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
Time	Session
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 Deciphering 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
Time	Session
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 Director, 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 Immunodeficiencies  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 Immunodeficiencies  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