Consultant Clinical Geneticist , North Western Regional Genetic Service

Honorary Professor in Medical Genetics

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 and Pitt Hopkins Syndrome. From 2007-13 led 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. Currently leading a European Reference Network for Rare Congenital Malformations and Intellectual Disability ( ITHACA).

 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 disorder. I have followed up a cohort of individuals with Angelman syndrome for the last thirty 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. 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  with a group undertaking a similar multicentre study in the US. Through this work we have changed prescribing habits for epilepsy in pregnancy.

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
• Syndrome diagnosis
• Pregnancy and epilepsy
• Angelman syndrome
• KAT6B mutations
• Cleft genetics

I also have experience of involving children in research.

Regular teaching for 4th year and final year undergraduate medical students.

Supervision of studenet attachments and APEPS.   I  supervise  MRes student sintercalating between 4th and final years and  MD students

Clnical Lead for Manchester MSc in Genomic Medicine. From 2016 will be involved in coordinating one of the Health Care Scientist Training Course modules on the new HEE funded training course due to start in Manchester.

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

I co-lead 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 Member

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

Pregnancy and Epilepsy: Professor Gus Baker, University of Liverpool

                                   Dr Rebecca Bromley, NIHR Training Fellow, Manchester

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

                                   Professor Bill Shaw, University Dental Hospital of Manchester

 Ophthalmic Genetics      Professor Graeme Black, Ophthalmic Genetics, UoM

                                   Prof I C Lloyd, Institue of Child Health, London/CMFT

Learning disability:        Prof Bill Newman. Manchester Centre For Genomic Medicine

                                   Professor Han Brunner , University of Nijmegen

Fellow of Royal College of Physicians of London

British Society for Human Genetics

Clinical Genetics Society ( President 2013-2015)

European Society for Human Genetics

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

Leader, ITHACA, EU network for Rare Congenital Malformations and Intellectual Disability

Medical Advisor, Angelman Syndrome Support Group

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

MB ChB Hons Manchester 1982

MRCP UK Edinburgh 1985

MD (with gold medal) Manchester 1993

FRCP London 1999