This week’s Friday Five recognizes Rare Disease Day®—observed worldwide each year at the end of February—to shine a light on the millions of patients and families living with rare conditions and the urgent need for greater awareness, research, and collaboration. Since 2011, the National Center for Advancing Translational Sciences (NCATS) has sponsored Rare Disease Day at the National Institutes of Health (NIH), bringing together scientists, advocates, and partners to highlight the real impact of rare diseases and the innovative collaborations helping drive new discoveries and treatments forward.
Tell Me Where IT Hurts: Healthcare Data Interoperability Challenges with Amy Gleason
On this episode Dr. Jay Anders welcomes back Amy Gleason, a longtime leader at the intersection of healthcare policy, technology, and interoperability. Currently serving as Acting Administrator of the U.S. DOGE Service and Strategic Advisor to the Centers for Medicare & Medicaid Services (CMS), Gleason is helping shape a new, collaborative approach to modernizing healthcare data exchange across the country. Gleason is known for modernizing federal health IT, creating COVID-19 data systems, and advocating for better patient data interoperability, driven by her experience as a caregiver for her daughter with a rare disease. She has served in both Republican and Democratic administrations, focusing on improving healthcare through technology and data.
The episode closes with a deeply personal story. Gleason shares how her daughter, a complex patient with a rare disease, used AI tools combined with her complete medical record to correct a long-standing diagnosis, avoid an emergency department visit, and receive real-time guidance during home infusion therapy. The story illustrates the potential of patient-accessible data combined with responsible AI to deliver timely, actionable insight outside traditional care settings.
P4ML Becomes Founding Member of Orphan Therapeutics Accelerator (OTXL) to Support Broader Global Access to Ultra-Rare Disease Treatments
P4ML, a Future100 company headquartered in the UAE, has been named a Founding Member of the Orphan Therapeutics Accelerator (OTXL), expanding OTXL’s international capabilities in genomic patient identification, and enhancing the development of and access to advanced therapies in a region disproportionately affected by rare diseases.
Rare Diseases: Individually Rare, Collectively Common
Genetic and Rare Diseases (GARD) Information Center
The Genetic and Rare Diseases (GARD) Information Center information specialists are available to answer questions and provide support. GARD uses information from reputable sources, such as the National Library of Medicine, MONDO, Orphanet, OMIM, Human Phenotype Ontology, and other NIH institutes and centers to compile comprehensive and understandable information.
Rare Disease Day 2026 Official Video
The Official Campaign Video of Rare Disease Day 2026- Learn more and get involved!
ICYMI – Our other Friday Fives.
