September 4, 2017

DEVELOPMENTAL GENETICS

09:30 - 09:40 Professor Wendy Bickmore, MRC Human Genetics Unit"Opening remarks."

09:40 - 09:55 Professor David FitzPatrick, MRC Human Genetics Unit "Eye Development and Degeneration; Setting the Scene."

09:55 - 10:20 Dr Ruth Ashery-Padan, Tel-Aviv University, Israel   "Investigating the transitions from multipotent precursors to stably differentiated cell types of the eye."

10:20 - 10:45 Prof. Steve Wilson, University College London, UK
"Genetic analysis of eye development in health and disease in zebrafish."

10:45 - 11:00 Dr Joe Rainger, The Roslin Institute, UK
"Optic fissure closure in the embryonic chick"

11:00 - 11:30 COFFEE

 

QUANTITATIVE TRAIT MEASURES AND GENETICS

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11:30 - 11:55 Prof. Paul Foster, University College London, UK
"The UK Biobank Eye and Vision Consortium."

11:55 - 12:20 Mr Praveen J Patel, Moorfields Eye Hospital, UK
"Macular Optical Coherence Tomography in Health and Disease: Analysis of the UK Biobank OCT dataset."

12:20 - 12:30 Dr Stefan Greyer, Medical University of Vienna, Austria
"Genetic eye abnormalities detected in Deciphering the          Mechanisms of Developmental Disorders (DMDD)"

12:30 - 12:40 Dr David Mansfield, NHS Greater Glasgow andClyde, UK
"RPE needs RGR, Choroid needs RPE, RPE slides away."

 

12:40 - 14:00 LUNCH AND POSTER VIEWING

 

PHYSIOLOGY & MECHANISMS OF GENETIC DISEASE

14:00 - 14:25 Prof. Samuel G. Jacobson, University of Pennsylvania, USA
"Clinical phenotyping of retinal disease."

14:25 -14:50 Dr Toby Hurd, MRC Human Genetics Unit, UK
"Genetic dissection of the molecular mechanisms underlying        retinitis pigmentosa type II.

14:50 - 15:15 Prof. Graeme Black, University of Manchester, UK
"Genetic testing for inherited opthalmic disease."

15:15 - 15:40 Prof. Andrew Webster, Moorfields Eye Hospital, UK
"The use of clinical and electrophysiological data in understanding genetic retinal disease."


15:30 - 16:00 COFFEE

 

POSTER AND PLENARY

16:00 - 16:25 Prof. Mike Cheetham, University College London, UK
"iPSC modelling of inherited retinal disease to understand mechanisms and develop therapies."
16:25 - 16:40 Dr Shipra Bhatia, MRC Human Genetics Unit, UK
"Testing eye disease- associated regulatory variants in vivo in zebrafish."
16:40 - 17:30 Prof. A T Moore, University of California at San Francisco, USA
"Light at the end of the tunnel: towards therapy for childhood retinal disease."
17:30 - 18:00 Prof. Veronica van Heyningen, MRC HGU and UCL, UK
"Alan Wright’s career in eye research."                                                             

18:00 - 19:30 RECEPTION

September 5, 2017

THE GENETIC BASIS OF AGE RELATED
MACULAR DYSTROPHY

09:30 - 09:55 Prof. Caroline Klaver, Eramus Medical Centre, Netherlands
"AMD epidemiology: patient and clinician perspective."
09:55 - 10:20 Dr Anand Swaroop, National Eye Institute, USA
"Post-GWAS insights into biology and therapy of AMD."
10:20 - 10:45 Dr Simon Clark, University of Manchester, UK
"Factor H related proteins in AMD pathogenesis."
10:45 - 11:00 Dr Chloe Stanton, MRC Human Genetics Unit, UK
"C1QTNF5 mutations in in late-onset retinal degeneration."
11:00 - 11:30 COFFEE

 

THERAPEUTIC APPROACHES TO GENETIC DISEASE: PART I

11:30 - 11:55 Dr Jane Sowden, University College London, UK
"Stem cells for retinal therapy."
11:55 - 12:20 Prof. Robin Ali, University College London, UK
"Gene therapy for retinal disorders: a wealth of new strategies."
12:20 - 12:35 Dr Roly Megaw, MRC Human Genetics Unit, UK
"Modelling X-linked retinitis pigmentosa for development of therapeutics."                                                                             12:35 - 12:45 Almar Neitler, MRC Centre for Regenerative Medicine, University of Edinburgh, UK                                            " Establishing a model for macular degeneration using CRISPR/Cas9 gene editing and human induced pluripotent stem cells."                                                                                           12:45 - 12:55 Emma Pead, Centre for Clinical Brain Sciences, University of Edinburgh, UK                                            "Assessing neurodegeneration of the retina and brain with ultra-  widefield retinal imaging."


12:55 - 14:10 LUNCH AND POSTER VIEWING

THERAPEUTIC APPROACHES TO GENETIC DISEASE: PART II

14:10 - 14:35 Prof. Eberhart Zrenner, Institute for Ophthalmic Research, University of Tübingen, Germany
"Developments in electronic visual prosthetics."
14:35 - 15:00 Prof. Don Zack, Johns Hopkins University, USA
"High Content Screening with Primary and Human Stem Cell-        Derived Retinal Neurons to Identify Candidate Molecules for theTreatment of Retinal Degeneration and Glaucoma."          15:00 - 15:15 Dr Pleasantine Mill, MRC Human Genetics Unit, UK
"Eye Development & Degeneration: putting it in perspective."

15:15 - 15:45 COFFEE


PATIENTS

15:45 - 17:45 Panel Discussion: Developments in diagnosis and treatment options in human eye disease for patients and their families, support staff and carers.