The Human Genome Project: One small step for man… one giant mystery left for mankind.

As we enter the new-year, we are now approaching the 12th anniversary of the completion of the Human Genome Project. Back in 2000 the implications to achieving such a feat seemed endless. If we now know the very pieces of information that work as the blue print for the creation of every single detail of our minds and bodies, then how could there be any confusion or misunderstandings about the human body ever again? Yet with nearly twelve research filled years under the genetic science community’s belt, what exactly has been accomplished?

Well, for one thing we now know more about how particular populations have adapted to different environments. For example, it’s now understood lactose tolerance in adults (the ability to digest the sugar lactose commonly found in milk products) is caused by a single nucleotide mutation (one letter change). We also know the percentage of our DNA that matches other organisms, and apparently we’re not as different from fruit flies as we had all hoped. But what does this information do for us, other than add more information to every Biology text book, enlarge the pool for possible trivial pursuit questions, and give that one overly knowledgeable relative more fun facts to share over the dinner table?

I am really not trying to undermine the information that has been discovered so far. I just cannot help but feel a little disappointed at how a project meant to expand how much more we know only ended up expanding how much more we still don’t know. At the project’s completion, it seemed that everyone felt as though a cure to genetic diseases like Tay Sachs, Cystic Fibrosis, and Huntingtons were just around the corner. In actuality, all that has really been found are the causes for these diseases as scientists located the gene mutations that coded for the incorrect proteins that led to a patient’s symptoms.

While that sounds like a great start, sadly fixing the problem is far more complex than finding it. Going directly to the DNA and altering the mistake seems to currently be impossible and manufacturing the correct protein to replace the faulty one may be almost as difficult since every protein has its own individual and very complex folded structure. To add to the complications, most diseases, unlike Tay Sachs and Cystic Fibrosis, are not simply located on one gene, but are in fact found on hundreds of different sites not all of which are even gene coding regions. Thus, after twelve years, the medical improvements have fallen short of expectations. The simple answers that were supposed to be found in those painstakingly discovered letters are in fact just the beginnings of new mysteries, problems, and questions. It seems greatest piece of information gleaned from the Human Genome project was that we still have a long way to go.

-Negative Nancy


~ by rebeccalhunt on January 13, 2012.

One Response to “The Human Genome Project: One small step for man… one giant mystery left for mankind.”

  1. Determining the entire sequence of the human genome was only the first step to understanding how the genetics mechanism works and under what conditions. For example, one region of DNA can provide code for several different genes depending on other certain regulators and other influences. The next step is to understand what regulatory factors cause particular genes to express. What is the result of gene expression and how some genes influence others?

    Proteomics also plays an important role. Protein production is the eventual result of expressed genes and these same proteins could go on to influence yet another set of genes.

    Your article is correct stating that sequencing the human genome has presented new mysteries. However, the same research has opened new avenues that will help understand this intricate web involved in genetics and genetic diseases. The desire to understand genomics and proteomics has lead to development of powerful technologies that will aid understanding of gene expression and genetic diseases. Next-generation sequencing, improvements to Sanger sequencing, real time PCR and chip arrays will all help advance the science and eventually lead to solving certain genetic diseases.

    The sequence of the human genome was completed well before scheduled. It is possible that a better understanding of the genome will also advance sooner.

    Doug B.

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