Understanding the experiences of families living with survivors of liver cancer

Poster Presentation: no. P098

Caring for Carers: Spiritual Transformation from Grief to Celebration of Life.

Conference Theme: Nurturing Partnership in Hospice Car

A system for distributed intrusion detection

The study of providing security in computer networks is a rapidly growing area of interest because the network is the medium over which most attacks or intrusions on computer systems are launched. One approach to solv-ing this problem is the intrusion-detection concept, whose basic premise is that not only abandoning the existing and huge infrastructure of possibly-insecure computer and network systems is impossible, but also replacing them by totally-secure systems may not be feasible or cost effective

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

© 2015 Macmillan Publishers Limited. Defects in primary cilium biogenesis underlie the ciliopathies, a growing group of genetic disorders. We describe a whole-genome siRNA-based reverse genetics screen for defects in biogenesis and/or maintenance of the primary cilium, obtaining a global resource. We identify 112 candidate ciliogenesis and ciliopathy genes, including 44 components of the ubiquitin-proteasome system, 12 G-protein-coupled receptors, and 3 pre-mRNA processing factors (PRPF6, PRPF8 and PRPF31) mutated in autosomal dominant retinitis pigmentosa. The PRPFs localize to the connecting cilium, and PRPF8- and PRPF31-mutated cells have ciliary defects. Combining the screen with exome sequencing data identified recessive mutations in PIBF1, also known as CEP90, and C21orf2, also known as LRRC76, as causes of the ciliopathies Joubert and Jeune syndromes. Biochemical approaches place C21orf2 within key ciliopathy-associated protein modules, offering an explanation for the skeletal and retinal involvement observed in individuals with C21orf2 variants. Our global, unbiased approaches provide insights into ciliogenesis complexity and identify roles for unanticipated pathways in human genetic disease