OUR RESEARCH

Impactful research to inspire
treatments for neuroendocrine
diseases

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.

Sabrina. Living with Bardet-Biedl syndrome,
and her mother Ann

Our approach to these diseases is built upon a DNA sequencing infrastructure with samples from more than 45,000 individuals living with 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 hyperphagia and obesity, we aim to identify specific populations living with rare MC4R pathway diseases that may benefit from our 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 disrupt 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.

Craving Answers?

If you would like to learn more about the symptoms or diagnosis of rare MC4R pathway diseases, please visit:

Craving Answers

Path4HCPs

If you are a healthcare professional based outside of the US and would like to discover more about the MC4R pathway, rare MC4R pathway diseases and their management, visit our healthcare professional website:

Path4HCPs

References

 
  • 1.

    Fonseca ACP, et al. J Diabetes Complications. 2017;31(10):1549–1561