GeneScape

Bronze Sponsor

GeneScape is a pioneering technology company specializing in advanced genomic solutions and data analysis, with a strong focus on drug development for inherited rare or orphan diseases. We support variant calling, patient selection and epidemiology modelling to inform key strategic decisions in drug development programs. We are driven by a deep understanding of the complexities of biology and the need for tailored solutions to address the unique challenges in developing innovative therapies. We work to provide the right tools and insights that will help propel innovative therapies into the market, because there is no ‘one-size-fits-all’ solution when it comes to rare disease. Our mission at GeneScape is to accelerate the discovery and development of life-saving treatments for individuals affected by rare genetic conditions.

By leveraging our expertise in genomics, bioinformatics, epidemiology and machine learning, we offer a suite of powerful tools and services that support critical aspects of the drug development process. We take the time to understand the nuances of the therapy in development, leveraging our expertise to design customized analytical workflows that align with the unique characteristics of the therapy and its targeted patient population. One of our primary applications is providing insights into variant calling, which involves accurately identifying and classifying genetic variations in individuals affected by rare diseases. We leverage stateof-the-art variant calling algorithms to provide unprecedented resolution, enabling researchers and clinicians to pinpoint specific mutations with high precision. In addition, we work to develop specific algorithms designed around the unique targets driving a particular disease.

This critical information helps in understanding the genetic underpinnings of rare diseases and designing targeted therapies. In addition, GeneScape plays a pivotal role in patient selection for clinical trials. Our advanced genomic analysis capabilities allow researchers to identify individuals who are most likely to benefit from investigational treatments. By selecting patients with specific genetic profiles, clinical trials can be optimized, leading to more effective and efficient drug development processes. Another core strength of GeneScape is our ability to provide reliable estimates for patient incidence and prevalence of specific diseases at the mutation level. Our efficient pipeline analyzes vast amounts of genetic data, enabling statistically robust estimations of the number of individuals affected by many rare diseases and the specific genetic mutations they carry. This information is invaluable for understanding disease burden, assessing market opportunities, and informing investment and commercialization strategies.