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个人简介
My laboratory focuses on the development and applications of molecular genetic, genomic and computational methods for identification of human disease genes through “genetic dissection”. We use a variety of disease models to infer the features of complex disease gene architecture in birth defects (Hirschsprung disease), cardiovascular disorders (hypertension, sudden cardiac death) and mental illness (autism, bipolar disease, schizophrenia).
Common human diseases, be they birth defects, diabetes, cardiovascular disease, infectious disease, psychiatric illness or neurodegenerative disease, are familial and arise from a combination of genetic and environmental factors. The familial nature of most diseases suggests an underlying genetic susceptibility, but environmental, stochastic and epigenetic factors are also critical. Additional genetic hallmarks of complex disorders are that the underlying mutations are neither necessary nor sufficient for the development of disease, and that these mutations are common in the general population. Contemporary genomic methods and perspectives, using the human genomic sequence, comparative sequence from many other vertebrates, a genome-wide map of polymorphic sites (The International HapMap Project) are all critical elements of this genetic dissection. In particular, we are developing a paradigm for the genetics of common mutations.
Common human diseases, be they birth defects, diabetes, cardiovascular disease, infectious disease, psychiatric illness or neurodegenerative disease, are familial and arise from a combination of genetic and environmental factors. The familial nature of most diseases suggests an underlying genetic susceptibility, but environmental, stochastic and epigenetic factors are also critical. Additional genetic hallmarks of complex disorders are that the underlying mutations are neither necessary nor sufficient for the development of disease, and that these mutations are common in the general population. Contemporary genomic methods and perspectives, using the human genomic sequence, comparative sequence from many other vertebrates, a genome-wide map of polymorphic sites (The International HapMap Project) are all critical elements of this genetic dissection. In particular, we are developing a paradigm for the genetics of common mutations.
研究兴趣
论文共 736 篇作者统计合作学者相似作者
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Hypertension (Dallas, Tex. : 1979) (2024)
JOURNAL OF INFECTIOUS DISEASES (2024)
crossref(2023)
crossref(2023)
crossref(2023)
crossref(2023)
medRxiv (Cold Spring Harbor Laboratory) (2023)
PLOS GENETICSno. 11 (2023)
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