Testing the genome in ophthalmology – what’s new?
This course will provide an overview of genetics and genomics for IED: an up to date overview of genetics of IED including inheritance, types of mutations, genetic testing, genomics, consent for WGS, variant interpretation, how to interpret a genetic report and clinical management/counselling. We will discuss the benefits of genetic testing for IED, advice on who to test, why, when and how in the era of genomic medicine. We will provide a guide on how to manage our genetic patients and how to access guidance and support.
The course has been developed and led by world leading experts in genetic eye disease based at Moorfields Eye Hospital, UCL Institute of Ophthalmology and Great Ormond Street Hospital for Children, and lectures delivered primarily by clinicians, molecular geneticists and genetic counsellors who have well established expertise in their topics having made significant advancements in their respective fields.
- To bring you up-to-date with the latest advances in genetic eye disease and how best to manage your patients
- To provide practical advice on how to undertake WGS and other forms of genetic testing (consent to reporting)
- To enable understanding of the genetic report including variant interpretation (ACMG/AMG guidelines)
- Case studies to demonstrate importance of variant interpretation and multidisciplinary team discussion
- To provide knowledge of future developments in the field including therapeutics
This is a one day course that will comprise 10 sessions, each of 30-45 minutes in length. The following topics will be covered:
- Eye disease – what to test and what not to test.
- Modern genetic testing – under the hood.
- Inherited eye disease
- Paediatric ophthalmology
- Structural Eye disease
- Optic neuropathy
- Consent and ethics
- Understanding the results
- Personalised medicine – the future
- Gene-directed treatments
The course will take place live online on Zoom.
Please click here to view the programme.
Who should attend
This course is intended for Ophthalmologists (including consultants, trainees, fellows, non-training grades), clinical geneticists with an interest in inherited eye disease, genetic counsellors, clinical scientists, optometrists.
The course carries 7 CPD learning hours/points with The CPD Certification Service.
In order to join the course online, you will need access to a computer (laptop or desktop) with a webcam and microphone.
Next course date
To be notified of the next course date please join the waiting list.