Wisdom Wednesday: Human Genome Project

In 1953, James Watson and Francis Crick described the double helix structure of deoxyribonucleic acid (DNA), the chemical compound that contains the genetic instructions for building, running and maintaining living organisms.

Methods to determine the sequence of the chemical letters in DNA were developed in the mid-1970s.

In 1990, the National Institutes of Health (NIH) and the Department of Energy jointed with international partners in a quest to sequence all 3 billion letters, or base pairs, in the human genome.

The Human Genome Project’s goal was to understand the genetic factors in human disease, paving the way for new strategies for their diagnosis, treatment and prevention.

All data generated by the project was made freely and rapidly available on the Internet. This accelerated the pace of medical discovery around the world. It spurred a revolution in biotechnology innovation and made the U.S. the global leader in the arising biotechnology sector.

In April of 2003, researchers successfully completed the Human Genome Project, under budget and more than two years ahead of schedule.

Today over 1,800 genetic diseases have been discovered. There are more than 2,000 genetic tests for human conditions that enable patients to learn their genetic risks and help physicians diagnose disease. At least 350 biotech products have been developed and are in clinical trials.



However, having completed the complete sequence of genes is just the first step. It is analogous to having a manual to make a human without knowing how to read it. The challenge is to now determine how these many, complex parts work together in human health and disease.

My Take:
Frankly, the scientists involved in this vast undertaking were initially disappointed that mapping the human genome did not provide the answers to questions on human health and disease. Still, it was a massive project that created a base of knowledge and a global research community. If only politicians could work together like this, much of the world’s problems could be easily solved.

The results are limited because genetic structure just provides potential. It is gene expression that contains the answers we are looking for. We all have two sets of genes for every gene expression – one from mom and one from dad. This provides the body with choice and variety.

For example, the MTHFR gene (methylenetetrahydrofolate reductase) provides instructions to reduce folic acid found in food to methyl folate, the form the body uses. Variations in this genetic snippet are found in about a third of the population. The variant limits or prevents this conversion. However, in most cases you inherit the variant from just one parent. The body can still convert folic acid to methyl folate if it chooses the correct gene – gene expression.

The Bottom Line:
Although mapping the human genome was a massive and vital project, understanding gene expression is the real key. Next week I will introduce the Human Microbiome Project and we will see what role microbes have in this process.