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Special Millennium Article
January 2000

The Brain Code in Health and Disease

Arch Neurol. 2000;57(1):50-51. doi:10.1001/archneur.57.1.50

The 21st century will be the time to complete the sequencing of the human genome. The Human Genome Project has as its goal the complete nucleotide sequencing of all 3 billion nucleotides in the human haplotype by the year 2003. Preliminary restriction fragment sequences of the human genome have already been published, and single nucleotide polymorphisms linked to human characteristics and diseases will be studied intensively. It is estimated that about 100,000 to 140,000 genes are actively being transcribed in the adult neuron. Cell structures, neurotransmitters, and trophic, adhesion, and regulatory molecules that are known and function in the central nervous system will have the molecular details of their genes identified and clarified. At present, we have identified about 2000 structural and regulatory genes that are active within the central nervous system. There are approximately 5000 genetic diseases that we know of, but detailed gene sequence information is available for fewer than 1000 of them. Thus, there are 100,000 plus genes about which we have little or no information that actively contribute to brain function and neurological disease. We still have 98% of the way to go to gain meaningful insight into the genetic expression of human brain genes, and that is a humbling statistic, indeed! However, we know that although molecular and genetic neurology is still in its infancy, it will ultimately provide the greatest area of development in our understanding and treatment of the major neurological diseases, including Alzheimer disease and related dementias, cerebrovascular disease and stroke, brain prematurity at birth, genetic neurological diseases, brain tumors, neural excitotoxicity and oxidant injury disease, the epilepsies, parkinsonism, involuntary movement disorders, cerebellar degenerations, multiple sclerosis, and Creutzfeld-Jakob disease. Also, the molecular and cellular basis of consciousness, cognition, and language will become evident only through the elucidation of neuron-glial gene regulation and expression.1

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