The latest edition of The Year in Human and Medical Genetics explores new trends
in Mendelian genetics. While Mendelian genetics is often seen as an out-dated
discipline of interest to rare patients and few scholars, there have been many
ground-breaking discoveries have been made in Mendelian genetics in the last
decade. Single-gene defects of known Mendelian phenotypes have been deciphered,
and novel diagnostic and therapeutic means have been devised, thanks to these
studies. Moreover, novel phenotypes have been explored from a Mendelian angle,
including common phenotypes.
This volume captures the most important topics in Mendelian genetics through thought-provoking reviews that highlight the importance of classical Mendelian phenotypes and, when applicable, that challenge the "rare disease-rare variant/common disease-common variant" theme so common today.
Featured topics include: deafness, infectious diseases, kidney diseases, CNS development, autoimmunity, population genetics and Mendelian traits, heart disorders, and obesity.