Our science
& research
Our science
& research
Science & Research
Our research
In pursuit of innovation, we bring together researchers, clinicians, and state-of-the art technologies to deliver translational research that deepens the collective understanding of rare melanocortin-4 receptor (MC4R) pathway diseases.
Our approach to these diseases is built upon a foundational DNA sequencing infrastructure with samples from more than 45,000 individuals living with severe obesity, one of the largest databases of its kind. This unique resource fuels our focus and provides cutting-edge insight into the science of rare MC4R pathway diseases.
Our DNA sequencing data
By deepening our understanding of the genetics contributing to severe obesity, we aim to identify specific populations living with rare MC4R pathway diseases that may benefit from precision medicines.
Our DNA sequencing database enables the detection of gene variants that may contribute to the development of rare MC4R pathway diseases. To confirm the clinical significance of these genetic data, we deploy innovative translational research strategies, including large-scale biochemical screening studies and genetic epidemiological analyses, to understand the functional and clinical relevance of observed gene variants.
We know variants in genes associated with the MC4R pathway can impair the function of that pathway and result in rare MC4R pathway diseases.1 Our team has identified more than 100 genes with potential connections to the MC4R pathway. By using a scoring system adapted from the National Institutes of Health ClinGen gene-disease clinical validity framework, we ranked these genes and their relevance to the function of the MC4R pathway.
EU medical information
Do you have a question concerning a Rhythm Pharmaceuticals product, or would you like more information about MC4R pathway diseases and their treatment?
Contact Rhythm Medical Information, who will provide specific, evidence-based and up-to-date medical information.
References
Fonseca ACP, et al., J Diabetes Complications. 2017;31(10):1549-1561