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The Year in Human and Medical Genetics
John Wiley and Sons Ltd, March 2011, Pages: 252
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
- Obesity
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