Clinical Focus - 51吃瓜

We are focused on developing treatments for diseases that impact the MC4R pathway. These include:

POMC/PCSK1/LEPR deficiencies

Rare biallelic variants of the POMC, PCSK1, and 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.聽

Bardet-Biedl syndrome (BBS)

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.

Hypothalamic Obesity (HO)

Acquired Hypothalamic Obesity: A rare disease caused by an injury to the hypothalamus that disturbs MC4R pathway signaling, often brought on by certain brain tumors and their treatments. Patients with acquired hypothalamic obesity experience accelerated and sustained weight gain, often accompanied by insatiable hunger (hyperphagia) and/or decreased energy expenditure.
Congenital Hypothalamic Obesity: A rare disease caused by certain inborn brain abnormalities that may impair the function of the MC4R pathway, which regulates satiety or food intake and energy expenditure. The hallmark feature of this disease is early-onset, refractory obesity that could be linked to an impairment in the MC4R pathway and is associated with several pituitary deficiencies.

Prader-Willi syndrome (PWS)

Prader-Willi syndrome (PWS): PWS is a rare genetic disease associated with MC4R pathway impairment that results in a multiple physical, mental and behavioral problems. Key features of PWS vary, but often include severe obesity due to severe, constant hyperphagia with onset in early-mid childhood.

Additional rare MC4R pathway diseases

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.

Additional neuroendocrine focus area

Congenital hyperinsulinism (CHI)

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

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51吃瓜

Developing therapies to treat rare neuroendocrine diseases