Profluent and RSRT Partner to Target Rett Syndrome with AI-Designed Custom Genomic Medicines
The partnership leverages Profluent’s frontier AI models to tackle one of genetic medicine’s hardest problems: designing personalized genomic interventions for rare disease patients.
EMERYVILLE, Calif. – Profluent Bio announced a research collaboration with the Rett Syndrome Research Trust (RSRT) to design novel base editors to permanently correct mutations that cause Rett syndrome, a rare neurodevelopmental disorder. The partnership is grounded in a shared recognition that patients are waiting. Both organizations are committed to moving forward with urgency, rigor, and transparency.
“This collaboration is about people first – Rett families are trusting us with a challenge that affects them 24/7,” said Hilary Eaton, Chief Business Officer of Profluent. “There’s always been a tension between addressing rare diseases and making the economics work. Profluent is committed to using AI as the equalizer and democratizing the field of gene editing; whether a patient has a rare or common disease, they deserve access to safe, high-quality treatments.”
Rett syndrome is caused by mutations in the MECP2 gene. In this collaboration, Profluent will leverage its frontier AI models to engineer a potent and specific base editor platform that will target a set of recurrent "hot-spot" mutations that account for large numbers of Rett patients. These novel editors will also be made compact enough to fit inside a single AAV, which is critical for efficient delivery and gene correction in the central nervous system.
“Our AI is built to navigate a vast design space and find solutions that are out of reach with manual protein engineering methods, resulting in personalized mutation-specific genomic medicines that are an ideal match for each Rett patient,” said Peter Cameron, Profluent’s Senior Vice President of Gene Editing and Translation. “Together with RSRT, we’re excited to turn progress in the lab into impact for patients.”
“RSRT has consistently sought to leverage novel technologies to help us solve the considerable challenges of developing genetic medicines for Rett,” said Monica Coenraads, Chief Executive Officer of RSRT. “My colleagues and I can’t wait to put the AI prowess of Profluent to work generating results for our community. As always, I am grateful and deeply appreciative of all the families and their networks who support RSRT and make it possible for us to advance critical projects.”
About Rett Syndrome
Rett syndrome is a rare genetic neurodevelopmental disorder caused by random mutations in the MECP2 gene on the X chromosome. The disorder predominantly affects girls but can also rarely affect boys. Symptoms typically become apparent between the ages of 12 to 18 months. Rett syndrome is devastating as it deprives toddlers of speech, hand use, and normal movement often including the ability to walk. As childhood progresses the disorder brings anxiety, seizures, tremors, breathing difficulties, and severe gastrointestinal issues. While their bodies suffer, it is believed that their cognitive abilities remain largely intact. Although most children survive to adulthood, they require total round- the-clock care.
About Rett Syndrome Research Trust
The Rett Syndrome Research Trust is the only non-profit organization exclusively focused on advancing genetic medicines for Rett syndrome. It is the largest funder of Rett research worldwide, with almost $110 million raised since its founding.
Multiple clinical trials in gene therapy for Rett syndrome are now underway, all possible because of RSRT-funded research. In 2024 RSRT launched a $40 million initiative, Roadmap to Cures, with a goal to bring three genetic medicines, beyond the current gene therapies, to clinical trials by 2028. RSRT’s mission is clear, urgent, and personal: to cure Rett syndrome and transform the lives of the people we love. To learn more, please visit . Follow us on Facebook, Instagram and YouTube.
About Profluent Bio
Profluent is an AI-first company pushing the frontier of de novo protein design to author new biology. Grounded in nature with AI as an interpreter, Profluent’s powerful foundation model platform unlocks solutions that transform medicine, agriculture, and beyond. Founded in 2022 and headquartered in Emeryville, CA, Profluent is backed by leading investors including Spark Capital, Insight Partners, Air Street Capital, AIX Ventures, and Convergent Ventures. To learn more, visit profluent.bio or follow the company on LinkedIn, X, and YouTube.
