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We are delighted to share that Pleasantine Mill, a prominent researcher working at the Human Genetics Unit (HGU) at the University of Edinburgh and an ESRIC associate, has been awarded the prestigious British Society for Cell Biology WICB Early Career Medal. Pleasantine is an invaluable member of our ESRIC team of experts with her in-depth knowledge and experience in human genetics and disease and how to study them using advanced microscopy.

The award was established in 2015 to mark the 50th anniversary of the founding of the BSCB. The award celebrates early-career women who are making outstanding scientific contributions in cell biology.

Pleasantine undertook her PhD in Molecular Genetics at the University of Toronto, Canada. She has been a Programme Leader since 2014 and focuses on understanding the role of genetic variation of mammalian cilia in a wide spectrum of clinical features in ciliopathy patients. Ciliopathies are a diverse class of human genetic diseases, with over 20 recognized syndromes caused by mutations at ~100 different loci.

Whilst at the HGU Pleasantine initiated a forward genetic mutagenesis screen in mice to discover novel genes or processes involved in neural crest development as well as isolating and mapping several novel mutant lines which disrupted developmental signalling, leading to greater insight into defects in cilia structure or function. Since becoming a group leader Pleasantine has continued her work into ciliopathies and developed new resources to help profile different disease-relevant mammalian cilia types in an unbiased and sensitive way. She hopes that improved understanding of diversity of the mammalian cilia repertoire will inform novel therapeutic strategies for ciliopathies.

Pleasantine will recieve her medal at the BSCB/BSDB main spring meeting at the University of Warwick, 7th to 10th April 2019. Well done Pleasantine! A fantastic achievement!