A recent patent filed by Rosebud Biosciences Inc, presents a ground-breaking approach to addressing challenges in the field of rare disease research and drug discovery.

Rare diseases, affecting around 350 million people globally, present major hurdles in genetic understanding and drug discovery. Traditional methods, such as whole exome sequencing, often focus on protein-coding areas, missing out on the crucial 98% of the non-coding genome. Additionally, the evolving epigenetics during development make it challenging to identify harmful mutations, slowing progress in finding effective treatments.

Innovation: Founded in 2020, Rosebud Biosciences has developed a novel Discover System combining high-content genomic assays, phenotypic analysis, and AI/ML with patient-specific induced pluripotent stem cell (hiPSC) disease models. This innovative method overcomes the limitations of traditional approaches by:

Genomic Mutation Identification: Uses AI/ML to analyze genomic sequences from patients and healthy controls, identifying critical mutations.

Stem Cell Differentiation: Utilizes hiPSCs to model diseases by differentiating them into relevant cell types or tissues, addressing the limitations of traditional methods.

Phenotypic Monitoring: Monitors disease emergence in hiPSCs through advanced imaging and phenotypic analysis, pinpointing the exact developmental stage and cell types affected.

This Discovery System is designed to handle the complexity of the non-coding genome and dynamic epigenetics, providing a more comprehensive understanding of genetic mutations and their effects. It not only identifies potential drug targets but also facilitates the development of new drugs, diagnostics, and gene therapies.