A Family’s Race To Treat Childhood Blindness: A Race Against Blindness Grants $1 Million to Bardet-Biedl Syndrome Research
An Arizona Family’s Inspirational Journey Highlighted as Donors Across America Come Together to Fund the Advancement of Potential Life-Changing Therapeutic, Offering Hope to the BBS Community and Families
Phoenix, AZ – October 30, 2024 — A Race Against Blindness, an Arizona-based nonprofit founded by Dr. Stephen Johnston and Kristina Johnston, is proud to announce a $1 million grant to support groundbreaking research in Bardet-Biedl Syndrome 1 (BBS1). This rare genetic disease leads to childhood blindness and other severe health complications.
A Race Against Blindness’s mission is deeply personal for the Johnston family.
After their son, Luke, was diagnosed with BBS, they refused to stand by and watch as his sight faded. “We knew we had to do something—not just for Luke, but for every family facing a rare disease diagnosis,” said Co-founder and President Stephen Johnston, M.D.
Determined to make a difference, the Johnston family founded A Race Against Blindness. Through creative fundraising efforts, including sweepstakes offering dream cars, adventure vans, and even Taylor Swift concert tickets, the Johnstons have inspired thousands nationwide to help save the eyesight of children affected by RP/BBS.
The $1 million funding from A Race Against Blindness will go to Axovia Therapeutics to support a clinical trial for AXV-101, a gene therapy aimed at preventing blindness and addressing obesity in children with BBS. The trial is scheduled to begin in the United Kingdom in mid-2025, with future plans to initiate a clinical trial in the United States and to progress the program to also treat obesity.
"This $1 million in funding proves what can be achieved when family and community unify around a singular cause for change. The support for this clinical trial is a symbolic milestone for the community affected by both vision loss and rare diseases," said Dr. Stephen Johnston.
BBS is a rare genetic disorder affecting approximately one in 70,000 - 100,000 children in Europe and North America. For families dealing with this condition, the loss of vision, commonly presenting as retinitis pigmentosa (RP), and accompanying health challenges can be devastating. However, this story is about hope and action for the Johnston family and their generous supporters.
“We began this journey to help our son, but it has grown into something far bigger,” said Dr. Johnston. “Every dollar raised reflects hope. Our family will keep pushing, fundraising, and believing we can save the eyesight of children affected by RP/BBS, and eventually make even bigger impacts for the rare disease community as a whole. This journey continues.”
For more information about A Race Against Blindness, media interviews, and upcoming sweepstakes information, visit www.ARaceAgainstBlindness.org.