What does “mapping the genome” mean?

First, A Bit of Background on What Makes up the Genome

• A “genome” is an organism’s complete set of genes and underlying DNA
• DNA molecules are double helix organized stands of base pairs that contain the underlying code for making proteins. The base pairs are made up of A, C, G, T.
• “Genes” are varying lengths of DNA that code for a specific protein
• Proteins are the building blocks for muscles and tissues and also make enzymes. Enzymes are complex proteins that control and carry out nearly all chemical processes and reactions within the body. The body produces thousands of different enzymes. Thus, the entire structure and function of the body is governed by the types and amounts of proteins the body synthesizes.
• Each human has 23 pairs of chromosomes and each chromosome contains hundreds to thousands of genes.

Whew!  Here’s a helpful picture:

The Human Genome Project

The HGP was a government funded research project that started in 1990 and was completed in 2003. The work was undertaken by twenty universities and the goal and result of the HGP was to map the human genome. This means every gene and underlying base pair of the underlying DNA is identified and cataloged. The original mapping was performed on anonymous donor DNA. The HGP cost about $3 Billion. Among the main goals of the HGP was to develop new, better and cheaper tools to identify new genes and to understand their function.

Some Facts

• The human genome has 3 billion base pairs (the A, T, C and Gs)
• there are 20,300 genes
• 99.9% of people’s genes are identical. It’s in that last 0.01% where we find all of human variation — those things that make us special
• Mapping the first genome cost $3 Billion
• The cost of genome mapping is now down to about $1,000 and is expected to drop below $100 over the next few years
• A fully mapped genome takes about 24 terabytes of data to store
• If a single computer was used to map a human genome it would take about 11 years. Use of cloud computing has reduced that time to a few days. A leading genome sequencing firm uses 1% of the Amazon Cloud Computing’s capacity.

What Does It Mean?

The genome is mapped, but we’re still in the early stages of figuring out what all the genes (and combinations of genes) actually do. What we are discovering is which genes are responsible for which traits and, importantly, which genetic influenced diseases.

A hopeful outcome is that of precision medicine. The idea is that you would have your genome mapped and then specific treatments and drugs could be formulated for you specifically. For example, your specific mental illness would be treated with a custom drug specific to your exact physiology rather than the scattershot way psychiatric drugs are used now.

A future IFOD will hit on epigentics as well as gene-editing thru the use of CRISPR.