Probably Genetic, a company dedicated to accelerating rare disease diagnoses, has secured $10.7 million in new funding. The capital infusion will support the company's mission to help undiagnosed rare disease patients find answers to their symptoms in a matter of weeks. Globally, over 400 million individuals live with a rare disease, a population larger than those affected by cancer and HIV combined. A significant portion of these patients, half of whom are children, remain undiagnosed, often enduring an average diagnostic journey of five to seven years. Probably Genetic aims to significantly reduce this timeframe.
The company addresses this challenge through a comprehensive system. Its online Symptom Checker leverages state-of-the-art machine learning models to identify potential rare disease patients. Following identification, Probably Genetic facilitates genetic testing via its direct-to-consumer service. Crucially, the platform then connects these patients to potentially life-saving treatments and relevant advocacy communities. To ensure accessibility, Probably Genetic collaborates with drug developers to offer sponsored testing programs, allowing patients to access genetic testing with little to no out-of-pocket cost.
This latest funding round underscores investor confidence in Probably Genetic's innovative approach to a critical healthcare need. The $10.7 million investment is earmarked to scale the company's operations, further enhance its diagnostic technology, and expand its reach to more patients worldwide. By strengthening its infrastructure and refining its machine learning capabilities, Probably Genetic aims to accelerate the diagnostic process for an even greater number of individuals struggling with undiagnosed rare conditions.
Looking ahead, Probably Genetic plans to continue its growth trajectory, focusing on expanding its partnerships and refining its patient support pathways. The company remains committed to reducing the diagnostic odyssey for rare disease patients and connecting them with timely, appropriate care.









