About this event

  • Date and time Thu 11 Nov 2021 from 6:00pm to 7:45pm
  • Location Online
  • Organised by Ophthalmology, Medical Genetics

This webinar will provide insights and updates on ophthalmic genetics to ophthalmologists. Specialist speakers will educate delegates on how to order genetic testing, how whole genome sequencing will improve patient care, and will discuss the genetic therapies in development including limitations and new technology. 

During this webinar you will:

  • Understand the process for genetic testing patients 
  • Discover how genomic medicine can impact patients with genetic eye diseases
  • Learn the treatments under development for genetic eye diseases
  • Understand what to do when patients are genetically unsolved following testing and which clinical trials may benefit them

The webinar will interest all ophthalmologists across the specialty as well as those with a particular interest in the field. This webinar has CPD accreditation.

We would like to thank our sponsor Novartis for their support of this meeting. Please note that the scientific programme and content has not been influenced in any way by the sponsor.

This webinar is available for on-demand viewing. The webinar recording will be available for registered delegates up to 60 days after the live webinar broadcast via Zoom. The link will be sent 24 hours after the webinar takes place. 

Join in the conversation online by using #RSMLive 
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Registration for this webinar will close 2 hours prior to the start time. Late registrations will not be accepted.

Key speakers

Elena Schiff

Genetic Counsellor, Moorfields Eye Hospital

Speaker's biography

Elena Schiff has worked as a genetic counsellor at Moorfields Eye Hospital for almost 3 years, working with adult and paediatric patients with Mendelian inherited eye diseases. She read Genetics at UCL (BSc) then went on to do an MSc and PhD in Hebrew University in Jerusalem. She has worked on the molecular diagnosis of Fragile syndrome carriers and on researching isodisomy in a child with cystic fibrosis (MSc) and then on the genetics of Hunter syndrome (PhD). She has taught Medical Genetics modules at undergraduate and postgraduate level at London Metropolitan University and has a PGCert in Higher Education. She then worked in UCL on complex disease researching the genes that predispose to inflammatory bowel disease through rare variant analysis of exome sequencing data. She has contributed to over 20 papers including 7 as first author.

Mariya Moosajee

Professor Mariya Moosajee

Moorfields Eye Hospital and University College London

Speaker's biography

Professor Mariya Moosajee is a clinician scientist, she is a Consultant Ophthalmologist specialising in Genetic Eye Disease at Moorfields Eye Hospital and Great Ormond Street Hospital for Children, Professor of Molecular Ophthalmology at UCL Institute of Ophthalmology, and Group Leader of Ocular Genomics and Therapeutics at the Francis Crick Institute in London. She graduated with First Class Honours in Biochemistry and Molecular Genetics in 2000, Medicine (MBBS) in 2003, and was awarded her PhD in Molecular Ophthalmology in 2009 all from Imperial College London. She has been awarded over 30 international and national prizes for her research and has over 100 peer-reviewed scientific publications. Her clinical focus is providing a genomic ophthalmology service for children and adults affected with genetic eye disease. Her clinical research involves deep phenotyping and natural history studies on molecularly confirmed rare disease patient cohorts to understand disease progression and define outcome metrics for clinical trials. In the laboratory, she is advancing our understanding of the molecular basis of ocular maldevelopment and inherited retinal dystrophies, using zebrafish disease models and human induced pluripotent stem cell derived retinal organoids. This permits the identification of potential therapeutic targets for development of treatment strategies, including small molecule drugs and non-viral gene therapy. Professor Moosajee is the President of the UK Eye Genetics Group, Research Lead for the Education Committee and elected member of the Academic Committee of the Royal College of Ophthalmologists, and President of Women in Vision UK.

Professor Ian Murdoch MacDonald

Emeritus Professor, University of Alberta

Speaker's biography

Ian M. MacDonald is a clinical geneticist and ophthalmologist. After beginning his professional career in Ottawa, Canada as an Ontario Ministry of Health Career Scientist, he moved to Alberta in Western Canada where he served 4 terms as Chair of the Department of Ophthalmology and Visual Sciences of the University of Alberta, Edmonton. He was Branch Chief, Ophthalmic Genetics and Visual Function, at the National Eye Institute of NIH for 2 years before returning to Edmonton in 2009. He maintains an active clinical practice and translational research laboratory. Dr. MacDonald’s area of clinical and research interest is inherited ocular disorders.

Mr Jay E Self

Mr Jay E Self

Associate Professor and Consultant Ophthalmic Surgeon, University of Southampton

Speaker's biography

Mr Jay Self BM FRCOphth PhD leads a research group at the University of Southampton with an interest in ophthalmic genetics, nystagmus and albinism. He trained in Southampton and Manchester and completed an MRC Clinical Research Training Fellowship (PhD) in molecular genetics in 2009. He is the national NIHR paeds/neuro CSG lead, member of the RCOphth genomics group, paediatric and academic sub-committees and is ambassador or advisor to 5 research charities. He leads regional clinical services for oculo-genetics, paediatric cataract and nystagmus. He is PI or CI for a number of clinical paediatric ophthalmology studies and is a section editor or regular reviewer for 9 journals.


View the programme

Welcome and introduction

Professor Mariya Moosajee, Moorfields Eye Hospital and University College London

Genomic medicine for inherited eye disease

Professor Mariya Moosajee

How can I organise genetic testing for my patient?

Elena Schiff, Genetic Counsellor, Moorfields Eye Hospital

Now we have Luxturna, what's next on the horizon?

Professor Ian Murdoch MacDonald, Emeritus Professor, University of Alberta

What happens if we can’t find a molecular cause

Mr Jay E Self, Associate Professor and Consultant Ophthalmic Surgeon, University of Southampton

Panel discussion
Close of meeting




Disclaimer: All views expressed in this webinar are of the speakers themselves and not of the RSM.

Special rates for difficult times 
The RSM wishes to offer healthcare professionals continued learning opportunities during the coronavirus pandemic. The RSM’s COVID-19 online events are available free of charge, while there will be small charges to register for other online education. These fees will enable the RSM to continue its programme of activities and will apply during the course of the pandemic. 

Registration for this webinar will close 2 hours prior to the start time. Late registrations will not be accepted.

Webinar recordings will be available for registered delegates up to 30 days after the live webinar, via Zoom. 

This webinar will be recorded and stored by the Royal Society of Medicine and may be distributed in future on various internet channels.

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