The Year in Human and Medical Genetics

Jean-Laurent Casanova is the editor of The Year in Human and Medical Genetics: New Trends in Mendelian Genetics, Volume 1214, published by Wiley. Laurent Abel is the editor of The Year in Human and Medical Genetics: New Trends in Mendelian Genetics, Volume 1214, published by Wiley.

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.
 
NOTE: Annals volumes are available for sale as individual books or as a journal. For information on institutional journal subscriptions, please click here.
 
ACADEMY MEMBERS: Please contact the New York Academy of Sciences directly to place your order (nyas.org). Members of the New York Academy of Science receive full-text access to the Annals online and discounts on print volumes. Please visit nyas.org/MemberCenter/Join.aspx for more information about becoming a member.

The latest edition of The Year in Human and Medical Genetics is focused on exploring new trends in Mendelian genetics. WhileMendelian genetics is often seen as an out-dated discipline ofinterest to rare patients and few scholars, there have been manyground-breaking discoveries have been made in Mendelian genetics inthe last decade.