We are committed to discovering and developing treatments for rare MC4R pathway diseases. This pathway plays a critical role in how the brain regulates hunger and energy expenditure (calorie burning).
MC4R pathway function can be disturbed by certain gene variants or injury to the brain region known as the hypothalamus. Different from more common causes of obesity, gene variants or injury to the hypothalamus can lead to certain types of obesity. These types of obesity are typically characterized by hyperphagia—an insatiable hunger that leads to abnormal food-seeking behaviors (e.g., waking up at night to find food, eating food others left behind, and, in severe cases, sneaking, stealing, or hiding food)—and early- or rapid-onset, severe obesity.
Overview of rare MC4R pathway diseases
Bardet-Biedl syndrome (BBS)
Bardet-Biedl syndrome (pronounced BAR-day BEED-el, or BBS) is a ciliopathy, and a rare MC4R pathway disease with a variety of symptoms. These symptoms, which can vary from person to person and change over time, typically impact multiple organ systems, and may include hyperphagia and early-onset, severe obesity caused by disturbance to the MC4R pathway.
Additional rare MC4R pathway diseases
Variants in one or more of several genes associated with the MC4R pathway may impair its function, leading to hyperphagia and early-onset, severe obesity.