Research Update from Dr Moosajee

Dear MAC families,

Happy belated new year and I hope you are all keeping well. I wanted to tell you about some of the latest research projects that you may want to get involved in this year.

My name is Dr Mariya Moosajee, I am a Consultant Ophthalmologist at Moorfields Eye Hospital and Great Ormond Street Hospital for Children in London. I specialise in the genetics of developmental eye defects such as MAC. I also lead a research team at UCL Institute of Ophthalmology, London, where I am trying to understand the molecular mechanisms causing MAC and developing potential treatments that may be applicable in the future for patients and their families.

Find out your genetic diagnosis through the 100,000 Genome Project

Are you still waiting for your genetic result? Have you had genetic testing yet?

The Department of Health are funding genetic testing for all MAC patients and families. We can screen your whole genetic code (genome) including all 3 billion letters of your DNA and 20,000 genes to try to identify the cause of your condition.  

This study is due to end in August 2018, so if you are interested, please email or call us as soon as possible using the contact details below to arrange a visit for genetic testing.

Why does MAC affect one or both eyes? Why are there differences in the same family?  

My research team are trying to answer these questions. By doing so, we may be able to identify protective genetic factors that we can take advantage of to develop treatments or prevent more severe disease.

If you are affected with MAC in just one eye, with no other health problems please do get in touch.

Equally, if your family has members with different features of MAC, then please do email me.

We need your help to advance our knowledge and understanding of MAC. We cannot do this without you.

Please contact us if you want genetic testing, to take part in any research or have any questions. We will be happy to help you!

Dr Mariya Moosajee Consultant Ophthalmologist mariya.moosajee@moorfields.nhs.uk

Miss Samantha Lawrence Research Coordinator samantha.lawrence@moorfields.nhs.uk

Genetics Department, Moorfields Eye Hospital, 162 City Road, London, EC1V 2PD, Tel: 0207 566 2265