What is BBS?
Bardet-Biedl (pronounced BAR-day BEED-el) syndrome, also known as BBS, is a rare genetic disease
BBS has a wide range of symptoms
BBS is inherited. It can be passed from parent to child if both parents have variants, or changes, in a BBS gene.
People living with BBS may experience intense, hard-to-control hunger. This feeling is not their fault. Changes in BBS genes can stop a key area of the brain that controls hunger from working properly
The key area of the brain that communicates being hungry or satisfied is known as the hypothalamus
Think of the hypothalamus as a neighborhood within the brain.
In this neighborhood, there are roads that allow trucks to travel to and from the brain. One road is called the melanocortin-4 receptor, or MC4R, pathway.
The trucks on this road deliver messages between the body and the brain. These messages control hunger.
On this road, there is a traffic light, or a BBS gene, that helps guide the trucks to deliver their messages.
What causes hunger and obesity in BBS?
In people living with BBS, the signals that turn hunger “off” don’t work correctly in the brain
When the BBS gene is normal, without a variant (or change), the traffic light works correctly. The road (MC4R pathway) is open, and the trucks can deliver messages to the brain that the body is satisfied and doesn't need more food.
In people living with BBS, the traffic light is broken due to the change in the BBS gene
When the BBS gene has a variant (or change), the traffic light is broken, which causes a traffic jam. The trucks can no longer travel along the road (MC4R pathway) to properly deliver messages to the brain that the body is satisfied and doesn’t need more food. Instead, the body believes that it’s still hungry.
IMCIVREE is the first and only treatment to target an impaired MC4R pathway, a root cause of hunger and obesity in people living with BBS
