Join us to learn how Genomenon is advancing Precision Therapeutics by unlocking Real-World Evidence (RWE) from decades of clinical literature.
Despite the vast trove of patient data and scientific insights contained in published research, extracting and organizing this information remains a significant challenge. Genomenon overcomes this challenge by combining genomics-focused AI with expert human curation and deep scientific expertise. This unique combination helps partners leverage this literature-driven RWE to drive discoveries that impact patient care and drug development.
During the session, we’ll take you through two case studies that show the breadth and depth of these insights, fueling everything from biomarker discovery and patient stratification to gene-disease curation and clinical trial design.
Rare Disease Use Case: Diagnostic Impact through Curation
Sarah Chang, Ph.D., Medical Strategy Lead at UCB, will detail how expert curation and classification of genetic variants in thymidine kinase 2 deficiency (TK2d) have expanded the disease’s knowledge base. Through meticulous expert curation, previously ambiguous or unrecognized variants are now clearly classified, providing the global clinical community with freely accessible, clinically actionable data. This resource not only accelerates accurate diagnosis but also reduces barriers to genetic testing, ultimately improving patient outcomes and informing care strategies.
Cancer Use Case: AI-Driven Insights for Drug Discovery
Dr. Mark Kiel, Genomenon Chief Scientific Officer, and Jonathan Eads, Genomenon VP of Technology, will demonstrate how Genomenon’s AI-powered knowledge graph indexes and analyzes clinical literature for RWE at scale. By intelligently linking therapies, phenotypes, genes, and variants across diverse disease areas, the platform enables comprehensive scientific analysis and precise patient characterization.
In one featured project, the platform processed over 50,000 full-text articles on colorectal cancer, uncovering novel correlations between patient demographics, genetic variants, treatments, and outcomes. These insights, including emerging biomarkers of immunotherapy response, provide actionable evidence that accelerates drug discovery and enables more targeted patient identification for precision therapeutics partners.
Broader Implications: Enabling Precision Therapeutics with Patient-Derived RWE
Whether the goal is to support the diagnosis of rare diseases or to drive targeted drug discovery in oncology, Genomenon enables partners to leverage patient-derived RWE from the literature. This capability positions therapeutic companies to make data-driven decisions, enhance precision medicine initiatives, and ultimately improve patient outcomes worldwide.
Join us to learn how your organization can apply these insights to your own drug development programs.
Webinar recording coming soon!
Sarah Chang, PhD, is a medical affairs professional with over 20 years of experience in the pharmaceutical industry. At UCB, she leads initiatives focused on an ultra-rare mitochondrial disease, called thymidine kinase 2 deficiency (TK2d). Her work centers on advancing genetic understanding and improving diagnostic pathways to help patients receive earlier, more accurate diagnoses. Deeply committed to the rare disease community, Dr. Chang is driven by the belief that every patient—no matter how rare their condition—deserves timely care, meaningful support, and the hope of a better future.
As VP of Technology Jonathan Eads spearheads Genomenon's software development team leading the technical vision and implementation for the company technologies, including its AI strategy. He brings 25 years of experience in genomics, drug discovery, bioinformatics, and AI/ML software application development, with extensive experience building and leading engineering teams to deliver operational excellence.
Dr. Mark Kiel is the co-founder and chief scientific officer at Genomenon, where he oversees the company's scientific direction and product development. Mark received his MD/PhD in Clinical Pathology at the University of Michigan. He founded Genomenon to address the challenge of connecting researchers with evidence in the literature to help diagnose and treat patients with rare genetic diseases and cancer.
We help provide insights into key genetic drivers of diseases and relevant biomarkers. By working together to understand this data, we enable scientists and researchers to make more informed decisions on programs of interest. To learn more about how we can partner together to find your genomic variant solutions, we invite you to click on the link below.
