IMB Seminar Series - Associate Professor Carol Wicking - Ciliopathies - from genetic diagnosis to gene function

Event Details

Date:

Friday, 20 October 2017

Time:

12:30 pm - 1:30 pm

Room:

Queensland Bioscience Precinct Auditorium - Building 80, The University of Queensland

UQ Location:

Queensland Bioscience Precinct (St Lucia)

URL:

http://events.imb.uq.edu.au

Event category(s):

Full Description:: Ciliopathies are rare inherited disorders resulting from dysfunction of the primary cilium, a cellular organelle that extends from the surface of most quiescent vertebrate cells. Through collaborative efforts we have identified novel genetic causes of a number of these disorders and used cell and animal models to explore gene function. While much of our work has focused on a subclass of ciliopathies characterised by skeletal dysplasia, we have recently identified a novel locus for autosomal recessive polycystic kidney disease (ARPKD).

Until recently ARPKD was thought to be a homogeneous disease resulting exclusively from mutations in the PKHD1 gene, whose protein product is thought to interact with other PKD proteins at the primary cilium. Through next generation sequencing of patients with no identified mutations in known PKD genes, DZIP1L was identified as a second causative gene for ARPKD. Using mouse, zebrafish and cell-based models we have begun to unravel the role of DZIP1L in cilia function and to extend our understanding of the underlying mechanism of PKD.