Building Better Rare Disease Data

Building Better Rare Disease Data
People with rare genetic diseases can spend years seeking a diagnosis, while researchers lack much of the detailed patient information needed to develop better diagnostic tools and treatments. Medical records capture only part of the picture, often leaving out observations, images, and videos that patients and caregivers can provide. Probably Genetic is addressing these gaps through a direct-to-patient platform that connects eligible patients with genetic testing and counseling while assembling clinical, genetic, and patient-reported data for research. Lukas Lange, co-founder and CEO of Probably Genetic, discusses the company’s approach, its ARPA-H-supported Project Rosetta, and how richer patient data could help shorten the diagnostic journey and lay the groundwork for new treatments.