Professor Nicola Ragge, Oxford Brookes University

MACS conditions are likely to be caused by a disruption in the way the eye develops in the baby during early pregnancy.  This can be due to an alteration in an important gene for eye development, environmental factors - such as drugs or infection in pregnancy - or a combination of the these things. However, while some families have been given a genetic diagnosis, others are no closer to knowing why their child has been affected by MACS and its related conditions.

MACS is supporting the work of specialist eye consultant and geneticist Professor Nicola Ragge, who has been responsible for the discovery of many genes linked to Microphthalmia, Anophthalmia and Coloboma. We have previously contributed towards the costs of a part-time Family Co-ordinator based at Oxford Brookes University who is responsible for recruiting and liaising with families involved in the research and keeping them up to date on progress and findings in relation to their specific cases.

Learn more or get involved

For more information and to find out how to get involved, please contact Professor Ragge's research coordinator, Dr Dorine Bax at eye.genetics.study@brookes.ac.uk or call 01865 534923 or 07484 543575.

Dr Mariya Moosajee, University College London 

MACS also work closely with Dr Mariya Moosajee, a Consultant Ophthalmologist at Moorfields Eye Hospital and Great Ormond Street Hospital for Children in London. She specialises in the genetics of developmental eye defects such as MAC. Mariya is our MACS Medical Advisor and always happy to receive queries or questions from families. She leads an active research team at UCL Institute of Ophthalmology, London, where she is trying to understand the molecular mechanisms causing MAC and developing potential treatments that may be applicable in the future for patients and their families.

Mariya was awarded a Wellcome Trust Beit Prize Fellowship in 2017 to undertake a 5-year project to unravel the molecular complexity behind ocular maldevelopment. The goals of this study are to determine the genetic causes of MAC whilst carefully detailing the disease characteristics over time to see if any specialist care is needed to minimise associated health problems. Another aim is to identify chemical changes, called methylation, in our DNA that influence genes being switched on or off at crucial points during normal eye development, to form a reference guide for comparison with patients. Using this information, a 3D model of the developing eye will be made from stem cells derived from patient’s skin to investigate changes in genes that cause ocular maldevelopment. This will allow us to develop new therapies, improve diagnositic rates and provide informed genetic counselling, therefore improving care pathways for patients and families.

Learn more or take part

If you are keen to learn more about Mariya's research or want to take part, please email her directly on m.moosajee@nhs.net or call her research coordinator, Samantha Lawrence on tel: 0207 566 2265 or email samantha.lawrence1@nhs.net.

For more information, please visit www.mariyamoosajee.com, follow her on twitter @MariyaMoosajee or on her facebook page DrMariyaMoosajeeLab (https://www.facebook.com/DrMariyaMoosajeeLab/).