Associate Professor Raymond Clarke

Dr. Raymond Clarke – Klippel-Feil Syndrome Alliance

Associate Professor Raymond Clarke is Director of Human Genetics at the Ingham Institute, University of Western Sydney, Australia, and Adjunct Senior Lecturer at the University of NSW and the University of Queensland.

Academic Background

Associate Professor Clarke completed his PhD in Biochemistry and Molecular Genetics in collaboration with the CSIRO at the University of New South Wales. Raymond was awarded a Postdoctoral Position of Excellence in Immunogenetics with the CSIRO.

Research Interests

Associate Professor Clarke specialises in Human Genetics and is well known for his group’s discovery of the first gene (GDF6) mutations causing familial and sporadic spinal birth defects in KFS (Tassabehji et al 2008). GDF6 regulates development of the vertebral disc and numerous other important joints and cartilages in the face, throat, skull, hands and feet.

Associate Professor Clarke is Head of the KFS Gene Discovery Program. Associate Professor Clarke is also involved in research to identify the genetic basis of Tourette syndrome and related disorders including Autism.

Selected Publications

Tassabehji M, Fang ZM, Hilton EN, McGaughran J, Zhao Z, de Bock CE, Howard E, Malass M, Donnai D, Diwan A, Manson FD, Murrell D, Clarke RA. Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome. Human Mutation 2008, 29 (8), 1017-1027.

Clarke RA*, Fang ZM*, Diwan A and Gilbert DL, Tourette Syndrome and Klippel-Feil anomaly in a child with chromosome22q11 duplication, Case Reports in Medicine, 2009 Article ID 361518.

Clarke RA, Lee S, Eapen V. Pathogenetic model for Tourette syndrome delineates overlap with related neurodevelopmental disorders including Autism. Translational Psychiatry 2012 Sept, e158; doi:10.1038/tp.2012.75.

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