New research takes a step closer to understanding human genetics

In recent years, research into human genetics has been pivotal in gaining a more complete understanding of all areas of our health.

If we can unlock the secrets held in our genetic blueprint, we can figure out what happens in many diseases and in each person's body. This would allow the creation of tailor made treatments with increased effectiveness and fewer side effects than those available today.

With this long term goal in mind, scientists have been working for several years to map the human genome. The Human Genome Project completed sequencing human DNA in 2003, a major achievement, but only the first step in the quest to understand how it all works.

New findings published last month in Nature and Genome Research are changing our understanding of human genetics.

Until now, we have primarily examined the genes that code for proteins, and proteins are the functional building blocks making up every cell in the human body.

Great strides have been made toward identifying these genes, but protein-coding genes account for only a small fraction of the human genome and evidence exists that other parts of the genome also have important functions.

What this collaborative study has done is to begin to identify all functional elements in the genome and to learn where they are located and how they are organized.

As shown in these published results, the genome is a complex network in which genes, regulatory elements and other types of DNA interact and overlap in ways we do not yet fully understand.

This new information challenges the long held view that our genome includes a small number of functional genes along with a lot of DNA that is not biologically active. In this study, researchers found very little that was not functional.

Scientists from 80 organizations around the world worked together on the ENCODE project to list all biologically functional elements in one percent of the human genome, focusing on 44 targets made up of about 30 million DNA base pairs.

This exhaustive four year process was designed to test the feasibility of launching a much more ambitious goal to produce a comprehensive catalog of functional components in the entire human genome.

It is amazing how much was learned from only one percent of the genome. This work will cause the scientific community to rethink many aspects of what genes are and what they do as well as the evolution of functional elements within the genome.

As research continues into the remainder of the human genome there will be more and more significant implications for the future of medicine and the efforts to identify the genetic make-up of many human diseases.


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