Open AccessUnderstanding Rare Disease Pathogenesis: A Grand Challenge for Model Organisms
Author(s) -
Philip Hieter,
Kym M. Boycott
Publication year - 2014
Publication title -
genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.792
H-Index - 246
eISSN - 1943-2631
pISSN - 0016-6731
DOI - 10.1534/genetics.114.170217
Subject(s) - biology , genetics , pathogenesis , disease , evolutionary biology , immunology , pathology , medicine
In this commentary, Philip Hieter and Kym Boycott discuss the importance of model organisms for understanding pathogenesis of rare human genetic diseases, and highlight the work of Brooks et al., "Dysfunction of 60S ribosomal protein L10 (RPL10) disrupts neurodevelopment and causes X-linked microcephaly in humans," published in this issue of GENETICS.
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