Rhythm’s translational research efforts are focused on deepening the understanding of melanocortin-4 receptor (MC4R) pathway-related rare genetic diseases of obesity.
Genetic testing can play an important role in diagnosing many rare genetic diseases of obesity; however some can be diagnosed by clinical features alone (e.g., Bardet-Biedl syndrome). By deepening understanding of the genetics that contribute to severe obesity, we aim to identify certain populations living with rare genetic diseases of obesity that may benefit from targeted therapies.
The Rhythm database enables the detection of gene variants that may contribute to the manifestation of rare genetic diseases of obesity. To help further clarify the clinical significance of these genetic data, we deploy a battery of translational research strategies, including large-scale biochemical screening studies and genetic epidemiological analyses to understand the functional and clinical relevance of observed variants. This is important for understanding the impact on the MC4R pathway.