The Richard King Mellon Foundation has made a landmark investment of up to $25 million to launch Rare Ventures™, a first-of-its-kind venture philanthropy platform designed to accelerate the development of therapies for rare diseases and establish a new model for medical innovation.
The announcement marks one of the largest philanthropic commitments dedicated to building a new model for rare disease innovation. Rare Ventures is an ambitious effort to do for rare-disease medicine what venture capital did for technology: creating the infrastructure, capital, expertise and partnerships required to transform promising ideas into accessible treatments for the hundreds of millions of people suffering from rare diseases without hope of a cure.
Founded by the team behind leading patient foundation EB Research Partnership (EBRP) and built in collaboration with the University of Pittsburgh Health Sciences, UPMC Children’s Hospital of Pittsburgh, UPMC Vision Institute, Carnegie Mellon University, Stanford Medicine, ElevateBio and leading biotechnology partners, Rare Ventures seeks to transform how discoveries become treatments by integrating artificial intelligence (AI), patient data, basic and translational research, clinical development, manufacturing and commercialization into a single coordinated platform.
More than 400 million people worldwide live with a rare disease, yet approximately 95% of the more than 10,000 known rare diseases have no approved treatment. Rare diseases affect more people than cancer. While scientific breakthroughs in genomics, gene editing, AI and biotechnology have accelerated dramatically over the past decade, the systems required to translate those discoveries into therapies at scale have not kept pace.
Rare Ventures was created to change that.
Rare Ventures builds upon the leading patient foundation EBRP’s model that has demonstrated success in the life-threatening genetic rare skin disease epidermolysis bullosa (EB) in one of medicine’s most challenging fields: rare disease. Over the past 14 years, EBRP has helped fund more than 180 research projects in 22 countries, contributed to the expansion of the EB clinical trial landscape from two active trials to more than 50, and accelerated the development of three U.S. Food and Drug Administration-approved therapies in the last three years. Through its pioneering venture philanthropy approach, EBRP has also demonstrated that financial returns generated from successful therapies can be reinvested into future research, creating a sustainable cycle of innovation and impact.
Rare Ventures expands that model beyond a single disease.
The platform brings together three integrated pillars designed to address the most significant barriers in rare disease development: AI-powered patient data infrastructure, venture philanthropy investment and therapeutic development through basic research, clinical translation, regulatory strategy, manufacturing and commercialization. Together, these capabilities create a repeatable framework for advancing therapies from discovery to patients faster, more efficiently and at greater scale.
The initiative launches with an initial portfolio spanning multiple rare diseases and is designed to grow into a platform capable of supporting hundreds of disease communities over time.
“Rare disease patients have waited long enough,” said Michael Hund, chief executive officer of EB Research Partnership and cofounder of Rare Ventures. “For too long, families have faced a system where scientific discoveries move too slowly, clinical trials are difficult to access and promising therapies often stall before reaching patients. Rare Ventures was created to challenge that reality. By bringing together AI, venture philanthropy, therapeutic development and world-class institutions, we are building a new model designed to accelerate therapies and create hope for millions of families around the world.”
The Richard King Mellon Foundation’s investment will support the establishment of Rare Ventures’ foundational infrastructure, including patient data platforms, basic and translational research programs, therapeutic development capabilities, clinical trial innovation and strategic partnerships across academia, industry and health care.
“Rare diseases represent one of the greatest unmet challenges in medicine, affecting millions of families while receiving only a fraction of the attention and resources devoted to more common conditions,” said Sam Reiman, director and trustee of the Richard King Mellon Foundation. “Rare Ventures brings together an exceptional group of partners around a bold vision: creating the infrastructure, partnerships and innovation ecosystem needed to accelerate therapies for patients. We believe Pittsburgh possesses the talent, institutions and collaborative spirit necessary to lead this effort, and we are proud to support its launch.”
Pittsburgh was selected as the home of Rare Ventures because of its unique concentration of strengths across AI, life sciences, clinical research, advanced manufacturing and translational medicine. The platform will collaborate with institutions including Pitt Health Sciences, Children’s Hospital, UPMC Vision Institute, Carnegie Mellon, Stanford Medicine, ElevateBio and industry partners spanning biotechnology and advanced therapeutics.
At the center of the platform is a shared vision: creating a coordinated system capable of transforming scientific breakthroughs into approved therapies at a pace and scale not previously possible.
“Throughout our work with the EB community, we’ve witnessed what becomes possible when patients, researchers, physicians, philanthropists and industry leaders unite around a common purpose,” said Jill and Eddie Vedder (the latter a Rock and Roll Hall of Fame inductee), cofounders of the EB Research Partnership and global advocates for rare disease patients. “Rare Ventures represents the next chapter of that journey. It’s about taking lessons learned from one disease and building something that can help families facing thousands of rare diseases. Every patient deserves hope, and every scientific breakthrough deserves the opportunity to reach the people who need it most. When we think of Pittsburgh, we think of the City of Champions. Thanks to the Richard King Mellon Foundation, the team we have united are truly the champions of the rare disease community.”
Rare Ventures will also build upon Curator™, an AI-powered, genomics-driven patient platform developed through collaborations with leading technology and academic partners. The platform is designed to connect patients with specialists, clinical trials and research opportunities while providing researchers and industry partners with the data needed to accelerate therapeutic development.
“Rare diseases have long suffered from fragmented data, limited patient populations and barriers that make research and clinical development extraordinarily difficult,” said Jean Tang, professor of dermatology at Stanford Medicine. “The ability to responsibly connect patient data, genomic insights, clinical expertise and emerging technologies creates an unprecedented opportunity to accelerate discovery and improve outcomes for patients worldwide.”
The platform will leverage Pittsburgh’s scientific and clinical ecosystem to support therapeutic development across multiple disease areas, including genetic, pediatric, neurological, metabolic and ophthalmologic conditions.
“Pittsburgh is uniquely positioned to lead the next generation of rare disease innovation,” said Terence Dermody, Distinguished Professor, Vera I. Heinz Professor and chair, Department of Pediatrics, at the University of Pittsburgh School of Medicine and physician-in-chief and scientific director at Children’s Hospital. “By combining cutting-edge research, world-class clinical expertise and an infrastructure that supports collaboration, Rare Ventures has the potential to accelerate the translation of scientific discoveries into therapies that improve and save lives.” The Children’s Hospital team combines the synergistic efforts of Pitt’s basic and translational scientists in the Genetics, Genomics and Growth Center, led by associate professors of pediatrics Arjumand Ghazi and Eric Goetzman, and clinical investigators in the Center for Rare Disease Therapy, led by Jerry Vockley, Cleveland Family Professor of Pediatric Research, Pitt School of Medicine. .
The platform’s ophthalmology efforts will build on pioneering work in inherited retinal diseases and vision restoration conducted at Pitt and partner institutions.
“Advances in genetics, regenerative medicine and precision therapeutics have created extraordinary opportunities for patients affected by inherited retinal diseases and other rare ophthalmic conditions,” said José-Alain Sahel, Distinguished Professor, Eye and Ear Foundation Professor and Chair, Department of Ophthalmology, Pitt School of Medicine, and director of the UPMC Vision Institute. “Rare Ventures provides a framework for bringing together the scientific, clinical and translational capabilities needed to move these innovations toward patients more rapidly.”
AI and data science will play a central role in Rare Ventures’ strategy, leveraging Pittsburgh’s position as a global leader in AI research and technology development.
“The convergence of artificial intelligence, computational biology, genomics and medicine is creating entirely new possibilities for understanding and treating human disease,” said Barbara Shinn-Cunningham, Glen de Vries Dean for the Mellon College of Science at Carnegie Mellon. “Rare Ventures represents an exciting opportunity to bring together expertise across disciplines to tackle some of the most difficult challenges in health care.”
Rare Ventures will also benefit from Pittsburgh’s growing leadership in advanced biomanufacturing. The Richard King Mellon Foundation has also supported the creation of Pitt BioForge, a cell and gene therapy biomanufacturing innovation center developed by ElevateBio and Pitt, with a $100 million grant. Together, these complementary investments strengthen Pittsburgh's position as a national destination for therapeutic innovation, translation and commercialization.
“The future of medicine will depend on our ability to translate scientific breakthroughs into therapies efficiently, reliably and at scale,” said Christopher Murphy, chief executive officer of ElevateBio. “Rare Ventures represents an exciting new model for bringing together the scientific, clinical, technological, and translational capabilities required to accelerate therapies for patients. We are proud to support an initiative that aligns so closely with Pittsburgh's growing leadership in advanced therapies and biomanufacturing.”
Over time, Rare Ventures aims to create a self-sustaining model in which philanthropic capital, venture philanthropy returns, industry partnerships and platform-based infrastructure continuously generate resources that can be reinvested into future therapeutic development. The long-term vision is to create a scalable engine capable of accelerating therapies across hundreds of rare diseases and serving as a blueprint for the future of medical innovation.
“Ultimately, our success will not be measured by the model we build, the capital we deploy or the partnerships we unite,” said Hund. “It will be measured by the therapies we help bring to patients and the lives we improve. That is the mission that unites everyone behind Rare Ventures. We thank the Richard King Mellon Foundation for making it possible.”