Research

Sema4’s internationally recognized research program, run by world leaders in data science, network modeling, multiscale biotechnology, and genomics, drives advances in patient-centered predictive healthcare. Our research team has published over 1,000 peer-reviewed publications in the last five years and comprises more than 100 PhD scientists, as well as MDs and over 100 certified technicians. Ongoing collaborations with scientists and clinicians in the Mount Sinai Health System ensure that our research remains patient-centered and clinically-relevant.

We are a strong presence in the field of oncology research. As part of our personalized cancer therapy program, we use deep exome or whole genome sequencing and network modeling to identify both “hotspot” drivers and networks of interactions that are not captured by individual gene or pathway analyses. These insights are validated using experimental models (including fly avatar models) and translated into highly-personalized treatment plans to help oncologists more effectively target cancer.

Our research into Alzheimer’s Disease also promises clinical advances for patients. Based upon our years of research on network modeling of Alzheimer’s Disease and the recent discovery of a major Alzheimer’s driver gene, we are pursuing an early-stage clinical trial for gene therapy. Using machine learning, we found that VGF is a master regulator gene that is downregulated in Alzheimer’s patients. Overexpression of this gene in a mouse model of Alzheimer’s dramatically reduced the pathology of disease and enhanced cognitive functioning. We are now planning a clinical trial to test whether VGF has a similar effect in humans.

We also have a number of active, fruitful collaborations within the pharma industry, and recently published the results of a study we ran in collaboration with Rhythm Pharmaceuticals [Ayers et al.]. In this study, we took a genetically rationalized approach to patient stratification to identify which obese sub-populations should be targeted for MC4R agonist treatment.

Our research is driven by four interlinked areas of scientific expertise: