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Details

Role Princ Res Fellow, Lead, Bone & Cartilage
Research area Stem Cell Medicine

Contact

Available for student supervision
Human skeletal development and correct bone, cartilage, joint and muscle function are determined by complex interactions between developmental signalling pathways. Genetic and acquired disorders affecting these tissues are common. The group’s research aims to understand the molecular basis of these disorders to improve diagnosis and genetic counselling, identify new therapeutic targets and test new treatments to ultimately improve the quality of life for children with these debilitating conditions
Human skeletal development and correct bone, cartilage, joint and muscle function are determined by complex interactions between developmental signalling pathways. Genetic and acquired disorders affecting these tissues are common. The group’s...
Human skeletal development and correct bone, cartilage, joint and muscle function are determined by complex interactions between developmental signalling pathways. Genetic and acquired disorders affecting these tissues are common. The group’s research aims to understand the molecular basis of these disorders to improve diagnosis and genetic counselling, identify new therapeutic targets and test new treatments to ultimately improve the quality of life for children with these debilitating conditions

Top Publications

  • Woodman, K, Coles, C, Toulson, S, Gibbs, E, Knight, M, McDonagh, M, Crosbie-Watson, R, Lamandé, S, White, J. Benfotiamine reduces pathology and improves muscle function in mdx mice. 2018
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  • Foley, AR, Donkervoort, S, Bolduc, V, Hu, Y, Cummings, B, Lek, M, Sarkozy, A, Jimenez-Mallebrera, C, Butterfield, R, Lamande, S, et al. P.25 A common COL6A1 deep-intronic pseudo-exon inserting mutation causes a distinct phenotype of Ullrich congenital muscular dystrophy. Neuromuscular Disorders 27: s106 2017
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  • Bolduc, V, Foley, A, Donkervoort, S, Hu, Y, Cummings, B, Lek, M, Sarathy, A, Sizov, K, Degefa, H, Wagener, R, et al. NG.O.14 A common dominant-negative COL6A1 pseudo-exon insertion is skippable using splice-modulating oligonucleotides. Neuromuscular Disorders 27: s177 2017
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  • Lamandé, SR, Cameron, TL, Savarirayan, R, Bateman, JF. Molecular Genetics of the Cartilage Collagenopathies. 99 -133 2017
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  • Woodman, KG, Coles, CA, Lamandé, SR, White, JD. Nutraceuticals and Their Potential to Treat Duchenne Muscular Dystrophy: Separating the Credible from the Conjecture.. Nutrients 8(11) : 2016
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