Laminopathies are genetic diseases that encompass a wide spectrum of phenotypes with diverse tissue pathologies and result mainly from mutations in the LMNA gene encoding nuclear lamin A/C. To date, at least 9 differe...Laminopathies are genetic diseases that encompass a wide spectrum of phenotypes with diverse tissue pathologies and result mainly from mutations in the LMNA gene encoding nuclear lamin A/C. To date, at least 9 different human diseases, which superficially seem to share little with one another, result from LMNA mutations. The position of the mutation within LMNA appears to be associated with the phenotypes. This review gives an overview of genotype-phenotype relationship and describes recent advances in animal models and pathogenic mechanisms.展开更多
Since the sequencing of the human genome was announced in 2001, researchers have an increased ability to discern the genetic basis for diseases. This reference genome has opened the door to translational medicine whic...Since the sequencing of the human genome was announced in 2001, researchers have an increased ability to discern the genetic basis for diseases. This reference genome has opened the door to translational medicine which may be defined as the use of data acquisition and analysis to improve medical care, including prognostics, diagnostics, preventive intervention, therapeutic selection, and individualized treatment based on the complex interaction between inherited and acquired elements of human variation. It is an approach that will build on the comprehensive nature of the genome sciences. It aims at detecting and understanding of all genetic variations of the human genome that contribute to the manifestation and progression of disease.It is clear that what is really new in genomic medicine is the application of genomic technology on a large scale to virtually every problem of medicine. Genomic medicine goes well beyond the traditional boundaries of genetics in medicine. As a clinical paradigm, translational medicine provided global, comprehensive, and multidimensional treatment and management strategies based on the science emerging from the study of genomics and genetics of human diseases. Translational medicine will have a transformative role in healthcare, whose emphasis can be anticipated to dramatically shift from disease treatment to health maintenance.展开更多
文摘Laminopathies are genetic diseases that encompass a wide spectrum of phenotypes with diverse tissue pathologies and result mainly from mutations in the LMNA gene encoding nuclear lamin A/C. To date, at least 9 different human diseases, which superficially seem to share little with one another, result from LMNA mutations. The position of the mutation within LMNA appears to be associated with the phenotypes. This review gives an overview of genotype-phenotype relationship and describes recent advances in animal models and pathogenic mechanisms.
文摘Since the sequencing of the human genome was announced in 2001, researchers have an increased ability to discern the genetic basis for diseases. This reference genome has opened the door to translational medicine which may be defined as the use of data acquisition and analysis to improve medical care, including prognostics, diagnostics, preventive intervention, therapeutic selection, and individualized treatment based on the complex interaction between inherited and acquired elements of human variation. It is an approach that will build on the comprehensive nature of the genome sciences. It aims at detecting and understanding of all genetic variations of the human genome that contribute to the manifestation and progression of disease.It is clear that what is really new in genomic medicine is the application of genomic technology on a large scale to virtually every problem of medicine. Genomic medicine goes well beyond the traditional boundaries of genetics in medicine. As a clinical paradigm, translational medicine provided global, comprehensive, and multidimensional treatment and management strategies based on the science emerging from the study of genomics and genetics of human diseases. Translational medicine will have a transformative role in healthcare, whose emphasis can be anticipated to dramatically shift from disease treatment to health maintenance.
