The Ciliopathies - A functional and therapeutic investigation

The ciliopathies are a rare class of human genetic disorder caused by dysfunction of the primary cilium in development and adulthood. This work investigates several novel elements of these diseases. Using advanced image analysis, facial dysmorphology in patients with ciliopathies is characterised and modelled in zebrafish. This uncovers a new role for ciliopathy proteins in cell migration, and furthermore in Sonic Hedgehog signalling. The zebrafish is used to model the renal component of ciliopathies and a therapeutic assay is developed to test the efficacy of drugs to treat renal cysts. Together, these findings have contributed to the diagnosis and potential treatments for ciliopathies.

About the author

El Dr. Jonathan Tobin estudió Biología en la Universidad de Oxford. Realizó su investigación de doctorado en el laboratorio del profesor Phil Beales en el Instituto de Salud Infantil de la UCL. Durante su doctorado, Jonathan aplicó sus conocimientos de biología del desarrollo para diseccionar la función de las proteínas de las ciliopatías, una clase de proteínas implicadas en nuevos trastornos humanos.

Product details

• Authors: Jonathan Tobin
• Publisher: LAP Lambert Academic Publishing
• Languages: English, German
• Product format: Paperback / Softback
• Released: 01.01.2010
• EAN: 9783838341071
• ISBN: 978-3-8383-4107-1
• No. of pages: 272
• Dimensions: 150 mm x 220 mm x 14 mm
• Weight: 380 g
• Subject: Natural sciences, medicine, IT, technology > Biology > Genetics, genetic engineering