Genetics and Functional Biology
Philip Beales’ researches in to the cause and treatment of rare diseases having discovered over 40 disease-related genes in the last decade. His main research focus is on the ciliopathies, which he has helped to characterise clinically and molecularly. He proposed (and later proved) that non-motile cilia underpinned the multi-system disorder, Bardet-Biedl Syndrome. He was lead author on the first gene discovery for the Bardet-Biedl syndrome and Jeune Syndrome, the latter implicating for the first time, cilia dysfunction in skeletal dysplasias. His lab was one of the earliest to develop tools for the functional characterisation of ciliary proteins in disease including the generation of several animal models that have assisted in understanding disease causation.
Selected Publications (of 220 publications)
- Kilpinen H, Goncalves A, Leha A, Afzal V, Alasoo K, Ashford S, Bala S, Bensaddek D, Casale FP, Culley OJ, Danecek P, Faulconbridge A, Harrison PW, Kathuria A, McCarthy D, McCarthy SA, Meleckyte R, Memari Y, Moens N, Soares F, Mann A, Streeter I, Agu CA, Alderton A, Nelson R, Harper S, Patel M, White A, Patel SR, Clarke L, Halai R, Kirton CM, Kolb-Kokocinski A, Beales P, Birney E, Danovi D, Lamond AI, Ouwehand WH, Vallier L, Watt FM, Durbin R, Stegle O, Gaffney DJ. Common genetic variation drives molecular heterogeneity in human iPSCs. Nature. 2017 May 10. doi: 10.1038/nature22403.
- Munye MM, Diaz-Font A, Ocaka L, Henriksen ML, Lees M, Brady A, Jenkins D, Morton J, Hansen SW, Bacchelli C, Beales PL, Hernandez-Hernandez V. COLEC10 is mutated in 3MC patients and regulates early craniofacial development. PLoS Genet. 2017 Mar 16;13(3):e1006679. doi:10.1371/journal.pgen.1006679.
- Gerdes JM, Christou-Savina S, Xiong Y, Moede T, Moruzzi N, Karlsson-Edlund P, Leibiger B, Leibiger IB, Östenson CG, Beales PL, Berggren PO. Ciliary dysfunction impairs beta-cell insulin secretion and promotes development of type 2 diabetes in rodents. Nature Communications. 5:5308. doi: 10.1038/ncomms6308 (2014).
- McIntyre JC, Davis EE, Joiner A, Williams CL, Tsai IC, Jenkins PM, McEwen DP, Zhang L, Escobado J, Thomas S, Szymanska K, Johnson CA, Beales PL, Green ED, Mullikin JC, Program NC, Sabo A, Muzny DM, Gibbs RA, Attié-Bitach T, Yoder BK, Reed RR, Katsanis N, Martens JR. Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model. Nat Med. 2012 Sep 2. doi: 10.1038/nm.2860.
- Rooryck, C., Diaz-Font, A., Osborn, D.P., Chabchoub, E., Hernandez-Hernandez, V., Shamseldin, H., Kenny, J., Waters, A., Jenkins, D., Kaissi, A.A., Leal, G.F., Dallapiccola, B., Carnevale, F., Bitner-Glindzicz, M., Lees, M., Hennekam, R., Stanier, P., Burns, A.J., Peeters, H., Alkuraya, F.S. & Beales, P.L. Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome. NATURE GENETICS 43, 197-203 (2011).
Major Relevant Grants
- 2018-2023: Wellcome Trust Collaborative Grant 'Impact of missense mutations in recessive Mendelian disease: insight from ciliopathies' - £3,200,000
- 2017-2019: Apollo Therapeutics – AAV gene therapy for the treatment of Bardet-Biedl syndrome - £840,000
- 2007-2014: Wellcome Trust Senior Research Fellowship in Clinical Science 'Investigating the role of primary cilia in development and disease' - £1.57m
- 2012-2017: Wellcome Trust Strategic award/MRC – 'Human induced Pluripotent Stem Cell Resource (HipSci)' – (co-applicant) – lead Fiona Watt & Richard Durbin - £13m
- 2009-2012: Medical Research Council 'The role of cilia in development of hyperinsulinaemia and insulin resistance' - £457,350
- 2010-2013: Wellcome Trust UK10K project – Rare disease contributor - £10m
- 2010-2015: EU Framework Programme 7 – SYSCILIA 'Systems biology of the cilium and disease' - EURO 529,000