Speakers: Zohreh Talebizadeh, PhD

Zohreh Talebizadeh, PhD

Senior Director of RARE-X Research Program
Global Genes

Dr. Talebizadeh serves as Principal Investigator of RARE-X, a research program of Global Genes, a global rare disease patient advocacy organization. RARE-X is a symptom-based data collection platform designed to enable comprehensive disease characterization and cross-disorder research. Today, RARE-X includes data on more than 85 rare diseases, developed in partnership with over 130 patient advocacy groups. She also leads a Chan Zuckerberg Initiative-funded project to develop an AI-based analytics pipeline to accelerate insight generation from RARE-X data.
Her expertise spans genetics, epigenetics, data science, and patient-centered outcomes research, with a focus on autism and neurodevelopmental disorders across rare and common diseases. Her work includes the identification of disease subtypes, investigation of gene regulatory processes, and application of systems biology approaches. She has also led the development of conceptual frameworks that support the integration of patient perspectives into genetics research and data-driven discovery.
Dr. Talebizadeh earned her PhD in Genetics from the University of Nebraska Medical Center. She previously directed the Autism Genetics Research Laboratory at Children’s Mercy Hospital. Prior to joining Global Genes, she served as a Translational Research Manager at the American College of Medical Genetics and Genomics, where she contributed to the NICHD-funded Newborn Screening Translational Research Network.

 

RARE-X: Patient-Reported Data in Rare Disease Research—Challenges and Opportunities in AI Applications

Limited access to comprehensive patient data and fragmented data infrastructure continue to hinder disease understanding and therapy development in rare disease research. Patient-reported outcomes (PROs) capture real-world disease experiences; however, their use remains limited by a lack of standardization and barriers to data sharing. RARE-X, the research program of the nonprofit patient advocacy organization Global Genes, was launched in 2021 to address key challenges in rare disease data. This disease-agnostic platform uses a shared survey structure to capture symptom-based patient-reported data, enabling standardized data collection and supporting cross-disorder analyses. The platform supports global participation, longitudinal data collection, and data sharing. Its development has been guided by ongoing engagement with patient advocacy groups and supported by a governance framework that promotes participant data stewardship. This presentation provides an overview of the RARE-X platform and highlights key research use cases. It also discusses challenges and opportunities in applying AI-based approaches to PRO data.