title: Understanding rare disease pathogenesis: a grand challenge for model organisms.
abstract: 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.
authors.affiliation: Michael Smith Laboratories, University of British Columbia, 2185 East Mall, Vancouver, BC, Canada V6T 1Z4 hieter@msl.ubc.ca.
authors.forename: Philip
authors.initials: P
authors.lastname: Hieter
authors.affiliation: Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada K1H 8L1.
authors.forename: Kym M
authors.initials: KM
authors.lastname: Boycott
mesh_terms: D000818:Animals; D005260:Female; D006801:Humans; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D012269:Ribosomal Proteins / Q000235:genetics*
chemical_list: D012269:Ribosomal Proteins