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Modern genetics is the science of how biological information encoded in genomes specifies its traits and how this information is shaped and transmitted across the generations. Human genetics focuses on the nature of this
information in outbred organisms like ourselves and how this information is altered and compromised in human disease.


The Aravinda Chakravarti Laboratory focuses on the development and applications of genetic, genomic, and computational technologies and perspectives for gene discovery in a variety of complex human diseases. Our goal is to assess how genomic information can be used in modern clinical medicine in the era of personalized medicine. Specifically, we use a variety of disease models to infer the features of complex disease gene architecture in two developmental disorders of neuronal function (Hirschsprung disease, autism) and two late age-at-onset cardiovascular disorders (hypertension, sudden cardiac death).


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 and 1000Genomes Project) and emerging genome-wide maps of functional elements (The ENCODE Project) are all critical elements of this genetic dissection. In particular, we are developing a paradigm for the genetics of common disease.

 

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Aravinda Chakravarti’s Lab

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