Talks and Exhibitors
Welcome and introductions
By Professor James Bainbridge
James introduced Stargardt’s Day and that despite there being several umbrella organisations who provide support to people with this condition (e.g. Macular Society, RP Fighting Blindness and Royal Society for Blind Children), we understand from people affected by this condition that there remains a need for more specific support and information about Stargardt’s disease. James highlighted the instrumental role the Stargardt's Panel had played helping to shape the meeting’s agenda and invited attendees to share their thoughts and opinions throughout the day around the topics under discussion. James finished off by expressing that from conversations had earlier that morning, what those in attendance wanted to take away from the meeting were a sense of ‘hope’ and ‘power’.
What does current and future diagnosis and management of Stargardt’s disease look like?
By Professor Andrew Webster
Andrew introduced what Stargardt’s disease is and discussed how doctors diagnose and monitor Stargardt disease in the clinic. Stargardt’s disease impacts central vision. It is caused by spelling mistakes in the ABCA4 gene. It is a recessive condition, meaning you need to have inherited a changed ABCA4 gene from both your parents to develop the condition.
What is already available to help me day-to-day with Stargardt’s disease?
By Dr Michael Crossland
Michael works in the low-vision clinic at Moorfields mostly with children and young adults and discussed some of the apps and vision aids that are available now to help people with low vision. He discussed the importance of making things big, bright and bold so people can more easily visualise them.
Stargardt's Day Panel Discussion
By Bhavna Tailor, Toby Evans, Ruby Luck and Robert McCann & facilitated by Rea Mattocks
The panel explored the life of people with Stargardt’s disease from childhood through to working age; their experiences of diagnosis, the impact of limited treatment options and the effect that Stargardt’s disease can have on daily life, employment and relationships. Eighteen months on from her son’s diagnosis, Bhavna has begun developing a website specifically for people with Stargardt’s disease – a one stop shop giving information on the condition and symptoms, research and sign posting people to where they can get support.
Gene and cell therapies for Stargardt’s disease – where are these at?
By Professor James Bainbridge
James highlighted some of the challenges that need to be grappled with if gene and stem cell therapies are to be of benefit to people with Stargardt’s disease.
The principle of gene therapy is to put back the missing instruction into the cells that need it. In Stargardt’s disease this is a challenge because the ABCA4 gene is large; it is difficult to package it up and reliably deliver it into cells. Gene therapy also requires living cells to work, so in advanced disease where cells have died it is hoped that providing new cells grown from stem cells might be of benefit.
Induced pluripotent stem (IPS) cells for Stargardt’s disease – why recreate Stargardt‘s disease in the lab?
By Dr Anai Gonzalez-Cordero
Stem cells can multiply indefinitely and have the potential to produce any other type of cell in the body, when exposed to the right factors.
IPS cells are generated in a lab from tissue samples donated by patients. By taking a sample of tissue, such as blood, we can reprogramme these cells and turn them into stem cells. By exposing the stem cells to the right factors, we can turn them into the cells found in the retina. We can essentially grow a mini retina in a dish.
These retinas are not suitable to be transplanted into people, but we can learn a lot about the way the cells fit together and interact.
Is there a possibility of a drug therapy for Stargardt’s disease?
By Dr Rupert Strauss
Could there one day be a pill to prevent or slow down the progression of Stargardt’s disease? Rupert discussed some of the research into drug-based therapies for Stargardt’s disease.