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PROGRAMME 09:30 Registration 09:50 Opening and Introduction (Ruth Newbury-‐Ecob) 10:00 Session 1 – Spotlight on the treatment and management of genetic disorders Molecular diagnosis in inherited retinal disease in the era of whole genome 10:00-‐10:30 sequencing Andrew Webster, Department of Ocular Biology and Therapeutics, UCL Institute of Ophthalmology and Moorfields Eye Hospital NHS Foundation Trust, London Advances in prenatal diagnosis of monogenic disorders 10:30-‐11:00 11:00-‐11:30 Lyn Chitty, North Thames NHS Genomic Medicine Centre, Great Ormond Street NHS Foundation Trust and Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London Huntington’s Disease and updates in therapies Sarah Tabrizi, UCL Huntington's Disease Centre, Department of Neurodegenerative Disease, Institute of Neurology, University College London, London 11:30 Session 2 – Updates on 11:30-‐11:55 Overgrowth genes and Paediatric Cancers Kate Tatton-‐Brown, Institute of Cancer Research, St George's University of London and the Royal Marsden Hospital, London 11:55-‐12:20 Cutaneous mosaic disorders Veronica Kinsler, Paediatric Dermatology, Great Ormond St Hospital for Children and Genetics and Genomic Medicine, UCL Institute of Child Health, London 12:20-‐12:45 Chromatin modification and developmental delay Cristina Dias, The Francis Crick Institute, London 12:45-‐13:15 Annual General Meeting 16th March 2017 Spring Meeting CGS 2017 School of African and Oriental Studies London WC1H 0XG 13:15-‐14:00 Lunch 14:00 Session 3 – Submitted Abstracts (10 min each + 2 MIN QUESTIONS) Mitochondrial Replacement Therapy becomes a reality Frances Flinter, South-‐East Thames Regional Genetics Service, Guy’s Hospital NHS Trust, London Variant and Clinical Assessment tools in DECIPHER to support multidisciplinary assessment Helen V Firth, Cambridge University Hospitals and Wellcome Sanger Institute, Cambridge, UK Clinical features associated with variants in MYT1L Alisdair McNeill, University of Sheffield & Sheffield Clinical Genetics Service, Sheffield, UK Optimising the diagnostic pipeline for patients with mosaic segmental overgrowth disorders Katrina Andrews, Core Medical Trainee, Cambridge University Hospitals & Metabolic Research Laboratories, Wellcome Trust-‐MRC Institute of Metabolic Science, Cambridge, UK A New Vascular Ehlers-‐Danlos Syndrome Emergency Medical Information Card Jessica Bowen, Genetic Counsellor, Ehlers Danlos Syndrome National Diagnostic Service, Sheffield Clinical Genetics Department, Sheffield, UK 15:00-‐15:30 Tea 15:30 Session 4 – SpR presentations (10 min each + 2 MIN QUESTIONS) (Chair: Jane Hurst) Two Families with PRPS1 mutations causing clinical features of gout and learning difficulties Jennifer Hague, Trainee in Clinical Genetics, Cambridge Patients with mutations in ASXL1, ASXL2, ASXL3 and KLHL7 have Bohring-‐Opitz Syndrome and Bohring-‐Opitz like conditions Joanna Kennedy, Trainee in Clinical Genetics, Bristol Variants in PUF60 cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal anomalies Karen Low, Trainee in Clinical Genetics, Bristol Spring Meeting 16th March 2017 CGS 2017 School of African and Oriental Studies London WC1H 0XG Breast screening in women with Ataxia-‐Telangiectasia Katherine Schon, Trainee in Clinical Genetics, Cambridge Genetic Risk Factors for Laterality Defects and Congenital Heart Disease in 389 Patients with Primary Ciliary Dyskinesia Sunayna Best, Genomics Clinical Fellow, UCL, London 16:40-‐ 16:45 Award of Robin Winter Prize 16:45 Wine Reception
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