Profluent Bio has announced a strategic research collaboration with the Rett Syndrome Research Trust (RSRT) to develop AI-designed genomic medicines for Rett syndrome, a rare and severe neurodevelopmental disorder. The partnership aims to create customized base editors capable of permanently correcting the genetic mutations responsible for the condition, using Profluent’s advanced AI models to accelerate discovery and precision. Rett syndrome is caused by mutations in the MECP2 gene, primarily affecting girls, though rare cases occur in boys. Symptoms typically emerge between 12 and 18 months of age and include loss of speech and hand use, impaired mobility, seizures, breathing irregularities, and severe gastrointestinal problems. Despite intact cognitive abilities, affected individuals require lifelong, round-the-clock care. The collaboration focuses on recurrent “hot-spot” mutations, particularly the T158M variant, which is commonly found in Rett patients. Profluent will use its frontier AI platform to design highly specific and potent base editors—molecular tools that can precisely alter DNA—while ensuring they are compact enough to fit within a single adeno-associated virus (AAV) vector. This is crucial for efficient delivery to the central nervous system, where gene correction is most needed. Peter Cameron, Senior Vice President of Gene Editing and Translation at Profluent, emphasized the power of AI in overcoming limitations of traditional protein engineering. “Our AI can explore vast molecular design spaces to identify solutions that would be impossible to discover manually,” he said. “This enables us to develop personalized genomic medicines tailored to individual mutations.” Hilary Eaton, Chief Business Officer at Profluent, highlighted the company’s mission to democratize gene editing. “This collaboration is about people first,” she said. “We’re committed to using AI as an equalizer, ensuring that rare disease patients have access to safe, high-quality treatments regardless of how uncommon their condition may be.” Monica Coenraads, CEO of RSRT, underscored the urgency from the patient community. “Rett is not an abstract problem—it’s our children, our siblings, our friends,” she said. “Families are counting on us to advance science with speed, rigor, and transparency. Profluent’s AI-driven approach gives us real hope for transformative therapies.” RSRT, the world’s largest funder of Rett syndrome research, has raised nearly $110 million since its founding and recently launched the $40 million Roadmap to Cures initiative with the goal of advancing three new genetic medicines to clinical trials by 2028. Profluent Bio, founded in 2022 and headquartered in Emeryville, California, is an AI-first company specializing in de novo protein design. Its foundation model platform leverages artificial intelligence to create novel biological solutions with applications in medicine, agriculture, and beyond. The company is backed by prominent investors including Spark Capital, Insight Partners, Air Street Capital, AIX Ventures, and Convergent Ventures. The collaboration marks a significant step in applying cutting-edge AI to rare genetic diseases, combining scientific innovation with deep commitment to patient impact.