[Perspectives on postgenome medicine: Inborn error of metabolism].
The news that human DNA structure will be completely analyzed in very near future does not mean the whole human genomes being clarified including own function and interaction between each gene. Concerning the diseases of inborn error of metabolism, we should clarify the implication of mutant gene, especially on non-cording regions, and genotype and phenotype relationship in each disease. Additional factors producing different phenotypes, even the same mutant gene being involved, such as environmental factors, modifier genes and SNPs in the affected gene are also the project of further discussion. Such information will be most useful for genetic counseling, and treatment and prevention of the diseases. New drugs designed by unique idea, gene therapy and therapy using hES cells should be developed for clinical practice, and for this purpose, fundamental research is indispensable.
Matsuda
I
I
Ezu Institution of Developmental Disabilities.
D005817:Genetic Counseling; D015316:Genetic Therapy; D005838:Genotype; D018380:Hematopoietic Stem Cell Transplantation; D016045:Human Genome Project; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000235:genetics* / Q000628:therapy; D009154:Mutation; D010641:Phenotype