Seminar details

June 13, 2019, 4:00 pm @ Small Lecture Theatre

Professor Philip Beales, UCL, London, UK

Host: Angus Lamond


The ciliopathies are a collection of phenotypically overlapping, rare, debilitating and complex conditions. Cilia are present on most cells that when they defective cause a wide range of clinical features including retinitis pigmentosa, renal cystic disease, polydactyly, situs inversus, cognitive impairment, hepatic disease, skeletal defects and brain defects.

The list of ciliopathies grows longer with each passing year and the underlying pathomechanisms for many aspects of their phenotypes (e.g. kidney disease, blindness, skeletal abnormalities) are being elucidated.

In this talk I will explore the evidence pointing to the role of primary cilia in disease and share some early insights into new functions in the brain we have discovered in our lab. These will then be discussed in the context of patient phenotypes and potential avenues for therapy of some of these disorders.