85 / 100

Saturday talks

Talk synopsis & speaker profile
 
 

13:00 UNTIL 13:25

Cambridge Rare Disease Network - RAREfest | Dr Mariya Moosajee 1

Dr Mariya Moosajee

How does the eye form and what happens when it goes wrong? 

Talk synopsis: You see the first sign of the developing eye at around 3 weeks of pregnancy. Many genes work together to provide instructions for this complex organ to form so it can process light and help us to see in colour, fine detail and in the dark. If there is a spelling mistake in just one gene it can have catastrophic effects leading to clefts in the eyeball (ocular coloboma), no coloured part of the eye (aniridia) and even no eye developing altogether (anophthalmia). 

Bio: Dr Mariya Moosajee is a Consultant Ophthalmologist in Genetic Eye Disease at Moorfields Eye Hospital and Great Ormond Street Hospital for Children, and a Wellcome Trust Beit Prize Fellow at UCL Institute of Ophthalmology. Her clinical focus is providing genomic medicine to children and adults with all forms of genetic eye disease. She undertakes detailed clinical studies of several diseases to understand the natural history, whilst in the lab, dissecting the molecular basis using zebrafish models and patient’s own retina grown in a dish. She is developing treatment strategies, from drugs to gene therapies, to translate back to her patients.

Click to visit Mariya’s webpage.

WP Feedback

Dive straight into the feedback!
Login below and you can start commenting using your own user instantly

CRDN sign up to newsletter

Sign up to our monthly newsletter packed with news & events. Join our thriving rare disease community.

 

You have Successfully Subscribed!