Today marks Rare Disease Day 2024, a day for raising awareness for patients, families and carers that are affected by rare diseases. A disease is considered rare if it affects less than 1 in 2000 people, and being rarer means, among other things, diseases are harder to diagnose, study and provide care. The majority include genetic conditions, conditions that are caused by mutations to a person's genes that affect how they are expressed.
These genetic diseases also can affect eyesight. Diseases such as Leber congenital amaurosis (LCA), retinitis pigmentosa (RP), Stargardt disease and Usher syndrome all lead to sight loss. Genetic eye diseases are amongst the leading causes of sight loss in working-age adults, and are largely untreatable, though ongoing research is seeking to find cures through genetic therapy, such as one particular variant of RP that is now available on the NHS.
For Rare Disease Day, we spoke to Professor Mariya Moosajee, consultant ophthalmologist and head of the genetic service at Moorfields Eye Hospital, and professor of molecular ophthalmology at UCL Institute of Ophthalmology. Mariya is raising awareness of genetic eye diseases and explaining what services are available for patients diagnosed with them, including genetic tests and the potential to get involved in clinicial trials.
You can watch Professor Moosajee on Youtube:
So, today is rare disease day and I wanted to raise awareness of rare genetic eye diseases on behalf of all the patients and families that I look after. So, at Moorfields, we have specialist clinics that are focused on looking after individuals and families affected by rare genetic eye diseases.
This can be anywhere from newborns that are affected with serious birth eye defects, such as being born without any eyes, through to children who lose their vision in the first 5 years of life, all the way through to adults who can progressively lose their sight until they're blind and there is no treatment or cure available to them.
There are some very rare subsets where there are now treatments. We have the first approved gene therapy on the NHS for a rare inherited retinal disease is caused by mutations in a gene called RPE65. And we're hoping that with further research in our labs here at Moorfields and at UCL, we can develop a lot more genetic based therapies that will really make a difference.
We take a holistic approach to patient’s care. We look after the whole family on their journey. We help to undertake genetic testing so we can find the exact cause of their condition, and then we offer them family support, counselling and the best possible management that will ensure that every individual maximises their potential. We also offer them access to a range of clinical trials through our clinical research facility, and we get patients involved in some of our basic science research at our labs at UCL.
So, if there's an individual or a family that have just found out that they are affected by one of these rare genetic eye diseases it's important for them to know that they're not alone. And that there is a lot that we can do to support them.
A really good source of information is a website called www.gene.vision. it may not be obvious that an individual has a rare disease, but it's important that we should be mindful and aware. And that we show kindness and support to those who need it.
For more information about genetics and inherited diseases, please visit:
29 February 2024