Relevance of the Human Genome Project to inherited metabolic disease.
The Human Genome Project is an international effort to identify the complete structure of the human genome. HUGO, the Human Genome Organization, facilitates international cooperation and exchange of information while the Genome Data Base will act as the on-line information retrieval and storage system for the huge amount of information being accumulated. The clinical register MIM (Mendelian Inheritance in Man) established by Victor McKusick is now an on-line resource that will allow biochemists working with inborn errors of metabolism to access the rapidly expanding body of knowledge. Biochemical and molecular genetics are complementary and should draw together to find solutions to the academic and clinical problems posed by inborn errors of metabolism.
University of Newcastle upon Tyne, Division of Human Genetics, UK.
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D030342:Genetic Diseases, Inborn / Q000175:diagnosis / Q000235:genetics*; D005820:Genetic Testing; D016045:Human Genome Project; D006801:Humans; D007256:Information Systems; D012958:Societies, Scientific