Single gene disorders or complex traits: lessons from the thalassaemias and other monogenic diseases.

摘要: Based on a presentation from the Millennium Festival of Medicine As result revolution in biological sciences following development recombinant DNA technology and sequencing most human genome, role genetics pathogenesis disease now dominates biomedical research. There is every sign that rapidly evolving post genome era will unravel function explain how 50 000 to 100 genes interact with one another environment make us what we are. The central question for medical extent which it be possible relate events at molecular level clinical findings or phenotypes patients particular diseases. This problem permeate aspect research practice future. It dominate predictive genetic counselling. also major importance decision making as new novel approaches treatment become available, particularly those involving manipulation. Further exploration may provide information some common killers Western society, such heart disease, stroke, diabetes, psychiatric leading form pharmacology drugs are tailored an individual's up. Even more important, certainly complex, relating genotype phenotype. Many our important diseases almost reflect varying susceptibility, due action many different wide variety environmental factors ill understood biology ageing. Is there any way guessing likely levels complexity encountered basis explored technology? Theoretically, monogenic …