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The promise of genetics research in curtailing the prevalence of current diseases

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Genetics and genomics are constantly advancing branches of biology, and society’s current knowledge of genetics traces its roots back to the mid-19th century with the works of Gregor Mendel—the “father of modern genetics.” The purpose of genetics research is to study the human genome to pinpoint the environmental factors and genes that contribute to the growth and development of diseases. By identifying the source of a disease, researchers can detect it, more efficiently treat it, and possibly prevent it from recurring again, all in one long-term treatment. 

From the 1800s to the mid-1900s, it was not yet understood by the scientific community that hereditary genetic material is responsible for the inheritance of traits from one generation of individuals to another generation. That continued until 1953, the year when the actual double-helix structure of DNA was discovered. The scientific community began studying the genetics of populations and then transitioning to the individual and the molecular basis of inheritance. 

Contemporary knowledge of genetics has led the scientific community to understand that, in some cases, one’s genes are linked to diseases that run in the family and influence how they react to infections, medicines, treatments for health conditions, or to specific behaviors, such as smoking or alcohol usage. 

What has particularly drawn me the most to studying genetics is its clinical component, which is that researchers are consistently discovering new ways to combat various genetic diseases. Innovative thinking is critical to advancing the fields of genetics and genomics; inventions such as DNA sequencing technologies and genome editing have allowed scientists to accumulate a greater wealth of knowledge concerning the human genome and how genetic material is adapted.

Nearly every known disease consists of a genetic component, and depending on the disease, the genetic contribution may be large, small, or in between. Researchers study nearly every disease to find out how genetic factors may contribute to and stop the source of the disease. In gene therapy, for example, researchers target the source of a disease (the faulty genes causing a virus) and replace those genes with newer, healthier ones. Gene therapy is one way in which researchers can target a disease. 

Another notable way to do so is gene editing. An example of this could be in sickle cell disease. The genetic blood disease affects 8 million people around the world, and 100,000 individuals in the United States. This is where gene editing comes into play; just a single base change (a correction, introduction, or removal of a DNA sequence) in an individual could effectively stop the continuation of a genetic disease such as sickle cell disease. When attempting to locate genes that contribute to a disorder, researchers will occasionally examine candidate genes. Candidate genes are genes that researchers believe might be involved in a disorder, either because of what they cause and/or because they are found in a specific area of DNA. Genetic approaches, such as gene editing and gene therapy, to treating illnesses by altering a component of an individual’s genotype could potentially eliminate means such as needing surgery or pharmaceutical medicine. 

Not only does genetics research offer applications in the medical field, but it also introduces numerous non-clinical applications. In forensic science, scientists can utilize biological material left at a scene of investigation as a form of DNA evidence and construct a DNA profile, or genetic fingerprint of that individual. Genetic technologies also modify the way civilizations produce food, upgrading crop yield and preventing catastrophic losses from droughts, floods, and pests. For example, researchers have been using CRISPR-Cas 9, a laboratory tool that edits fragments of a cell’s DNA originally adapted from a naturally occurring genome editing system bacteria use as an immune defense, to alter plant DNA sequences to breed plants with certain desired traits. Breeders are also able to produce targeted knockouts of an undesired gene that negatively influences yield quality and food traits. Plants can be genetically engineered as well to make adjustments to their standard genetic structures such that they contain new characteristics that improve crop production efficiency.

From my perspective, genetics and genomics are truly fascinating and captivating fields of science. Through discovering new methods and approaches to combating genetic illnesses, millions of lives can be saved, as people can receive quick and precise treatments. It gives not just the scientific community, but society more broadly, the opportunity to gain valuable insight into human behavior, development, and the evolution of the gene pool. To further support genetics research, there has been $3.3 billion in federal funding, as of 2019, allocated to genomics research and human genetics, primarily at the National Institutes of Health (NIH). The National Human Genome Research Institute (NHGRI) acquires its funding via annual Congressional appropriation. 

In my future endeavors and when I step into the career world, I seek to fully pursue research in genetics and genomics, seeking to help innovate and progress this rapidly advancing field even more. It should be underlined that our current knowledge of genetics may only scratch the surface of an entire abundance of information waiting to be discovered. That is why it is important to continue funding and attention to genetics research to accumulate a greater degree of knowledge in biology, and with that, future advancements.

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