understand the cause of genetically related diseases. Having the ability to recognize the causation of a disease will shift technology from trial and error treatments to specific drugs designed to treat the gene sequence and protein structure. This is called gene therapy and is the most exciting aspect of the HGP. It gives the