hrp0097fc8.2 | Fat, metabolism and obesity 2 | ESPE2023
P. Goldstone Anthony
, Dominguez-Riscart Jesus
, Rosaria Umano Giuseppina
, Pinhas-Hamiel Orit
, Yildiz Melek
, Manco Melania
, Sleiman Patrick
, Savoie Charles
, Giri Dinesh
, Argente Jesús
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...