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

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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

  • Peat, RA, Baker, NL, Jones, KJ, North, KN, Lamandé, SR. Variable penetrance of COL6A1 null mutations: Implications for prenatal diagnosis and genetic counselling in Ullrich congenital muscular dystrophy families. Neuromuscular Disorders 17(7) : 547 -557 2007
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  • Baker, NL, Mörgelin, M, Pace, RA, Adams, NE, Bateman, JF, Lamandé, SR. A spectrum of dominant collagen VI mutations in Bethlem myopathy. Matrix Biology 25: s64 -s65 2006
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  • Lamandé, SR, Mörgelin, M, Adams, NE, Selan, C, Allen, JM. The C5 Domain of the Collagen VI α3(VI) Chain Is Critical for Extracellular Microfibril Formation and Is Present in the Extracellular Matrix of Cultured Cells*. Journal of Biological Chemistry 281(24) : 16607 -16614 2006
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  • McGillivray, G, Savarirayan, R, Cox, TC, Stojkoski, C, McNeil, R, Bankier, A, Bateman, JF, Roscioli, T, Gardner, RJM, Lamandé, SR. Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain. Journal of Medical Genetics 42(8) : 656 2005
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  • Bateman, JF, Wilson, R, Freddi, S, Lamandé, SR, Savarirayan, R. Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia. Human Mutation 25(6) : 525 -534 2005
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