Annals

The Year in Human and Medical Genetics: New Trends in Mendelian Genetics

Edited by Edited by Jean-Laurent Casanova (Laboratory of Human Genetics of Infectious Diseases, Rockefeller University, New York, New York), Laurent Abel (University of Paris René Descartes, Necker Medical School, Paris, France), and Stanislas Lyonnet (Hôpital Necker Enfants Malades, Paris, France)
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The Year in Human and Medical Genetics: New Trends in Mendelian Genetics

Published: December 2010

Volume 1214

Reviews on some of the many ground-breaking discoveries made in Mendelian human genetics in the last decade.
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This edition of The Year in Human and Medical Genetics focuses on new trends in Mendelian genetics because the current trend in human genetics is overwhelmingly not on Mendelian genetics, which is often seen as an out-dated discipline. 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. Some of the most important topics in Mendelian genetics are covered in 17 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 prevalent today.