An Arizona couple turned a devastating diagnosis for their son into an unusual fundraising effort, donating a custom adventure van to launch a charity that says it has now paid out $6.1 million in research grants for inherited retinal diseases. Founded by physician Stephen Johnston and his wife, nurse Kristina Johnston, the organisation grew out of their son Luke’s 2020 diagnosis with Bardet-Biedl syndrome, a rare genetic condition that can cause progressive vision loss, according to A Race Against Blindness. Its latest funding milestone includes $5.1 million committed to an experimental gene-therapy programme and $1 million for research into treatments that could benefit people with multiple inherited retinal conditions.
By the end of 2024, the organisation said it had paid out $3 million in research grants. The AXV-101 programme is intended for people with BBS1-related disease.
Stephen Johnston, who is a physician, and Kristina Johnston, a nurse, said they were unfamiliar with the condition before their son’s diagnosis. The first van fundraiser helped establish a model that it subsequently used for other vehicle and cash-prize campaigns, according to the charity’s account. For the Johnstons, the diagnosis brought uncertainty about what Luke’s future would look like and what could be done to protect his vision. They began looking into the research needed to develop treatments and concluded that funding was a major obstacle. Their response was to establish A Race Against Blindness, with the aim of supporting research while raising awareness of inherited retinal diseases that receive relatively little public attention. Gene therapy seeks to address disease by introducing, replacing or modifying genetic material. In inherited retinal conditions, researchers are investigating whether such approaches can preserve or improve vision by targeting the underlying genetic defect. However, an investigational treatment is not the same as an approved therapy, and clinical studies are necessary to establish its safety and effectiveness. Its progress does not mean that a treatment or cure is available for all people with Bardet-Biedl syndrome.
The charity, which is registered as a US 501(c)(3) public organisation and is based in Gilbert, Arizona, says its aim is to accelerate research into diseases that can cause children to lose their sight. In 2020, Luke was diagnosed with Bardet-Biedl syndrome (BBS), a genetic disorder that affects several parts of the body. Its financial and grant history is available through its website, while its nonprofit registration and tax filings can be checked through ProPublica’s Nonprofit Explorer. Its symptoms can include retinal degeneration, obesity, kidney abnormalities and other complications, although their severity varies between individuals. The condition can cause retinitis pigmentosa, in which light-sensitive cells in the retina progressively deteriorate. Night vision may be affected first, followed by peripheral vision and, in some cases, substantial sight loss. The US National Library of Medicine’s MedlinePlus Genetics notes that BBS is associated with changes in several genes, including BBS1 and BBS10.