HYBRID EVENT: You can participate in person at Boston, Massachusetts, USA or Virtually from your home or work.
Bardet-Biedl Syndrome (BBS) is a rare, genetically inherited disorder that primarily affects multiple organ systems in the body. It is characterized by a combination of various symptoms, including obesity, vision problems (such as retinal degeneration leading to blindness), kidney abnormalities, polydactyly (extra fingers or toes), intellectual disability, and abnormalities in the genitalia. Individuals with Bardet-Biedl Syndrome often experience progressive vision loss due to degeneration of the light-sensitive tissue at the back of the eye (retina), leading to night blindness and eventual blindness. Obesity is a common feature, often developing during childhood and persisting throughout life. Kidney abnormalities can range from structural issues to functional problems, potentially leading to kidney failure in some cases. BBS is caused by mutations in various genes, affecting ciliary function—a cellular structure crucial for diverse physiological processes. Due to its varied and complex nature, management of Bardet-Biedl Syndrome involves a multidisciplinary approach, focusing on addressing individual symptoms and providing supportive care to improve the quality of life for affected individuals. Regular monitoring and specialized care are essential for managing the condition and its associated complications.
