International Society for Therapeutic Ultrasound Conference 2016

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

Item does not contain fulltext 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 sequen…

5th International Symposium on Focused Ultrasound

Introduction Breast fibroadenomata (FAD) are benign lesions which occur in about 10 % of all women. Diagnosis is made by triple assessment (physical examination, imaging and/or histopathology/cytology). For a definitive diagnosis of FAD, the treatment is conservative unless the patient is symptomatic. For symptomatic patients, the lumps can be surgically excised or removed interventionally by vacuum-assisted mammotomy (VAM). Ablative techniques like high-intensity focused ultrasound (HIFU), cryo-ablation and laser ablation have also been used for the treatment of FAD, providing a minimally invasive treatment without scarring or poor cosmesis. This review summarises current trials using mini…