What is Bardet-Biedl Syndrome?
What is Bardet-Biedl Syndrome?
Bardet-Biedl Syndrome, commonly referred to as BBS, is a rare genetic disorder with highly variable symptoms that is categorized as a ciliopathy, or a disease of the cilia. BBS is a genetic condition resulting from a malfunction of the cilia, which is usually caused by mutations in one of more than twenty different genes. The genes affected by the genetic mutations that can cause BBS are the ones that code for the proteins in cilia; these mutations often result in the denaturing of those proteins and therefore inhibits their ability to properly function, so cells cannot properly communicate.
BBS can result in many different symptoms, but it is most often defined by six different features. These featured symptoms include early-onset complications with obesity, intellectual impairments, compromised function of the kidneys, impaired vision or vision loss (retinal degeneration), compromised function of the genitalia (gonad deficiency), and polydactyly (extra digits being located on the feet and hands).
Why support the BBS Foundation?
Currently, Marshfield Clinic Health System is the only health system in the nation that provides comprehensive care for patients with BBS1. Although this condition is rare, with a prevalence of around 1 in 140,000-160,000 throughout North America, there are still thousands of individuals in the United States alone that are affected by the condition. There is no true cure to help these affected people, however, there are many therapies that have been adapted to help BBS patients manage their symptoms. The lack of support for the Bardet-Biedl Syndrome Foundation results in many of the individuals affected by the condition being unable to receive the proper support and help that they both need and deserve. Donating to the Bardet-Biedl Syndrome Foundation will provide funding for more research to aid in future treatments and to provide the necessary care to those currently affected by the condition. Research is ongoing into understanding the basic mechanisms at the cellular level that ultimately cause BBS. This research will provide clues to develop future treatments.
Over 20 ciliapathies have been identified and many more are still to be discovered; throughout the world, they affect around 1 in 1,000 people. Because of this, supporting research into treatments for Bardet-Biedl Syndrome in turn will also help the many other individuals affected by both BBS and many of the other discovered ciliopathies.