Research into MACS conditions
What’s in a gene? Investigating the cause of MACS conditions
Having a child with a MACS condition can be devastating. However, with the help of organisations like MACS and the support of our family and friends, we do the best we can to come to terms with our child’s condition and give them all the love and support that they need to live in a sighted world.
We want to know why has this happened to our child, if they will be at risk of other health conditions as they grow, and if it will affect any other children we, or they, may have in the future.
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.
agWe hope that by providing funding to enable scientific research, we will be closer to finding out the answers to these important questions. MACS is currently supporting the work of specialist eye consultant and geneticist Professor Nicola Ragge. Professor Ragge has worked with MACS for over 10 years and, with fellow researchers around the world, has been responsible for the discovery of many genes linked to Microphthalmia, Anophthalmia and Coloboma. Her research is continuing and she has recently become interested in some new genes involved in the Vitamin A pathway. This could be an exciting area for future therapies.
MACS has agreed to support Professor Ragge’s work by contributing towards the costs of a part-time Family Co-ordinator based at Oxford Brookes University. This role will be 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. For more information and to find out how to get involved, please contact Dorine Bax at firstname.lastname@example.org
You can make NHS appointments to see Professor Nicky Ragge at:
Regional Clinical Genetics Service, Birmingham Women's NHS Foundation Trust, Mindelsohn Way, Edgbaston, Birmingham B15 2TG
Professor Ragge also operates a private clinic offering similar services in Oxford. Patients can self-refer or ask for a referral from their GP.
Oxford Private Medical Practice, Mayfield House, 3rd Floor, 256 Banbury Road, Summertown, Oxford OX2 7DE.
Tel: 01865 423 425/ Email: email@example.com