The majority of people living with rare diseases remain undiagnosed, exacting an enormous toll on patients and their families, and limiting the pool of patients for newly-developed drugs. Genetic testing plays a pivotal role in the diagnosis of rare diseases, where a patient’s variant must be classified as pathogenic for them to be eligible for treatment or trial enrollment. Population data are often lacking for rare diseases, complicating variant classification and restricting the market for new and existing therapeutics.
Constantiam’s RareScan enables more patients to receive a conclusive diagnosis, unlocking lifesaving treatment options. RareScan provides evidence to classify VUS and define patient populations for rare disease therapeutics through innovative application of massively-multiplexed cellular assays and Bayesian generative modeling. This comprehensive approach ensures more variants can be accurately classified, facilitating better diagnoses and expanding the pool of eligible patients for clinical trials and therapeutic interventions.
RareScan significantly improves the ability to classify variants, accelerating diagnoses and expanding the reach of new and existing drugs.
RareScan eliminates the need for additional overhead or hiring. We collaborate with your team to leverage their disease-specific expertise, ensuring efficient and effective data collection.
RareScan proactively measures the effect of a therapeutic agent on thousands of variants in a single experiment, enabling accurate predictions of drug responsiveness before reaching the clinic. These data can be used to refine the patient population for genes in which different variants have distinct effects on gene function.