UPMC Vision Institute and the Eye & Ear Foundation help anchor a first-of-its-kind platform to accelerate therapies for rare eye diseases.
When José-Alain Sahel, MD, FARVO, Eye & Ear Foundation Endowed Chair of Ophthalmology at the University of Pittsburgh School of Medicine and Director of the UPMC Vision Institute, approached Sam Reiman of the Richard King Mellon Foundation about the urgent need for new pathways to treat rare eye disease, ultimately setting in motion a collaboration that has now been integrated in Rare Ventures™, a Pittsburgh-based venture philanthropy platform designed to move discoveries from the lab to patients faster.
Coordinated by the EB Research Partnership (founded by Jill and Eddie Vedder of Pearl Jam) and anchored in part by the UPMC Vision Institute, the Eye & Ear Foundation, the University of Pittsburgh Health Sciences, UPMC Children’s Hospital of Pittsburgh, Carnegie Mellon University, Stanford Medicine, ElevateBio, and other partners, Rare Ventures unites artificial intelligence, clinical research, therapeutic development, and commercialization behind a single goal: accelerating treatments and cures for rare diseases, with pioneering work in inherited retinal disease and vision restoration among its first demonstrators.
The Richard King Mellon Foundation has committed up to $25 million, one of the largest philanthropic investments dedicated to building a new model for rare disease innovation. Rare Ventures aims to do for rare-disease medicine what venture capital did for technology: create the infrastructure, capital, expertise, and partnerships required to turn promising science into accessible therapies for the hundreds of millions of people living with rare diseases that still have no approved cure.
Ophthalmic Research at the UPMC Vision Institute
The Department of Ophthalmology at the University of Pittsburgh is internationally recognized for excellence in retinal research and vision restoration. The UPMC Vision Institute is the leading US site for UNIRARE, a worldwide (35 sites) program on rare retinal degenerations, sponsored by the Foundation Fighting Blindness Clinical Consortium, coordinated by José-Alain Sahel. UPMC Vision Institute faculty recruited over the past years from leading institutions are developing multiple diagnostic and therapeutic approaches, from high resolution imaging, gene therapies, gene editing, optogenetics, neuroprotection, pharmacology and prosthetic vision. They are positioned to advance compelling preclinical evidence through product development, validation, trial implementation, and the path to approval, starting with two severe, currently untreatable conditions selected as demonstrator projects.
Demonstrator Project 1: FAM161A deficiency, a cause of retinitis pigmentosa type 28, leads to progressive rod and cone photoreceptor loss and profound vision impairment. Strong proof of concept has been established by collaborators in Switzerland (Dr. Arsenevic) and in Israel (Drs. Banin and Sharon), offering strong hopes for affected patients worldwide.
Demonstrator Project 2: TYR deficiency in oculocutaneous albinism type 1A. Absence of TYR results in profound hypopigmentation of the iris, retinal pigment epithelium (RPE), and choroid, producing severe photophobia, reduced visual acuity, nystagmus, and foveal hypoplasia that reshape daily life for patients and families. The Leah Byrne Laboratory at the Vision Institute has developed a compelling gene therapy program.
“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 Dr. Sahel. “Rare Ventures provides a framework for bringing together the scientific, clinical, and translational capabilities needed to move these innovations toward patients more rapidly.”
Success on these two conditions would pave the way for future developments in other indications, benefiting from the strong ecosystem established in Pittsburgh with support from Pitt, UPMC, UPMC Enterprises and major philanthropies.
Expanding a Proven Model
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. Scientific breakthroughs in genomics, gene editing, artificial intelligence, and biotechnology have accelerated over the past decade, but the systems required to translate those discoveries into therapies at scale have not kept pace.
Rare Ventures was created to change that.
The platform builds on the model pioneered by EB Research Partnership (EBRP) for epidermolysis bullosa (EB), a life-threatening genetic rare skin disease. Over 14 years, EBRP has helped fund more than 180 research projects in 22 countries, expanded the EB clinical trial landscape from two active trials to more than 50, and accelerated three FDA-approved therapies in the last three years. Through venture philanthropy, EBRP has shown that financial returns from successful therapies can be reinvested into future research, creating a sustainable cycle of innovation.
Rare Ventures expands that model beyond a single disease. Three integrated pillars address the largest barriers in rare disease development: AI-powered patient data infrastructure, venture philanthropy investment, and therapeutic development spanning basic research, clinical translation, regulatory strategy, manufacturing, and commercialization. Together they form a repeatable framework for moving therapies from discovery to patients faster and at greater scale. The initiative launches with an initial portfolio across 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, MBA, Chief Executive Officer of EB Research Partnership and Co-Founder 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 artificial intelligence, 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 help establish foundational infrastructure, patient data platforms, basic and translational research programs, therapeutic development capabilities, clinical trial innovation, and strategic partnerships across academia, industry, and healthcare. Philanthropic support for vision science at Pitt also continues through the Eye & Ear Foundation, which raises dollars specifically for research and care in the University of Pittsburgh’s Departments of Ophthalmology and Otolaryngology, including work at the UPMC Vision Institute.
“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.”
A Shared Vision in Pittsburgh
Pittsburgh was chosen as the home of Rare Ventures for its concentration of strengths across artificial intelligence, life sciences, clinical research, advanced manufacturing, and translational medicine. Partners include University of Pittsburgh Health Sciences, UPMC Children’s Hospital of Pittsburgh, the UPMC Vision Institute, Carnegie Mellon University, Stanford Medicine, ElevateBio, and industry collaborators in biotechnology and advanced therapeutics.
At the center is a shared vision: a coordinated system that can transform 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, Co-Founders of the EB Research Partnership, Rock and Roll Hall of Fame inductees, 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 on Curator™, an AI-powered, genomics-driven patient platform developed with leading technology and academic partners. Curator is designed to connect patients with specialists, clinical trials, and research opportunities while giving researchers and industry 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, MD, PhD, 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 across genetic, pediatric, neurological, and metabolic disease areas, and pioneering work in inherited retinal diseases and vision restoration led from the UPMC Vision Institute.
Artificial intelligence and data science are central to the strategy, drawing on Pittsburgh’s standing as a global leader in AI research and technology.
“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, PhD, Glen de Vries Dean of the Mellon College of Science at Carnegie Mellon University. “Rare Ventures represents an exciting opportunity to bring together expertise across disciplines to tackle some of the most difficult challenges in healthcare.”
Rare Ventures will also benefit from Pittsburgh’s growing leadership in advanced biomanufacturing. The Richard King Mellon Foundation has long supported Dr. Sahel and vision research, and backed the creation of Pitt BioForge, a $100 million cell and gene therapy biomanufacturing center developed by ElevateBio and the University of Pittsburgh. Together, these investments strengthen Pittsburgh’s position as a national destination for therapeutic innovation, translation, and commercialization.
Over time, Rare Ventures aims for a self-sustaining model in which philanthropic capital, venture philanthropy returns, industry partnerships, and platform infrastructure continuously generate resources for future therapeutic development, a scalable engine across hundreds of rare diseases and a blueprint for 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.”
Support Vision Research
To advance rare eye disease research and vision restoration at the UPMC Vision Institute, consider a gift to the Eye & Ear Foundation. Your support helps faculty move discoveries from the bench toward patients who need them most. Learn more at eyeandear.org and ophthalmology.pitt.edu.
About the UPMC Vision Institute
Founded in 2023 under Dr. Sahel’s leadership, the UPMC Vision Institute at the Mercy Pavilion is a state-of-the-art facility in Pittsburgh’s Uptown neighborhood. Resources include:
• 410,000 square feet of clinical and research space
• A dedicated clinical trials center
• Cutting-edge biotherapy treatments
• Patient-centered resources, including a life skills apartment, street lab, and rooftop sensory garden
• Complete low-vision rehabilitation technologies and services
• Enhanced and proactive screening and care for underserved populations
The Institute’s Retinal Dystrophy Clinic is a national leader in gene-based treatments. It is an approved center for Luxturna, the FDA-approved gene therapy for RPE65-related retinal dystrophy and participates in numerous clinical trials under Dr. Sahel’s leadership. University of Pittsburgh researchers and collaborators are also advancing emerging therapies, including optogenetics, which has shown early success in restoring functional vision in patients with advanced photoreceptor degeneration, and retinal prosthetics such as the PRIMA chip. Care is delivered by a world-class team of retina specialists, surgeons, geneticists, and rehabilitation experts.
About the Eye & Ear Foundation
The Eye & Ear Foundation is a nonprofit organization that raises philanthropic support for the University of Pittsburgh’s Departments of Ophthalmology and Otolaryngology-Head & Neck Surgery. The Foundation advances discovery and collaboration in vision restoration and rare ophthalmic diseases, helping accelerate new treatments and cures that improve how people see and live.
About the Richard King Mellon Foundation
Founded in 1947, the Richard King Mellon Foundation is the largest foundation in Southwestern Pennsylvania and one of the 50 largest in the world. The Foundation’s 2025 year-end net assets were $3.3 billion, and its Trustees in 2025 disbursed more than $167 million in grants and program-related investments. The Foundation focuses its funding on six primary program areas delineated in its 2021-2030 Strategic Plan.
About EB Research Partnership
EB Research Partnership (EBRP) is the world’s largest nonprofit funder dedicated to epidermolysis bullosa research. Through its pioneering venture philanthropy model, EBRP funds high-impact research, invests in therapeutic development, and reinvests financial returns into future cures. EBRP’s mission is to cure EB and create a blueprint for accelerating treatments across rare diseases.
About the University of Pittsburgh Health Sciences
The University of Pittsburgh looks to its schools of the health sciences to propel scientific discovery and clinical innovation and to educate future researchers, physicians, health care providers, and leaders. Pitt Health Sciences comprises schools of medicine, dental medicine, health and rehabilitation sciences, nursing, pharmacy, and public health, working in close collaboration with UPMC. In fiscal year 2025, the University of Pittsburgh ranked seventh in the nation for NIH funding, with more than 94% of that funding awarded to the health sciences. The University’s total annual research budget exceeds $1.5 billion.
About UPMC
UPMC is a world-renowned, nonprofit health care provider and insurer committed to exceptional, people-centered care and community services. Headquartered in Pittsburgh and affiliated with the University of Pittsburgh Schools of the Health Sciences, UPMC provides nearly $2 billion annually in community benefits. More than 100,000 employees, including more than 5,000 physicians, care for patients across more than 40 hospitals and 800 outpatient sites in Pennsylvania, New York, and Maryland, as well as overseas. UPMC Insurance Services covers more than 4 million members. Learn more at UPMC.com.