The hidden cost of PBC fatigue

AI is already reshaping rare disease diagnosis. What if it could do the same for how we communicate with patients and healthcare professionals? A breakthrough year AI has enabled remarkable progress in rare disease. Among the advances in the last 12 months, AI can now: score genetic variants to flag likely disease causing mutations;¹ explore … Continued

Genomic sequencing can change a child’s future, potentially leading to treatment, support and care close to home. A six-year-old girl couldn’t walk. To cross a room, she scooted on her bottom. Her family watched other children run, climb and play while they moved from appointment to appointment without an answer. Then, genomic sequencing identified her … Continued

If penicillin’s discovery marked a turning point in medicine in the twentieth century, then the development of cell and gene therapies, turbo-charged by AI, could be the defining moment of the early twenty-first. The evolution of these new therapies represents a paradigm shift in how we treat a wide range of genetic disorders and diseases, including cancers and rare diseases. While welcome, it also presents scientific questions … Continued