Jill Clayton Smith

Overview

Consultant Clinical Geneticist , North Western Regional Genetic Service

Honorary Professor in Medical Genetics

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 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).