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 |
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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 |
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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 |
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Duchenne Muscular Dystrophy - the society and ambitions for DMD Hub Ms Emily Crossley, Co-founder and joint CEO, Duchenne UK |
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Project Hercules - getting new DMD treatments to the clinic Dr Matthew Lumley, Medical Director, Rare Diseases, Pfizer Innovative Health UK |
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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 |