1. ¹Stowers Institute for Medical Research, Kansas City, MO, USA
2. ²University of Kansas School of Medicine, Kansas City, KS, USA
3. ³Faculty of Medical and Human Sciences, University of Manchester, Manchester, England
4. ⁴Faculties of Life Sciences and Medical and Human Sciences, University of Manchester, Manchester, England

Correspondence: Dr PA Trainor, Stowers Institute for Medical Research, 1000 E. 50th Street, Kansas City, MO 64110, USA. Tel: +1 816 926 4414; Fax: +1 816 926 2051; E-mail: pat@stowers-institute.org

Received 29 May 2008; Revised 28 August 2008; Accepted 1 October 2008; Published online 24 December 2008.

Abstract

Treacher Collins syndrome (TCS) is a rare congenital disorder of craniofacial development that arises as the result of mutations in the TCOF1 gene, which encodes a nucleolar phosphoprotein known as Treacle. Individuals diagnosed with TCS frequently undergo multiple reconstructive surgeries, which are rarely fully corrective. Identifying potential avenues for rescue and/or repair of TCS depends on a profound appreciation of the etiology and pathogenesis of the syndrome. Recent research using animal models has not only determined the cellular basis of TCS but also, more importantly, unveiled a successful avenue for therapeutic intervention and prevention of the craniofacial anomalies observed in TCS.