Author Description

In most demographic, ethnic, or cultural groups, certain inherited diseases occur more frequently than in other groups or in the general population. Such is the case for the Jewish people, as specific "Jewish genetic diseases" occur in each of the Jewish subgroups, the Ashkenazim, the Sephardim, and the oriental Jews. These diseases have been the subject of intense investigation for decades and have served as the paradigms for various principles of clinical, population, and biochemical genetics. Recent advances in understanding these diseases have resulted from the application of modern molecular and cellular techniques to isolate the respective disease genes, characterize their mutant alleles, and generate murine models, and to use this information to investigate disease pathogenesis, improve diagnosis and screening, and provide recombinant proteins and genes for therapeutic endeavors. It is these recent molecular and cellular advances that are the focus of this book. The book has four sections: demography and population genetics, disorders prevalent among Ashkenazim, disorders prevalent among Sephardim and oriental Jews. With emphasis on the molecular characterization of disease alleles, it should be of equal interest to population geneticists and clinical geneticists.