I started my PhD project in Paul Gissen’s lab in September 2013 after completing a year of three rotations in UCL as part of the LMCB four year PhD programme.  In Paul Gissen’s lab we are interested in determining the underlying molecular mechanisms of the severe multisystem disorder Arthrogryposis, Renal dysfunction and Cholestasis (ARC) syndrome, caused by mutations in genes VPS33B and VIPAS39 (encoding VPS33B and VIPAR). One permanent feature of ARC is severe ichthyosis, suggested to be due to defective secretion of lamellar body contents.  Although most patients do not live to be older than one year we have recently described several patients with severe ichthyosis and milder forms of ARC with novel genetic variants in VPS33B and VIPAR.  One main focus of my research is to characterise the underlying molecular and cellular pathology of ichthyosis in these patients.