The Clinical Genetics Unit works closely with the Molecular Medicine Unit and the Clinical and Molecular Genetics Unit at the Institute of Child Health in a number of areas of research and a number of the consultants have joint appointments with dedicated research time.
The department also work with researchers from across the UK and internationally to recruit to a wide variety of research studies relevant to the children and families seen in our clinics.
The principal focus of the research is the delineation of genetic disorders and the identification and clinical translation of their underlying causes. Particular areas of research expertise include clinical dysmorphology, the genetics of cleft lip and palate, the genetics of hearing loss, Fragile X syndrome, skeletal dysplasias and prenatal diagnosis.
Jeans AF, Frayling I, Dasani B, Side L, Blesing C, Ansorge O. Cerebral primitive neuroectodermal tumour and rectal carcinoma in a patient with a homozygous MSH2 mutation. Nat Rev Clin Oncol. 2009 May;6(5): 295-9
Duncan AJ, Bitner-Glindzicz M, Meunier B, Costello H, Hargreaves IP, Lopez LC, Hirano M, Quinzii CM, Sadowski MI, Hardy J, Singleton A, Clayton PT, Rahman S. (2009) A molecular cause of autosomal recessive neonatal onset primary coenzyme Q10 deficiency – a potentially treatable form of mitochondrial disease. Am J Hum Genet 84(5): 558-66 Epub 2009 Apr 16
Oxford Desk Reference: Clinical Genetics by Firth HV, Hurst JA with Hall JG (Advisory editor) ISBN 0-19-262896-8 OUP July 2005
Oxford Handbook of Genetics: Guy Bradley-Smith, Sally Hope, Helen V. Firth and Jane A. Hurst ISBN13: 9780199545360ISBN10: 0199545367 OUP 2009.
Lees MM Cleft Lip and Palate in “Paediatric Surgery” edited by Mark Davenport and Agostino Peirro, 2009
Side LE. Genetic Counselling and Clinical Cancer Genetics. In Clinical Endocrine Oncology (Eds Wass J, Turner H, Hay I). Blackwell, Oxford 2008.
Wilson LC. Albright’s Hereditary Osteodystrophy and Related Disorders. Obesity Syndromes. Ed. Beales P. (2009). Oxford University Press. ISBN 978-0-19-530016-1
Shaw, A. & J. Hurst. In press. Ideas about the causes of Inherited Illness among British Pakistani Users of Genetic Services. In: Dhavendra Kumar (ed.) Genomics and Health in The Developing World, Oxford University Press.