The Omics Blog by Dr. James Weiss – Introduction
Medicine has entered a new paradigm. It started, in my opinion, in 2003 with the completion of the Human Genome Project and the publication of a paper by Waterland and Jirtle in the Journal of Molecular and Cell Biology (Aug. 2003, p. 5293 – 5300). Upon completion of the Human Genome Project the entire sequence of our entire human DNA was known. Waterland and Jirtle’s work showed that genes can be turned on or off by the effects of the environment in which an animal finds itself. In medical school I was taught that one’s genes determine health, either good or bad, and that nothing can be done to alter that fate. This has been proven to be wrong.
It has now been over a decade since the publication of these two landmark studies and the progress that has been made in this field is remarkable. Based on the work done over this time, we can begin to see what potential the future holds for preventing and treating disease. Knowing where we are and where we can go makes one realize that we have only taken baby steps on this journey.
Humans have 23 pairs of chromosomes. We received one copy of each pair of our chromosomes from our mother and one from our father. Taken together they are made up of 3 billion base pairs of nucleic acids. Stretched end-to-end our DNA would measure approximately 2 meters. All of this information is packed into the nucleus of every single cell. In humans, our DNA has about 20,000 genes that code for proteins. These proteins make us who and what we are and do the work of our bodies. This portion of our genes is called our ‘exome’ and makes up only about 1.5% of our DNA. The other 98.5% of our DNA, formerly called junk DNA, is now being studied. We are beginning to understand the vital roles this portion of the DNA serves. Some experts believe, for example, that this portion is ultimately responsible for what separates us from our closest relative in the animal kingdom, the chimps.
One challenge being actively investigated is how all of this knowledge can be applied clinically in medicine. This series of blogs will highlight my understanding of this science and attempts to apply this to the benefit my patients, in an ethical, compassionate and meaningful way.
To date there have been primarily three areas in which therapy based on understanding a patient’s genes has been brought to the bedside: the “diagnostic odyssey,” where the rare child has an undiagnosable chronic condition; in the field of pharmacology; and in the treatment of cancer. For me, the ‘holy grail’ will be how these emerging sciences can be applied to prevent and treat the chronic illnesses that affect so many adults. The day when doctors can apply this knowledge in real time to the treatment of their patients is nearly here. We will certainly see this within the next 5 – 20 years. We are entering the era of the right treatment for the right person at the right time and probably more importantly the era of true disease prevention. Some call this “Personalized Medicine” and some call it “Individualized Medicine.” Whatever you call it, it is very exciting so join me in this journey.
Read Part II here.
Read Part III here.