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From Data to Discovery: Find the Right Patients Across the Therapy Lifecycle
Understanding who the right patients are—and how to find them—remains a challenge across the rare disease therapy lifecycle. From clinical development and trial enrollment through post-approval, each stage generates new insights into patient populations and their diagnostic and healthcare journeys.
In this webinar, experts from GeneDx, UCB, and Neurvati Neurosciences will explore how genomic, phenotypic, claims, and EHR data can help identify and better understand patients across the therapy lifecycle. The discussion will highlight how real-world data can uncover patients who may otherwise be difficult to identify, support clinical development, and generate insights that inform future programs.
The speakers will also explore how these insights can be applied across the therapy lifecycle, drawing on GeneDx Infinity™, the largest clinically derived genomic dataset spanning more than 2.5 million genetic tests, 1 million exomes and genomes, and millions of phenotypic data points, now complemented by claims data. Together, these data can help provide a deeper understanding of patient populations and generate actionable insights from discovery through post-approval.
Colleen Caleshu, MSc, LCGC
Senior Director of Translational Research
Colleen Caleshu is a clinician-scientist leader and genetic counselor with more than 23 years of experience in genomic medicine and real-world data, including over a decade collaborating with rare disease biopharma organizations. As Senior Director of Translational Research at GeneDx, she leverages GeneDx Infinity, the world’s largest clinically interpreted genomic dataset, to lead research and real-world evidence strategies that support biopharma partners across evidence generation, study design, and clinical trial-enabling patient cohort development. She is currently completing a PhD in clinical trial methodology at Leiden University. Her research, along with 47 peer-reviewed publications and more than 60 conference presentations, spans clinical trials, natural history studies, variant interpretation, and LLM-based real-world data methodology. She is an internationally recognized expert in cardiovascular genetics, having established and led genetics programs embedded in cardiology at Stanford and UCSF.
Sarah Chang, PhD
UCB
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.
Joe Walter, MBA
Neurvati
Joe Walter is Senior Director of Marketing, at Neurvati Neurosciences, where he leads market development and commercialization strategy for rare pediatric neurodevelopmental disorders and epilepsy. Previously, he has launched therapies in pediatric rare disease, oncology and hematology at Rocket Pharma, ADC Therapeutics and AstraZeneca. He is an experienced commercial leader with 15+ years in healthcare sales and marketing.
Related webinars
Explore how genomic, phenotypic, claims, and EHR data can help uncover hard-to-identify rare disease patients, support clinical development, and generate actionable insights across the therapy lifecycle.
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