Minnie's Miracle Fund set up by Minnie's family in 2019 raised money to fund research into her condition. In 2021 we evolved into Team CRB1 as we found more families with members who share the same rare genetic condition. Now we are a small group of families raising money together for our kids - Minnie, Mollie, Dimi, Alfie, Jaxon, Alessia and Spencer.

Our kids have a rare genetic condition caused by a mutation in their CRB1 gene which affects their vision, some are registered blind and all have visual impairments.

CRB1 is a gene that makes a key protein needed for good vision. When mutations in this gene occur, it can result in a range of eye conditions that cause patients to progressively lose their sight, like Leber congenital amaurosis, retinitis pigmentosa, and cone-rod dystrophy.

These conditions can be life-changing and affect millions of people worldwide including the family members of Team CRB1.

For a number of years, scientists have been investigating the CRB1 gene and the conditions it can cause. To date, over 300 genetic mutations in CRB1 have been identifed, but researchers have no clear understanding of how these mutations link to the different symptoms and outcomes that patients experience.

As a result, there are currently no cures or treatments for any of these conditions.

Professor Mariya Moosajee and her team at UCL’s Institute of Ophthalmology (IoO) are on the cusp of changing this. At the forefront of vision research, they are now turning their attention to unpicking CRB1.

To do so, they plan to grow ‘retinas in a dish’ that have different types of CRB1 mutations and examining their effects.

Over a two-year period, using skin cells from patients with Leber congential amarosis, retinitis pigmentosa and cone-rod dystrophy, her group will culture retinas with various gene alterations. Through analysing these retinas and the cells and molecules that are present, Professor Moosajee’s team will gain unparalleled insight into how different mutations affect the developing eye, how they cause certain conditions and, most importantly, how therapies could overcome these conditions.

Please help us to get this project up and running, help our children see, stop them going fully blind and make a real difference!