RD-Factory Program: Accelerating Solutions for Rare Diseases

While individual rare diseases (RD) affect relatively small populations, their collective impact is profound, touching the lives of over 300 million people worldwide. Despite this massive burden, the vast majority of these conditions lack approved therapies. To address this critical gap, the Czech Centre for Phenogenomics (CCP) has established the RD-Factory Program, a strategic initiative designed to function as a comprehensive ecosystem for the functional analysis and treatment of rare genetic variants.

The RD-Factory program integrates advanced genome engineering, disease model generation, deep phenotyping, and translational research within a single framework. Building on CCP’s experience in developing more than 1,000 mouse models and the drug discovery and biomarker expertise of the Institute of Molecular and Translational Medicine (IMTM), the program focuses on understanding disease mechanisms and creating advanced disease models. These models are used to support the development of cell and gene therapies as well as repurposed compounds, with the clear ambition of advancing promising concepts toward preclinical testing and, ultimately, clinical application.

A key strength of RD-Factory is the close integration of disease model generation with comprehensive phenotypic analysis. This enables researchers to investigate the biological basis of rare diseases in depth, identify clinically relevant endpoints, and conduct robust preclinical studies with strong translational potential. By aligning experimental outcomes with patient needs, the program helps bridge the gap between laboratory research and clinical application.

RD-Factory operates as an open platform that brings together researchers, clinicians, patients, and patient organizations. Through a continuous collaborative nomination process, stakeholders can propose genes or diseases requiring further investigation.

RD-Factory is implemented in close collaboration with IMTM and the patient umbrella organization Rare Diseases Czech Republic. By combining world-class research infrastructure with a patient-centered perspective, the initiative is accelerating the development of diagnostics and therapies for rare diseases and helping translate scientific discoveries into real clinical impact.

The CCP has launched the Call for Nomination of Genes or Diseases within the RD-Factory program to advance research and therapy development for rare genetic disorders.