While the vast majority of rare diseases are genetic in origin, it is becoming increasingly clear that genetics alone is insufficient to fully understand rare disease pathobiology. Genetic perturbations, even from a single gene, can have ripple effects across multiple biological pathways, causing the disease to manifest differently in patients with the same mutation.
Sapient takes rare disease biomarker discovery beyond the genome by directly measuring the proteins, metabolites, lipids, and immune signals that reflect functional disease biology. Integrating these dynamic molecular readouts with DNA and RNA sequencing insights allows for better understanding of how an individual’s genotype associates with their disease phenotype.
Why do patients with the same genetic variant exhibit different disease severity or outcomes?
Which downstream molecular pathways are disrupted by a causative mutation – and are most amenable to therapeutic intervention?
What non-genetic functional biomarkers reflect disease activity or progression?
Which molecular features explain phenotypic heterogeneity within a rare disease population?
Elucidate the varied cascading effects that a single gene alteration can have across metabolic and signaling networks, and uncover disrupted pathways that can be targeted to correct the pathological state.
Dechiper functional differences among patients who appear similar based on genetics or clinical presentation, revealing distinct disease mechanisms that inform more precise target selection.
Leverage minimally invasive sampling to longitudinally evaluate biomarkers and response to therapies in patient populations that are often fragile and/or young.
Many new rare diseases therapies
aim to restore or compensate for a missing or dysfunctional protein. Our proteomics methods enable the direct quantification of proteins, providing a more accurate readout of biological activity and therapeutic effect.
We’ve innovated our methods to expand multi-omics discovery beyond the genome, adding new layers of insight to enhance our understanding of rare diseases and drive earlier diagnosis, improved patient stratification, and faster therapeutic development. These include:
Explore why, in order to fully understand the systemic pathobiology of rare diseases, we must look beyond genetic sequence alone.
DynamiQ is Sapient’s longitudinal molecular‑clinical data resource, built from tens of thousands of deeply phenotyped human samples. For oncology programs, DynamiQ enables:
Bridge the gap between inferred and functional biology to de-risk translation.
Layer your data and ours to orthogonally validate findings and extend discoveries.
Confirm discoveries in real-world patient data to build confidence for translation.
