Pleasantine Mill

Mill completed her bachelor's degree at McGill University in 1999.[5] She joined University of Toronto for her PhD, working on transcription factors in the Hedgehog signaling pathway in skin development and tumorigenesis supervised by Chi-chung Hui.[2][5][6][7] Her work contributed to the book Hedgehog-Gli Signaling in Human Disease.[8] She worked at the Hospital for Sick Children and earned her PhD in 2004.[4]

Mill was awarded a Canadian Natural Sciences and Engineering Research Council (NSERC) postdoctoral research fellowship to join the Medical Research Council (MRC) Human Genetics Unit (HGU). She worked on mouse mutagenesis.[5] During her postdoctoral work she identified several novel mutant lines that disrupted developmental signalling.[4] Mill was appointed a Caledonian Research Foundation Fellow at the University of Edinburgh.[5] Since 2014 Mill has established a cilia-focussed programme that uses Small interfering RNA screening.[5] She works with clinical geneticists to understand the molecular phenotypes that underlie ciliopathies in humans.[4] She was awarded a £1.5 million grant from UK Research and Innovation (UKRI) to explore mammalian cilia in development and disease.[9]

Mill examined the influence of the Retinitis pigmentosa GTPase regulator (RPGR) gene on the cells in the eye and how they can cause X-linked retinitis pigmentosa, a condition which causes blindness in middle age.[10] Photoreceptors decay in retinitis pigmentosa patients due to a flaw in the RPGR gene.[10] In 2018 Mill identified a new therapeutic technique for primary ciliary dyskinesia (PCD).[11] She proposed that drugs which make dynein motor proteins functional could improve the quality of life of patients with primary ciliary dyskinesia.[11][12] In October 2018 Mill chaired the first PCD awareness day.[13] She proposed that the Government of the United Kingdom introduced early genetic diagnosis of PCD for babies with no identified causes of neonatal respiratory distress.[14] She hopes that genome editing will be able to treat PCD.[14] She collaborated with Richard Mort at Lancaster University to develop a fluorescent biosensor that illuminates dividing cilia and cells.[15] The technique allows the study of the interactions between cilia and cells in development, regeneration and disease.[16] It investigates how cilia length and dynamics impact the speed of cell division and tissue development.[17]