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Clarke Clarke

Professor Clarke Clarke

Research, teaching and engagement alongside (honorary) clinical activities for C&V UHB.

School of Medicine

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Available for postgraduate supervision

Overview

I have worked as a clinical geneticist since 1989 but, since 2023, I have retired from regular clincal work. I remain involved in rare disease research, publishing books and outputs from research projects, teaching MSc students and an ongoing clinical trial.

My academic work is divided between research, teaching and scholarship. I have long-standing research interests in a few specific genetic disorders (especially Rett syndrome and ectodermal dyslasia) and in the genetic counselling process. I study what goes on in the genetic counselling 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 (in 2000) and continue to be involved now that it has become the MSc course in Genetic & Genomic Counselling.

My clinical work includes 'general genetics' clinics held in Cardiff and Rhondda and specialist clinics in Cadiff, with a focus on Huntington's disease, muscle disease and 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 role in the Cardiff & Vale University Health Board as Principal Investigator on a clinical trial and on the Clinical Ethics Committee (formerly as chair).

I am often also engaged in work on public and professional policies in relation to genetic disorders. This has involved recent and current projects for the European Society of Human Genetics, the Nuffield Council on Bioethics and the British Society for Genetic Medicine. I am an organiser of the UK Genethics Forum. 

In addition to the usual academic publications in journals, I have produced ten books as author or editor: 

*Clarke A. 2020. Harper’s Practical Genetic Counselling (8th edition). Taylor & Francis [9th edition is in preparation with Marc Tischkowitz and Sofia Douzgou Houge]. 

*Dagmar Schmitz, Angus Clarke, Wybo Dondorp (Eds). 2018. The Fetus as a Patient: A Contested Concept and its Normative Implications. Abingdon: Routledge

*Kaufmann WE, Percy AK, Clarke AJ, Leonard H, Naidu SB (Eds.). 2017. Rett Syndrome. London: McKeith Press (Clinics in Developmental Medicine Series)

*Arribas-Ayllon M, Sarangi S, Clarke A. 2011. Genetic Testing. London: Routledge

*Clarke A, Ticehurst F (eds.) 2006. Living with the Genome. Ethical and Social Aspects of Human Genetics. Basingstoke and New York: Palgrave Macmillan

*Featherstone K, Bharadwaj A, Clarke A, Atkinson P. 2006. Risky Relations. Family and Kinshipnin the Era of New Genetics. Oxford: Berg Publishers

*Clarke A (ed) 1998 The Genetic Testing of Children. Oxford: Bios Scientific Publishers

*Harper PS, Clarke A 1997 Genetics, Society and Clinical Practice. Oxford: Bios

*Clarke A, Parsons EP (eds) 1997 Culture, Kinship and Genes. Basingstoke: Macmillan

*Clarke A (ed). 1994. "Genetic Counselling: practice and principles". London: Routledge

 

Publication

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Research

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, such as stigmatisation in relation to physical appearance.

My principal project now is an ESRC-funded project on how patients make decisions about genetic testing. This is looking especially at (a) predictive genetic testing for late-onset diseases (such as Huntington's disease) and (b) the investigation and management of pregnancies where an ultrasound scan of the foetus (unborn baby) has shown signs of a serious structural problem, such as a congenital heart defect. This project is a collaboration including Southampton, Exeter, Bristol and Swansea as well as Cardiff. 

Our focus in this project is on what matters for people in their broader lives outside clinic - their 'life-world' - and not just what goes on within the clinics, in the 'world of medicine'. We are therefore asking patients to keep diaries about what is going on for them, as well as recording clinic consultations and discussions and interviewing patients at the end of the process. 

I am arranging the distribution of iPS cell lines derived from patients with CDKL5- and FOXG1-related disorders, developed from two recent research projects into neurological disorders related to Rett syndrome.

We are also preparing for the introduction into the UK of an experiemntal trial of treatment in utero of male foetuses affected by X-linked hypohidrotic ectodermal dyplasia. This is being set up by 'Esperare' in collaboration with industrial partners and can be regarded as a follow-on to the recent trial of treatment of male neonates affected by the same condition (managed by Edimer Pharmaceuticals). 

Teaching

My teaching commitment falls into four categories.

(i) MSc in Genetic Counselling, now the MSc in Genetic & Genomic Counselling

I established this course and was course director until it discontinued in 2018. I remain actively involved in the succesor course in Genetic & Genomic Counselling, whichis largely an online course directed by Prof Marion MacAllister.

(ii) BSc in Medical Genetics

I established this intercalated one-year BSc course for undergraduate medical students in 1990 and have remained actively involved ever since, both as lecturer and module leader.

(iii) Undergraduate Medical Course

I contribute to the MB BCh course across the first four years, both in teaching Medical Genetics and more general topics such as Professionalism, both in formal lectures and in small group tutorials. I offer Student Selected Components in Years 1, 3 and 4 of the course.

(iv) Doctoral Students

I usually supervise one or two research (PhD or MD) students working on bioethics or related topics, as principal or as co-supervisor.

Biography

Education & Qualifications

BA II-1 Genetics 1976 King's College, Cambridge

BM, BCh Oxford 1979

MRCP(UK) Royal College of Physicians of London 1982

DM Oxford 1989

FRCP (Lond) 1994, FRCPCH 1997

Current Position

I have been Professor in Clinical Genetics since 2000. I was previously Reader from 1996 and, before that, Senior Lecturer from 1989. This position is held in the Division of Cancer & Genetics, School of Medicine, Cardiff University. I am also Honorary Consultant Clinical Geneticist, in the All Wales Medical Genomics Service, based within the Cardiff & Vale University Health Board.

Career Overview

I first studied Genetics (BA, 1976) and then qualified in Clinical Medicine (BM, BCh 1979). After registration, I worked in General Medicine and then Paediatrics. I studied the clinical and molecular genetics of ectodermal dysplasia in Cardiff and then worked in clinical genetics and paediatric neurology in Newcastle upon Tyne, developing an interest in Rett syndrome and neuromuscular disorders. I returned to Cardiff in 1989 and am now Professor in Clinical Genetics at Cardiff University School of Medicine and Honorary Consultant to the All-Wales Medical Genomics Service.

I have continued my interest in Rett syndrome, with molecular and cell-based research in the CDKL5 and FOXG1 conditions that are closely related to Rett syndrome. I have also maintained an interest in ectodermal dysplasia and developed further interests in genetic screening, the genetic counselling process and the social and ethical issues around human genetics. I was engaged in a clinical trial of treatment for newborn males affected by sex-linked hypohidrotic ectodermal dysplasia (XHED) and am now preparing for a trial of treatment in utero.

My interest in social science and ethics has developed out of my clncal experiences, and especially from spending so much time with families affeced by ectodermal dysplasia.  This has led me to focus on the 'lifeworld' factors that influence family communication about genetic conditions and also (in my current ESRC-funded project) the factors that affect patient decision making. I have worked with ectodermal dysplasia families to report their experiences of stigmatisation and its impact on reproductive decisions. I am on the Ethics Advisory Group of Genomics England and on the Public and Professional Policy Committee of the European Society of Human Genetics. I have (co)authored and edited ten books, including the latest edition of ‘Harper’s Practical Genetic Counselling’. I established and directed the Cardiff MSc course in Genetic Counselling from 2000 to 2018 and contribute to the teaching of MB and BSc students. I supervisesand examine doctoral students and am a medical adviser to Ectodermal Dysplasia UK, Rett UK and the Fragile X Society.

Professional memberships

British Society for Genetic Medicine (including the Clinical Genetics Society)

European Society of Human Genetics

Royal College of Paediatrics and Child Health (Fellow)

Royal College of Physicians (Fellow)

Academic positions

Previous Employment

Jan 1987-Jan 1989 Research Associate and (Hon) Senior Registrar in Departments of Human Genetics and Child Health, University of Newcastle upon Tyne, England.

June 1985-Dec 1986 Research Associate in Section of Medical Genetics, University of Wales College of Medicine, and (Hon) Registrar in Paediatrics, South Glamorgan Hospitals

May 1983-May 1985 Registrar in General and Neonatal Paediatrics, South Glamorgan Health Authority

August 1982 - April 1983 Senior House Officer in Neonatal Medicine, Bristol Maternity Hospital

August 1981-July 1982 Senior House Officer in Paediatrics, South Manchester Hospitals

August 1980-July 1981 Senior House Officer in General Medicine Peterborough District General Hospital

August 79-July 80 House Officer, John Radcliffe Hospital, Oxford

Committees and reviewing

  • Member of the Public and Professional Policy Committee of the European Society of Human Genetics (2016-2022)
  • Cardiff and Vale University Health Board Clinical Ethics Committee (Member from 2008, Chair from 2018)
  • Member, Ethics Advisory Group, Genomics England (from 2014) 
  • Policy work on genetic testing in childhood:
    • Chair, Clinical Genetics Society Working Party (1991-4)
    • Co-chair of the working party of the British Society for Genetic Medicine (2019-21)
    • Member of working parties on the same topic for European Society of Human Genetics (2008-9 and 2020-) and for the
    • British Society for Human Genetics (2008-10).
  • Chairman, Medical Board, Ectodermal Dysplasia Society; Chief Medical Adviser, Rett UK; Adviser: Fragile X Association
  • Member of the Board, European Society of Human Genetics (2015-18)
  • Editorial Board Member for Communication & Medicine (2003-), Journal of Community Genetics (2009-), European Journal of Human Genetics (2015-)
  • Represented Chief Medical Officer Wales on the Human Genetics Commission 2006-12 and Emerging Science and Bioethics Committee 2012-14 in the Dept of Health, London
  • Wellcome Trust Bioethics and Society Panel (2011-14)
  • Member of Council, British Society for Genetic Medicine (2011-14)
  • Member of Genetics Steering Group, Ethics Division, British Medical Association 1995-8
  • Chairman, Specialty Advisory Committee on Clinical Genetics, Joint Committee on Higher Medical Training 1996 to 2000 (Member from 1993, Secretary from 1994)

Supervisions

Genetic counselling

Social and ethical aspects of human and medical genetics

Clinical genetics

Medical ethics

Engagement

In addition to roles within professional organisations (see Overview), I contribute to the work of several patient support organisations:

*as Chair of the Medical Advisory Board of Ectodermal Dysplasia UK

*as Chief Medical Adviser to Rett UK

*as Special Adviser to the Fragile X Society

Other professional roles over the years have included:

  • Member of the Public and Professional Policy Committee of the European Society of Human Genetics (2016-2022)
  • Cardiff and Vale University Health Board Clinical Ethics Committee (Member from 2008, Chair from 2018)
  • Member, Ethics Advisory Group, Genomics England (from 2014) 
  • Policy work on genetic testing in childhood:
    • Chair, Clinical Genetics Society Working Party on Genetic Testing of Children (1991-4)
    • Co-chair of the working party of the British Society for Genetic Medicine on the same topic (2019-21)
    • Member of working parties on the same topic for European Society of Human Genetics (2008-9 and 2020-) and for the
    • British Society for Human Genetics (2008-10).
  • Member of the Board, European Society of Human Genetics (2015-18)
  • Editorial Board Member for Communication & Medicine (2003-), Journal of Community Genetics (2009-), European Journal of Human Genetics (2015-)
  • Represented Chief Medical Officer Wales on the Human Genetics Commission 2006-12 and Emerging Science and Bioethics Committee 2012-14 in the Department of Health, London
  • Wellcome Trust Bioethics and Society Panel (2011-14)
  • Member of Council, British Society for Genetic Medicine (2011-14)
  • Member of Genetics Steering Group, Ethics Division, British Medical Association 1995-8
  • Chairman, Specialty Advisory Committee on Clinical Genetics, Joint Committee on Higher Medical Training 1996 to 2000 (Member from 1993, Secretary from 1994)

Contact Details

Email ClarkeAJ@cardiff.ac.uk
Telephone +44 29207 44051

External profiles