Clarke, Angus - Cardiff University

个人简介

I am a clinical geneticist working both as professor in the Division of Cancer & Genetics (50%) and as (honorary) consultant in the All Wales Medical Genetcs Service (50%). My academic work is divided between research, teaching and scholarship. I have research interests in a few specific genetic disorders (especially Rett syndrome and ectodermal dyslasia) and in the genetic counselling process more generally, examining interactions in clinic, processes of family communication, and broader topics such as stigmatisation in relation to physical appearance. I established and co-direct the Cardiff University MSc course in Genetic Counselling and also teach undergraduate medical students and intercalating students. I usually support one or two PhD students. My clinical work includes 'general genetics' clinics held in Cardiff and Rhondda and special interest clinics, including clinics for Huntington's disease, muscle disease and occasional multidisciplinary clinics for Rett syndrome. This work includes some aspects of disease management as well as addressing the questions and concerns of patients and families regarding the genetics of their disorder. I have a broader role in the University Health Board on the Clinical Ethics Committee.

研究领域

My interests include (i) clinical genetic aspects of Rett syndrome (and related disorders) and of ectodermal dysplasia and (ii) the broader social and ethical aspects of genetic disease. Current projects include: (i) a three-centre (Exeter, Cardiff and Southampton) ESRC-funded project on ReContacting patients in the context of 'mainstreaming' genomics within medicine, (ii) continuing follow-up of patients who participated in the trial of an experimental treatment of newborn males affected by X-linked hypohidrotic ectofermal dysplasia, designed and funded by Edimer Pharmaceuticals, (iii) analysis and disseminaion of findings from ERUK-funded project on clinical exome sequencing of patients with infantile epileptic encephalopathy (with Dr Andrew Fry and others), (iv) an MSc student project on genetics and adoption (with Ms Nicola Vincent and Dr Kate Burke). (v) establishing iPS cell lines from patients with the FOXG1- and CDKL5-related variant forms of Rett syndrome, with support from patient groups (with Dr David Millar). (vi) collaborations with international colleagues on social and ethical aspects of genetics (Dr Alvaro Mendes, Portugal, and Prof Akane Kondo, Japan).

近期论文

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McRae, J.et al. 2017. Prevalence and architecture of de novo mutations in developmental disorders. Nature (10.1038/nature21062) pdf Hryniemiecka-Jaworska, A.et al. 2016. Prevalence and associated features of depression in women with Rett Syndrome. Journal of Intellectual Disability Research 60(6), pp. 564-570. (10.1111/jir.12270) Clarke, A. J. 2016. Anticipated stigma and blameless guilt: mothers' evaluation of life with the sex-linked disorder, hypohidrotic ectodermal dysplasia (XHED). Social Science & Medicine 158, pp. 141-148. (10.1016/j.socscimed.2016.04.027) pdf Baig, S.et al. 2016. 22 years of predictive testing for Huntington's disease: the experience of the UK Huntington's Prediction Consortium. European Journal of Human Genetics 24, pp. 1396-1402. (10.1038/ejhg.2016.36) Tooley, M.et al. 2016. Cerebro-Costo-Mandibular syndrome: Clinical, radiological and genetic findings. American Journal of Medical Genetics Part A 170(5), pp. 1115-1126. (10.1002/ajmg.a.37587) Burke, K. and Clarke, A. 2016. The challenge of consent in clinical genome-wide testing. Archives of Disease in Childhood 101, pp. 1048-1052. (10.1136/archdischild-2013-304109) Fry, A.et al. 2016. Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy. BMC Medical Genetics 17(1), article number: 34. (10.1186/s12881-016-0294-2) pdf Cianfaglione, R.et al. 2016. Change over a 16 month period in the psychological well-being of mothers of girls and women with Rett syndrome. Developmental Neurorehabilitation 28 (10.3109/17518423.2016.1142483) Cianfaglione, R.et al. 2016. Direct observation of the behaviour of females with Rett Syndrome. Journal of Developmental and Physical Disabilities 28(3), pp. 425-441. (10.1007/s10882-016-9478-0) pdf Cianfaglione, R.et al. 2016. Ageing in Rett syndrome. Journal of Intellectual Disability Research 60(2), pp. 182-190. (10.1111/jir.12228)