Developing therapies to treat rare
neuroendocrine diseases

Rare biallelic variants in the POMC, PCSK1, LEPR genes can result in deficiencies of certain proteins and enzymes that help the body regulate food intake, resulting in insatiable hunger (hyperphagia) and early-onset obesity. 

BBS is a syndromic ciliopathy, and a rare, potentially underdiagnosed genetic disease that leads to a variety of clinical characteristics, including insatiable hunger (hyperphagia) and early-onset obesity, causing profound challenges for patients and their caregivers.

aHO is an accelerated and sustained weight gain resulting from physical injury or structural abnormality of the hypothalamus with MC4R pathway disruption and other hypothalamic functional impairment.

PWS is a rare genetic disease that results in a number of physical, mental and behavioural problems. A key feature of PWS is a constant sense of hunger that usually begins at about 2 years of age. PWS is estimated to affect approximately 400,000 people worldwide. There are currently limited therapeutic options that effectively reduce the extreme hyperphagia and address low resting energy expenditure associated with PWS.

Rare, highly impactful variants in just one of several different genes associated with the MC4R pathway can result in loss of function in that pathway, potentially leading to insatiable hunger (hyperphagia) and early-onset severe obesity.

A rare disease that causes the body to produce too much insulin, resulting in persistent hypoglycaemia (low blood sugar) that can cause seizures, coma, neurological damage, and even death.