The study of the human genome and the relevance of genetic variation to human health and disease is a field of rapid growth and progress, but also increasing complexity. The 20th-century genetic advancements began in 1961 when Marshall Nirenberg first deciphered the genetic code, identifying the first triplet codon (a sequence of three nucleotides that together form a unit of genetic code) in RNA and its relation to the amino acid uracil. The complete codon sequence for all 20 amino acids followed quickly, culminating in a Nobel Prize for Nirenberg in 1968.

The first genetic disorder to be mapped was Huntington’s disease in 1983, followed by cystic fibrosis in 1989. The Human Genome Project, one of the boldest scientific endeavors, began in 1990 and was completed ...

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