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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

  • Lamandé, SR. Collagen VI Muscle Disorders: Mutation Types, Pathogenic Mechanisms and Approaches to Therapy. 1348: 311 -323 2021
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  • Nur Patria, Y, Stenta, T, Lilianty, J, Rowley, L, Stanley, EG, Elefanty, AG, Bateman, JF, Lamandé, SR. CRISPR/Cas9 gene editing of a SOX9 reporter human iPSC line to produce two TRPV4 patient heterozygous missense mutant iPSC lines, MCRIi001-A-3 (TRPV4 p.F273L) and MCRIi001-A-4 (TRPV4 p.P799L). Stem Cell Research 48: 101942 2020
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  • Kung, LHW, Sampurno, L, Yammine, KM, Graham, A, McDonald, P, Bateman, JF, Shoulders, MD, Lamandé, SR. CRISPR/Cas9 editing to generate a heterozygous COL2A1 p.G1170S human chondrodysplasia iPSC line, MCRIi019-A-2, in a control iPSC line, MCRIi019-A. Stem Cell Research 48: 101962 2020
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  • Pham, HT, Kram, V, Dar, Q-A, Komori, T, Ji, Y, Mohassel, P, Rooney, J, Li, L, Kilts, TM, Bonnemann, C, et al. Collagen VIα2 chain deficiency causes trabecular bone loss by potentially promoting osteoclast differentiation through enhanced TNFα signaling.. Sci Rep 10(1) : 13749 2020
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  • Lamandé, SR, Bateman, JF. Genetic Disorders of the Extracellular Matrix. The Anatomical Record 303(6) : 1527 -1542 2020
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