Rare Disease Patient-Led Functional Genomics- A Tale of Tubulins

Prof Pleasantine Mill is an MRC Investigator at the MRC Human Genetics Unit at the University Edinburgh, UK where she leads a programme to understand genetic disease and disease mechanisms arising from dysfunction of mammalian cilia, called the ciliopathies. With 20 years of expertise in developmental genetics and cell biology, her work spans from forward genetics screens through to candidate discovery in human disease genetics. Her lab focuses on phenotype-driven projects which disrupt cilia structure and/or function to undercover underlying genetic changes, understand disease mechanisms and move towards much needed therapeutics for rare diseases. Her novel in vivo work can be summed up as ‘cell biology on an organismal scale’. Her lab harnesses quantitative imaging across biological scales (from light microscopy through to electron microscopy) to understand how different types of mammalian cilia are assembled and maintained, and how they are disrupted by disease-causing mutations. Her work is funded by the UK Medical Research Council, NIHR, LifeArc and the European Research Council