Emerging tools for dissecting complex disease.

作者: Ulf D. Landegren

DOI: 10.1007/3-7643-7419-5_8

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摘要: Like the proverbial elephant being felt by a group of blind men, human diseases are perceived differently depending on how investigating scientists able to study them. Through years notions alterations body humors; autotoxicity/autoimmunity; influences environment, upbringing or diet; psychosomatics; infectious agents; genetic factors have all taken turn dominating thinking about origin diseases, available research technologies. In recent seductive example linkage analysis monogenic disease, combined with availability total genome sequence information, motivated search for also in complex where many genes may contribute predisposition, along range nonheritable factors. The comprehensive lists and variants, as well proteins their high-throughput approaches them extensive collections biobanked patient samples model organisms, should over coming yield profound insights disease aetiologies whether genetic, infectious, otherwise. This can be justifiably expected enable earlier, even presymptomatic diagnosis, molecularly directed therapies, improved follow up. Also without real understanding molecular mechanisms underlying ability identify diagnostic patterns before organ damage occurs, distinguish phenocopies current entities that require distinct promises improve treatment maybe allow avoided outright. this chapter I will briefly discuss some modalities analysis, describing tools developed our lab research, diagnostics, monitoring disease.

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