Postal address:
Oxford Rd
6th Floor St Mary's Hospital
M13 9WL
Manchester
United Kingdom

Phone: 0161 276 6269

Biography

Qualified in Manchester in 1982 and trained in adult medicine, paediatrics and obstetrics before entering the field of Clinical Genetics in 1986. Clinical Fellow funded by Muscular Dystrophy Group at Institute of Child Health London 1988-89 followed by 3 years as an Action Reserach Training Fellow researching into the Clinical and Genetic Aspects of Angelman Syndrome. Completed clinical training in Manchester and accredited as a Clinical Geneticist in 1993. Appointed to the post of Consultant Clinical Geneticist at St Mary's Hospital, Manchester in 1994. Maintained research interests into Angelman syndrome and related neurodevelopmental disorders. PI on a long term follow up study of children born to mothers with epilepsy, with particular experience of Fetal Valproate Syndrome. Current research interests also involve genetics of orofacial clefting and syndromic eye disease.  Involved in aspects of service delivery for patients with genetic disorders; one of the leaders on a DOH funded project between 2004-2007 developing personal health records for patients with neurofibromatosis, achondroplasia and Di George syndrome. Involved in development of genetic testing fservice for Angelman syndrome in Manchester. Active in several lay groups including those for Angelman syndrome, Mowat wilson Syndrome and NOFAS, National Organisation for Fetal Alcohol Syndrome. Lead the Dyscerne Project network which uses a web-based system for submission of difficult to diagnose cases for expert review. This project has also involved development of clinical guidelines for some of the rare dysmorphic syndromes ( Williams syndrome, Kabuki Syndrome, Angelman Syndrome, Noonan Syndrome). My work in the firled of rare diseases has also involved contribution to EURORDIS, the European rare disease network and the UK Working Group om Rare Disease Strategy.

Current reserach interests involve examining the use of newer genetic technologies , particularly Next Generation Sequencing for Diagnosis of Developmental Disorders and Intellectual Disability. We are working on a project to evaluate the use of this technology in the diagnosis of syndromic learning disability associeted with seizures and movement disorder ( Angelman and Rett-like syndromes). We have also been successful in identifying several genes for multiple anomaly syndromes using this approach.

I have a keen interest in teaching at both undergraduate and postgraduate level. I run an annula manchester Dysmorphology Training course which attracts trainees from throughout Europe and farther afield. I have been a Faculty Memeber on several EU teaching courses. I co-organise the Syndrome Identification workshops at the annual Europena Society of Human Genetics Meetings and the International Manchester Dysmorphology Conference which takes place every two years.

Collaborators and affiliated staff

Pregnancy and Epilepsy: Professor Gus Baker, University of Liverpool

                                 Professor Kimford Meador, University of Georgia

Oro-facial Clefting:        Professor Mike Dixon, University of Liverpool

                                 Professor Bill Shaw, University Dental Hospital of Manchester

Array CGH work:

Autozygosity mapping:   Professor Graeme Black, Ophthalmic Genetics, UoM

                                 Dr Bill Newman. Senior Lecturer in Genetics, U of M

Learning disability:        Professor Han Brunner , University of Nijmegen

                                 Professor Stefan Mundlos, University of Berlin

                                Professor Peter Robinson, University of Berlin

Dyscerne Project:         Professor Dian Donnai, University of Manchester

                                 Dr Bronwyn Kerr, Genetics, St Mary's Hospital, Manchester

                                 Dr Kay Metcalfe, Genetics, St Mary's Hospital, Manchester

                                 Professor Koen Devriendt, University of Leuven

                                 Professor Bruno Dalapicolla, University of Rome

                                 Professor Malgorzata Krajewska-Walasek, University of Warsaw

                                 Dr Nicole Philippe, University of Marseille

                                 Dr Ineke Van der Burgt, University of Nijmegen

3D imaging studies:       Professor Peter Hammond, Institute of Child Health, London

 

Memberships of committees and professional bodies

Fellow of Royal College of Physicians of London

British Society for Human Genetics

Clinical Genetics Society

European Society for Human Genetics

American Society of Human Genetics

Leader, Dyscerne Project, European Network of Centres of Expertise in Dysmorphology

Medical Advisor, Angelman Syndrome Support Group

Methodological knowledge

  • Observational research
  • Action Research
  • Clinical Trials
  • Long-term follow-up studies
  • Qualitative reserach 

Overview

Consultant Clinical Geneticist , North Western Regional Genetic Service

Honorary Professor in Medical Genetics

Clinical Lead for Research, St Mary's Division, Central Manchester University Hospitals Foundation Trust

Qualifications

MB ChB Hons Manchester 1982

MRCP UK Edinburgh 1985

MD (with gold medal) Manchester 1993

FRCP London 1999

Research interests

I am a member of the Institute of Health Sciences (IHS) Child Health Research Network.

I have been undertaking research in the field of genetics since 1988 when I held an Action Research Training Fellowship. My research interests have been varied and have included clinical, cytogenetic and molecular genetic projects. My research is largely service driven and aimed at answering questions which arise during my day to day clinical work with individuals with genetic disorders and malformations.

I have had a longstanding interest in Angelman syndrome, a rare learning disability diorder which was the subject of my MD. I have followed up a cohort of individuals with Angelman syndrome for the last twenty years and have written many clinical papers on this condition, and on neurodevelopmental disorders such as Rett syndrome, Mowat Wilson Syndrome and Pitt Hopkins syndrome which come into the differential diagnosis of Angelman syndrome. I have also studied the genetic mechanisms giving rise to Angelman syndrome and have thus become interested in other disorders of genomic imprinting.

Since first observing the problems seen in children exposed to valproic acid in utero in 1995 I have been involved in setting up and undertaking a long term prospective follow-up study of children born to mothers with epilepsy, with a particular interest in fetal valproate syndrome and it's effects both on physical development and on long term development and behaviour. This study has been undertaken with colleagues from the Neurosciences Department at the University of Liverpool and more recently we have joined a multicentre study following a similar cohort of children from the US.

Other patient cohorts we are currently studying include those with Ohdo syndrome, Macrocephaly-Capillary malformation syndrome and Coffin Siris syndrome

I have worked closely with the Regional Cleft Lip and Palate Network for the last 15 years and provide genetic input into the multidisciplinary team. This has led to involvement in the field of orofacial clefting, both the genetic aspects in identifying causative genes and providing input to clinical trials where differentiation of syndromic clefts from non-syndromic clefts is of crucial importance. I am also involved in qualiatative research looking at aspects of genetic service delivery for cleft lip and palate patients.

 

Keywords

  • Dysmorphology
  • Pregnancy and epilepsy
  • Angelman syndrome
  • Cleft genetics

I also have experience of involving children in research.

Teaching

I have a regular teaching committment for 4th year and final year undergraduate medical students. I am also involved in supervision of SSCs, 4th year project options and mentoring of the group of student who are attached to the Clinical Genetics Department for their option.

 I  supervise  MRes student sintercalating between 4th and final years and  MD students

I teach on the MSc genetic counselling course and supevise MSc projects

I act as a mentor for students with special problems

I give a range of lectures to postgraduates form various disciplines and offer teaching in the clinic situation to trainees in various disciplines.

I run the Manchester Dysmorphology Training course for trainees in Clinical Genetics from the UK and the EU.

I have taught on European Training Courses in Genetics as a Faculty Memeber

I facilitate dysmorphology workshops in several European countries including Norway , Denamark and annually at the European Society for Human Genetics Syndrome Identification Workshops.

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