ESPE Abstracts

The melanocortin-4 receptor (MC4R) pathway is critical for the regulation of hunger, energy balance, and weight regulation. Individuals who carry variants in MC4R pathway genes may present with early-onset severe obesity and hyperphagia. Historically, genetic testing in individuals with severe obesity has been limited. The Rare Obesity Advanced Diagnosis™ genetic testing program aims to enhance access to genetic testing for European individuals with suspected rare geneti...

Introduction: Patients with genetic variants in the melanocortin-4 receptor (MC4R) pathway may present with hyperphagia and early-onset obesity. Increasing awareness of genetic testing could improve diagnosis and identification of patients who might benefit from novel precision therapies. Moreover, the frequency of specific genetic variants in this population is currently unknown. The Rare Obesity Advanced Diagnosis ™ (ROAD) genetic testing prog...