GeneScape

Who We Are: Purpose-driven, precision-focused and adaptable Welcome to GeneScape, a pioneering bioinformatics technology platform where we specialize in advanced genomic solutions and data analysis, with a strong focus on drug development for inherited rare and orphan diseases. Our drive comes from a deep understanding of the complexities of biology and the need for tailored solutions to address the unique challenges in developing innovative therapies. We stand at the forefront of genetic research; we work to provide the right tools and insights that will help propel innovative therapies forward into the market, where few solutions and treatments exist. What We Do: Accelerating the Discovery of Treatment for Rare and Orphan Diseases Our mission at GeneScape is to accelerate the discovery and development of life changing treatments for individuals affected by rare genetic conditions. We support critical aspects of the drug development process by leveraging our expertise in genomics, bioinformatics, epidemiology and machine learning, where we offer a suite of powerful tools and services tailored to your needs. We offer in-depth analysis to understand the nuances of the therapy in development, leveraging our expertise to design customized analytical workflows that align with the unique characteristics of a therapy modalityand its target patient population. How We Do It: We Specialize in Mutations One of our primary application expertise is our ability to provide thorough insight into variant calling. A process which involves accurately identifying and classifying genetic variations or mutations in individuals affected by rare diseases. We leverage state-of-the-art variant calling algorithms to provide unprecedented resolution, enabling researchers and clinicians to pinpoint specific mutations with high precision. In addition, we continually work to develop specific algorithms designed around the unique variants that drive a particular disease. These insights provide critical information that help us understand the genetic underpinnings of rare diseases and provide a blueprint for designing targeted therapies. Finding a Needle in the Haystack: Genetic Landscape At GeneScape we have the capability to provide statistically robust estimates for patient incidence and prevalence with regards to specific diseases at the mutation level and covering regional markets of interest. Our pipeline allows us to analyze a vast amount of genetic data, enabling estimations of the number of individuals affected by many rare diseases and to identify the specific genetic mutations they carry, independent of diagnosis. This information is invaluable for understanding disease burden, assessing market opportunities, to prepare and inform opportunities and challenges for drug development, investment and commercialization strategies. Patient Selection and Beyond GeneScape plays a pivotal role in streamlining identifying the right patient for the right drug in clinical trials. Our advanced genomic analysis capabilities allow researchers and clinicians to identify individuals who are most likely to benefit from specific investigational treatments. By selecting patients with specific genetic profiles, clinical trials can be optimized, leading to more efficient and effective drug development processes. In parallel, our patient modelling leverages data from diverse genetic ancestries, reflecting the diversity of target markets, supporting representation for diversity and inclusion in clinical trials. Investment and Forecasting Furthermore, GeneScape offers market forecasting services to guide investment decisions and commercialization strategies in the field drug development for rare and orphan diseases. By leveraging our comprehensive genetic data analysis to inform the total addressable population and deep-market insights, we provide valuable forecasts and projections for specific genetic therapies and their potential market impact. This enables pharmaceutical companies, investors, and other stakeholders to make informed decisions and allocate resources effectively. Trusted Partner and Commitment To Data Privacy GeneScape is committed to maintaining the utmost standards of data privacy and security. Our staff is trained on HIPAA, GCP and GDPR guidelines. We strictly adhere to international data protection protocols, ensuring the confidentiality and security of all genetic data entrusted to us. We emphasize our industry standard practices ensure that sensitive information remains protected at all times. Patients: Our First Priority As a trusted partner in the rare and orphan diseases community, GeneScape collaborates closely with academic institutions, patient-led research organizations, biotech and pharmaceutical companies. Through these strategic partnerships, we drive innovation, foster scientific advancements, and contribute to the development of life-changing therapies for individuals affected by rare or orphan diseases. Why GeneScape? Join us on our mission to accelerate the discovery and development of innovative treatments for rare and orphan genetic conditions. With GeneScape as your partner, together we can make a profound difference in the lives of patients and their families, bringing hope and healing to those affected by rare and orphan diseases.