Rare Diseases Symposium 2018

Please take a look at the programme below and download the presentations from the day.

Thursday 17th May 2018 

Thursday 17th May 2018  
 09.00  Registration
 10.00  Opening Remarks
 John Williams, CEO, Birmingham Health Partners
 Professor Tim Barrett, Director of the Centre for Rare Disease Studies, University of Birmingham
 10.15 Plenary Lecture - Progress with rare diseases in the Genomics England 100,000 Genomes Project
Dr Anna Need, Genomics England Clinical Interpretation Partnership Team Lead and Senior Lecturer Queen Mary University of London
 10.45  Session One - Genomic medicine
   Lessons from the Deiphering Developmental Disorders (DDD) Project
 Dr Dominic McMullen, Consultant Clinical Scientist, West Midlands Regional Genetics Laboratories
   Findings from the Prenatal Assessment of Genomes and Exomes (PAGE) project
 Professor Mark Kilby, Dame Hilda Lloyd Professor of Fetal Medicine, University of Birmingham
   The genome revolution: transforming the NHS
 Ms Hilary Fanning, Deputy Director of Delivery, University Hospitals Birmingham NHS Foundation Trust
 12.00  Lunch and Exhibition
 13.30  Plenary Lecture - Ataxia Telangiectasia from gene discovery to translational medicine
 Professor Malcolm Taylor, Professor of Cancer Genetics, University of Birmingham
 14.00  Session Two - DNA damage and repair
   DNA repair mechanisms and primordial dwarfism
 Dr John Reynolds, Research Fellow in Cancer Sciences, University of Birmingham
   Fanconi Anaemia and BRCA mutations
 Dr Marc Tischkowitz, Reader in Medical Genetics, University of Cambridge
   Development of the Ataxia Telangiectasia clinical service
 Mr William Davis, Chief Executive Officer, Ataxia Telangiectasia Society
 15.15  Refreshments
 15.45  Plenary Lecture - Collaborative research and development in rare diseases
 Dr Nick Clarke, Head of U.K. Academic Partnerships, External Science and Innovation, Pfizer
16.10   Session Three - Duchenne Muscular Dystrophy
   Duchenne clinical trials - current and future prospects
 Professor Volker Straub, Harold Macmillan Professor of Medicine, University of Newcastle
   Duchenne Muscular Dystrophy - the society and ambitions for DMD Hub
 Ms Emily Crossley, Co-founder and joint CEO, Duchenne UK
   Project Hercules - getting new DMD treatments to the clinic
 Dr Matthew Lumley, Medical Director, Rare Diseases, Pfizer Innovative Health UK
   Duchenne Muscular Dystrophy - developing the clinical service and research in Birmingham
 Dr Helen Roper, Consultant in Neuromuscular Paediatrics, Heart of England NHS Trust Birmingham
 17.30  Close and Drinks Reception


Friday 18th May 2018 

 Friday 18th May 2018 
 08.30 Registration 
 09.15 Plenary Lecture - The Oxford Rare disease Initiative
Professor Chas Bountra, Chief Scientist, University of Oxford
 09.45  Session Four - Multidisciplinary Centres for Rare Diseases
  The Centre for Rare Diseases, University Hospitals Birmingham - the first 18 months
 Dr Graham Lipkin, Consultant physician renal medicine and Diretor, CfRD, University Hospitals Birmingham
   Opthalmic imaging for patients with rare diseases - eye disease and beyond
 Professor Alastair Denniston, Professor of Opthalmology, University of Birmingham
  Development of The Centre for Rare Diseases, Birmingham Women's and Children's Hospital
Ms Maria Kokocinska, Nephrology and Rare Diseases Research Coordinator, Birmingham Women’s and Children’s Hospital
   Rare diseases centres and transitioning from children to adult care - the user perspective
 Ms Sabah Jamil, Centre for Rare Diseases representative
 11.05  Refreshments
 11.30  Plenary Lecture - Inherited Immunodificiencies
 Professor Sophie Hambleton, Professor of Paediatrics and Immunology, University of Newcastle
 12.00  Session Five - Immunology and Inflammation
   The development of gene and cell based therapies in ADA-SCID and related disorders
 Dr Peter Mooney, Medical Scientific Liaison Director, Global Medical Affairs, Gene Therapy GSK
   Secondary immunodificiencies
 Dr Alex Richter, Senior Lecturer in Immunology, University of Birmingham
   Cell based therapy in inflammatory liver disease - the MERLIN trial
 Dr Ashnila Janmohamed, Clinical Fellow, Birmingham NIHR Biomedical Research Centre 
 13.15  Lunch
 14.15 Plenary Lecture - the NIHR Bioresource for Common and Rare Diseases
Professor Patrick Chinnery, Professor of Neurology, University of Cambridge and Co-Director, NIHR Bioresource for Common and Rare Diseases
 14.45  Session 6 - Rare disease cohorts
   Overgrowth disorders
 Dr Alison Foster, NIHR TRC Rare Diseases Research Fellow 
   Genetics of inherited platelet disorders
 Dr Neil Morgan, Senior Lecturer in Cardiovascular Genetics, University of Birmingham
   Developing new treatments for idiopathic intracranial hypertension
 Dr Alex Sinclair, NIHR Clinician Scientist Fellow, University of Birmingham
 16.00  Closing Remarks and symposium end