Genes, coded in DNA, carry our hereditary information. Today, these insights are leading to diagnoses and treatments of genetic diseases.

According to the National Human Genome Research Institute, National Institutes of Health, “We will soon know the sequence of all human genes. However, the identification and evaluation of human gene variants important to health has not kept pace. Likewise, our ability to deduce the function of novel genes remains limited.”

Genetic research has established that perturbations of the metabolic pathways involving organic substances can account for a large fraction of defects in humans, such as neural tube defects. The genes making up these metabolic pathways are logical candidates for putative targeted genes.

Genetic researchers are currently scrambling to identify human genetic variants in genes comprising these metabolic pathways. There are one hundred trillion cells in an adult body, which include bacterial cells that possess their own genomes. To store this raw information in our cells would require 30 trillion CD's.

Changes in the bases of a gene are known as mutations, which cause genetic diseases. Mutations in genetic code occur as relatively minor changes with major health results, such as the single-base substitution in sickle cell anemia.