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Prof Pagotto explores the MC4R pathway as a key signalling pathway responsible for regulating hunger, food intake and energy expenditure, and how mutations in specific genes have been shown to cause hyperphagia and early-onset obesity. He also discusses recognising the cardinal symptoms of rare MC4R pathway diseases, the most appropriate genetic and clinical diagnostic approach, and patient care for those living with rare genetic variants in the MC4R pathway at ECE 2023
