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Genetic Conditions


Genetics is a relatively new science that will have a major impact on a number of people in the years to come. Genetic conditions, also known as genetic diseases are some of the more tragic diseases that individuals may have to deal with.  Most people discover that they have a genetic disease quite early in life and as such are raised with the some association with medical professionals in order to deal with the difficulties associated with the problems they have.  Some of the genetic diseases are not disease that we might normally associated with a genetic disorder, however, the following list, you might be surprised to discover, includes disease that are either entirely genetic in cause or are only suspected to have some genetic elements to them.  This list includes: ADHD, asthma, diabetes, down syndrome, dyslexia, sickle cell disease, hemophilia, autism, cerebral palsy and lupus.  Throughout the course of this article I will be looking at a couple of these in more detail.


In general, human genetics is a very complicated subject which cannot be adequately explained in a really comprehensive manner in article of this length.  However, I think that some of the more common knowledge aspects of genetics as originally discovered in part by the famed scientific team of Watson & Crick are that the human genome, located in our DNA is a double-helix in structure and contains all of the necessary genetic information in order to replicate us.  There has been much debate ever since the rise of genetics as to what degree we are all a product of our genes.  I think that we have come to not a general consensus, but at least a problematic whereby it is on a case by case basis that we understand traits to form, but that in general we should not be overly genetically deterministic.  Rather, we should consider human beings to be in some sense a product of their genes and in other sense to be a product of environmental considerations.  These environmental considerations can be quite broad based from the conditions faced as a developing fetus in the womb to the chemical pollutants that might be encountered on a daily basis in modern life.  Similarly, with some disease there are both potential genetic considerations to be taken into account, but there are also potentially contributory environmental factors which need to be taken into consideration.


Presently, there is a lot of research in the biotechnology sector that is going into identifying the genetic causes of many diseases.  In some cases, it is believed that there is a single gene involved that causes a genetic disorder.  In addition, it was once thought that the key to eliminating a genetic disease was to identify the gene that was responsible for the disease and to find a way of simply turning it off.  However, over the years, as research has progressed in a number of important diseases it has turned out that the identification and remedying of genetic disease can be a far more complex procedure than we might have otherwise thought.  In fact, in some cases, it is a complex interplay of genetic causes that can cause a genetic disease.  In addition, there might also be contributory environmental factors, as previously mentioned, that can be contributory to the forming or causing of what we might otherwise have thought to be a purely genetic disorder.


In addition, not all genetic disorders are heritable, though some are.  One interesting example of this is Down Syndrome.  Also known as trisomy-21 it is a potentially debilitating genetic disorder that affects the development of children in a number of ways that is quite unfortunate.  What causes Down syndrome has to do with the number of chromosomes in the X chromosome.  In Down syndrome there can be multiple copies of the twenty-first chromosome which can cause these developmental issues.  In general, though genetic in nature, it has to do with the formation of the sex chromosome that is problematic and in fact in the vast majority of cases Down syndrome is not heritable.  However, there is one form of Down syndrome where one of the extra copies of the twenty-first chromosome becomes fused onto another one of the chromosomes and as such can be replicated.  In what I believe is referred to as translocative Down syndrome the fusing of the extra part of the twenty-first chromosome means that the defect can now be carried on through the generations, being essentially heritable.  In just this one, relatively simple case I think it becomes relatively clear that genetic disorders can be extremely complicated and by no means are the curing of them as simple as turning a gene on or off like a light switch.


One important aspect of discussing genetic conditions is this idea of how to cure them.  Although biotechnology has made many promises and is indeed a very promising field to be involved in, the vast majority of common genetic conditions or diseases at this point are not curable.  In fact, for most people who are born with genetic conditions the only way to really treat the disease is to treat the difficulties, often developmental, caused by the disease.  This often includes a number of therapies, psychological, physical and at times social in addition to potential medication regimes that might be necessary in order to cope with some of the results of the genetic disorder in question.  As the future of health care continues I suspect that we will increasingly here not only of the difficulties in treating genetic disorders, but also in a positive sense of some of the potential successes that may occur as we learn more and more about not only the way diseases work in the body, but how the body works at all.  There are many resources available with regard to specific genetic disorders; however, I hope that in some way this general overview has been a helpful way of framing this topic and perhaps suggesting some of the areas that someone with an interest in genetic disorders might further explore.