What is Bioinformatics? A Guide to Biological Technology
What is bioinformatics? This is a question that one probably wouldn’t ponder unless the word “bioinformatics” were to come up in conversation or read about in an article. Bioinformatics is a specific research and development field dealing with technology that organizes, stores, and retrieves biological information. On top of that, bioinformatics technology may also process certain types of biological information on a level that would be highly difficult for humans to interpret and process by hand. Comparing and matching DNA sequences and pinpointing genome mutations are just part of what bioinformatics has a hand in.
The Beginning of Bioinformatics
The basic foundation of this field began in 1970 with the actual coining of the phrase “bioinformatics.” There weren’t any major developments in this area until the early 1980′s when scientists began to make major headway in gene mapping. “In situ hybridization,” a hybridization technique that allows scientists to locate specific DNA and RNA sequences in a tissue, became the preferred method in genetic mapping. In the late 1980′s, HUGO (the Human Genome Organization) was created and some of the world’s top scientists helped to launch the creation of the Human Genome Project. In just a few short years HUGO had successfully mapped almost 2,000 human genes. In 1996, a French genome research center called Genethon created the first fully completed human genetic map.
The completion of the human genetic map kick-stated a demand for large-scale databases—a means of storing and retrieving all of the genetic data produced by the Human Genome Project and several other similar projects that were cropping up. Scientists not only began to create various algorithms to locate and map various sequences of DNA and RNA, but they also began to broaden the types of technology used to detect and manage their findings. In the late 1990′s scientists made major discoveries using bioinformatics, including the genetic link to preeclampsia, mapping the E.coli genome, and discovering the location of the FET1 gene. Further efforts went into sequencing complete chromosomes. The Human Genome Project reached completion in April 2003.
A Career in Bioinformatics
Although there have been great strides made in this field over the last couple of decades, scientists are still striving to fully sequence each chromosome in the human body and to better understand the nuances of each one. This will give scientists and doctors a better understanding of what traits are governed by specific chromosomes and also which medical conditions are linked to the presence of certain mutations or defects on a chromosomal basis. This type of biomedical research can give humanity the edge it needs to overcome some devastating chromosomal conditions, such as Down syndrome, Edwards’ syndrome, William’s syndrome, and Patau syndrome.
Pursuing a career in bioinformatics is a great way to contribute to the research that will hopefully help scientists gain a better understanding of the intricacies of the human genome. Many individuals shy away from a career in bioinformatics because the prospect of learning and retaining large amounts of biological and scientific information may seem overwhelming. In truth, a career in bioinformatics is largely based upon mathematics, engineering, and computer science. Many individuals who work in this field are trained to gain a deeper understanding of computer-based technology with emphasis in improving existing technology and engineering new and innovative machines. In reality, one needn’t understand the intricate biological details of the human body in order to create a computer code to isolate, analyze, and store genetic information. Individuals with a gift for computer coding, technology, a math might genuinely be cut out for a career in bioinformatics. Knowing that one will contribute to humanity’s understanding of genetics (thus possible future prevention of genetic conditions) can be extremely rewarding.
Higher Education in Bioinformatics
More and more higher learning institutes are offering interdisciplinary training in bioinformatics. Those who are interested in pursuing such a degree may have a lot of questions about what his or her education might entail. Each university and college has its own curriculum for this degree program which may be influenced by any specialty areas that may be pursued. Most degree programs in bioinformatics are Masters or Bachelors of Science, Engineering, or Art. These degrees require anywhere from three to five years to complete. If desired, one may also pursue a Ph.D or Doctorate of Science in computational biology or biomedical informatics. For those less interested in long-term educational commitments, there are also certificate programs offered by colleges and universities all over the world. Some institutes even offer the opportunity to gain a certificate or degree through online education, which might be ideal for those who are pursuing this education “on the side” or who are have other commitments that make it difficult to attend classes on campus.
Understanding the primary goals for those who participate in biomedical informatics can better help to answer the question: what is bioinformatics? The main goal is to simply better understand the “genetic puzzle” that is the human body. To decipher the coding that is essentially the blueprint of life. In turn, understanding these nuances can help scientists develop better pre-diagnostic tools and maybe eventually even create a method for correcting abnormalities and mutations of a genetic nature.
Just what is genomics? Most people have some idea as to what genetics is all about, or are at least familiar with the term. Introduce genomics into a conversation however and you’re apt to get a blank stare. There are those who use the two terms interchangeably, thinking they mean the same thing, but that’s not quite true, even though there is a definite relationship.
It’s All in the Genes
When we think of genetics, we usually think of it in terms of heredity. We inherit our ancestor’s genes, both the good ones and the not so good ones. When the conversation in about genetics, it most often is about individual genes and what their role is in heredity.
If genetics focuses on matters of heredity then, just what is genomics, and what is its focus? If you haven’t heard the term before, you still very likely have run across the term genome, specifically the human genome. A genome is much more complex than a gene, because it is a collection of genes. The human genome is in fact a collection of all of the genes that make up a given organism, whether that organism is human or something else.
Genes and their relationship to heredity can sometimes be a complex study. The study of a genome, or complete collection of genes is significantly more complex. More complex still is the study of genomics. That still doesn’t tell us what the term means. So, one more time, what is genomics, and why is it such a complicated study?
It’s Not All in the Genes
Genomics is the study of the genome, and in most instances it is the study of the human genome. What makes it complicated is that it is the study of the human genome as it interacts with its environment. This means that non-genetic factors come into play. Genomics isn’t just about what the human organism is like, but what it is like in relationship to the environment it is in. That environment is often expressed in terms of a person’s lifestyle.
This of course leads to yet another question. If genomics is the study of the genome as it reacts with the environment it is in, of what importance is such a study? What are the goals of the study of genomics? The answer is actually fairly straightforward. If you come down with some disease, the cause of that disease could he hereditary, or it could be caused by something in the environment, which could be anything from germs to simply leading an unhealthy lifestyle. Your genetic make-up might be the cause of a disease you come down with, or it could make you more susceptible to a disease where the environment is a factor, or it could make you more resistant to certain diseases.
In other words, you can’t totally separate diseases that are a direct resort of a person’s genetic make-up from those diseases, like the flu, that come from the outside. You genetic makeup could be such that you have a weakened immune system, and consequently you will fall victim to any germ that happens to be passing by. Monogenic diseases, those that directly result from genetic disorders, are relatively rare, affecting less than one percent of the populations. Many diseases, such as heart disease, asthma, and diabetes, to give three examples, are much more complex, and their cause is often due to some combination of genetic and environmental factors.
Why the Study of Genomics is Important
What the study of genomics does, or is trying to do, is gain a better understanding of those complex diseases whose causes are not always well understood. Many of these diseases appear to have roots both in the environment a person is living in and the person’s genetic makeup. The more that is understood about the human genome, and the ways in which the environment can impact it, the greater the knowledge will be as to what causes certain human diseases and disorders. At least that’s the hope.
The genome and the environment it’s in represents a dynamic system, and dynamic systems are more often than not complex systems. Genomics addresses this complexity by going about trying to understand it by a disciplined approach that has been built around a great deal of knowledge.
An analogy may be of some help. If you are studying a single plant, and how well it is functioning in the environment it’s in, it would be analogous to a study in genetics. If you’re looking into the health and well-being of an entire garden, it would be analogous to a study in genomics. Looking at one plant is like studying a single gene, including the effects of the environment on that gene. Studying the garden requires looking at multiple genes, the effect of the environment on those genes individually and collectively, and the effects interactions between the different genes. This is one reason why, in a vegetable garden, it’s not always a good idea to plant certain types of vegetables too close to certain other types of vegetables. It gets complicated.