Rocky Ride VI: Accelerating BBS Research

Diagnosed with Bardet-Biedl Syndrome (BBS) as an infant, Theo Lehmann is a 17-year-old high school junior attending his father’s magnet school, the Science Leadership Academy in Philadelphia. BBS is a rare syndrome that affects about 1 in 250,000 people in North America. People with BBS have a defect in the way their cells communicate with each other. It's a complex syndrome with a wide range of symptoms and a lot of variation from person-to-person. But usually people with BBS have trouble developing strength, have impaired kidney function, learning challenges, hampered senses and vision loss.

Yet despite these challenges, Theo thrives. Theo is an avid reader, artist, and scholar with a 3.6 GPA in high school. He loves a good pun and has a wide range of musical tastes – current faves include Frank Sinatra, Gloria Gaynor, and Rihanna. 

BBS affects his vision and coordination, but despite that, Theo runs with his school's Students Run Philly Style running club. Over the four years of the Rocky Ride Team, our family has raised more than $10,000 for the Bardet Biedl Family Foundation, and we hope you can join us or support us as we look to raise money to help families with BBS.

Research on BBS has advanced rapidly in the last 20 years, when the first gene was linked to the syndrome. Now more than 28 genes have been identified and we know why these genes cause the symptoms they do. But developing therapies still requires much more research. 

The Clinical Registry Investigating Bardet Biedl Syndrome, or CRIBBS, is crucial to that research – and money from the Rocky Run and Rocky Ride helps fund the registry. The registry has played an essential role in accelerating BBS research – and is key to unlocking and potentially solving some of the syndrome’s mysteries. The registry gathers clinical information from people with BBS so that researchers can better understand how the syndrome works. Without a central registry. it would simply be too expensive to track down information on this rare disease. The first treatment for a BBS symptom—excessive hunger and weight gain—is nearing full approval by the FDA. Two different organizations are pursuing gene therapy possibilities for BBS (funded in part by the Rocky Ride), with very promising results in mice.

With such a rare disease, the help of our tiny community is crucial in moving this transformative science forward -- and will likely have an enormous impact on Theo's life. 

Whether biking or running, we appreciate the power of this community to come together to build a better future for Theo and hundreds of others with BBS!

The Bardet Biedl Syndrome Foundation is a registered 501(c)3 non-profit dedicated to improving the lives of families affected by Bardet Biedl Syndrome through information, support and by advancing research and therapy. All donations are tax deductible and support research and programs to support families affected by BBS.