Medical Genetics

Although clinical aspects of medical genetics occupy the core of interest of physicians taking care of patients with genetic disorders, sound knowledge of basic aspects of human genetics, which represent the actual source of all information related to their work, is necessary for optimizing their practical skills. Unfortunately, a wide gap exists between clinical geneticists and required proper awareness of the spectrum of different fields of basic genetics. A situation like this might not hinder or affect the quality of medical service offered to patients, but it surely delays significant therapeutic and/or prophylactic achievements that could be attained by clinical geneticists familiar with basic genetics. Although the human genome project is proceeding steadily towards full structural characterization of the human genome, absence of a parallel functional genome project represents a real challenge and constitutes a major obstacle to attain full functional characterization of the different components of the genome. Complete functional characterization of the genome is a prerequisite step necessary for complementing our current knowledge in different fields of medical genetics since genetic disorders are caused, primarily, by defective function(s) of genes following alteration(s) in their structure. Mohammad Saad Zaghloul Salem, Medical Genetics: Problems and Approaches.

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Last date updated on April, 2024