Better pediatric treatments needed
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A new Pittsburgh-based initiative is making a $25 million bet on a persistent problem in medicine: promising rare disease science too often fails to become a treatment.
The Richard King Mellon Foundation has committed up to $25 million over three years to launch Rare Ventures, a venture philanthropy platform led by the EB Research Partnership (EBRP). The initiative brings together the University of Pittsburgh Health Sciences, UPMC Children’s Hospital of Pittsburgh, the UPMC Vision Institute, Carnegie Mellon University, Stanford Medicine and ElevateBio. Its ambition is broader than funding research grants. Rare Ventures intends to connect patient data, artificial intelligence, translational science, clinical development, manufacturing and commercialization in one coordinated system.
Michael Hund, EBRP’s CEO and co-founder of Rare Ventures explained the urgency, “Rare disease patients have waited long enough.”
Rare diseases often do not suffer from a shortage of determined families or scientific ideas. However, the current fragmented development model favors work on conditions with bigger patient populations, deeper datasets and more predictable commercial returns.
Rare Diseases Are Collectively Common
In the United States, a rare disease is defined as affecting fewer than 200,000 people. Yet they are not rare when considered together. The FDA estimates that more than 10,000 rare diseases affect over 30 million Americans, roughly one in ten people, and about half of those patients are children.
Global estimates vary because countries use different definitions and many patients remain undiagnosed. A widely cited analysis of Orphanet data estimated that rare diseases affect 3.5% to 5.9% of the world’s population, or roughly 263 million to 446 million people using the study’s population base.
The treatment gap is even more striking. The National Institutes of Health has estimated that about 95% of rare diseases lack an FDA-approved treatment. This is thousands of separate unmet needs divided among small patient populations, few specialists and incomplete natural-history data.
Investment Goals
Rare Ventures will initially work across seven conditions, with epidermolysis bullosa, PACS1 syndrome and LMNB1-related adult-onset autosomal dominant leukodystrophy among those publicly identified. Partners bring complementary capabilities: clinical expertise and patient access, AI and computational biology, translational research, gene and cell therapy development, and advanced manufacturing.
The platform will also build on Curator, EBRP’s AI-powered, genomics-driven patient platform. It will connect patients with specialists, trials and research opportunities while helping qualified researchers recognize patterns and identify therapeutic opportunities.
The funding is meaningful as catalytic capital, but eventually more will be needed to carry therapies from discovery through approval. The opportunity is to build reusable capabilities, de-risk early programs and attract follow-on capital from industry, investors and other philanthropists.
Rare Ventures will build common infrastructure for a portfolio of otherwise isolated diseases, with plans to support hundreds of disease communities over time.
From Donations To Recyclable Capital
Venture philanthropy is similar to venture capital without distributing the upside to private limited partners. A nonprofit can fund high-risk research early, negotiate a return if the work succeeds commercially and recycle the proceeds into more research.
The model has been used by the Cystic Fibrosis Foundation. Rare Ventures is unusual in extending it across multiple diseases while combining data, clinical development and manufacturing in one platform.
EBRP offers an instructive proof point. According to its impact report, the organization has funded more than 180 research projects and helped expand the EB clinical-trial landscape from two active trials to more than 50. It has also helped accelerate the first three FDA-approved treatments for EB, two of which it directly funded through venture philanthropy.
The financial recycling is tangible. EBRP invested just over $800,000 in Krystal Biotech, whose topical gene therapy Vyjuvek was approved in 2023, and received more than $2 million back. A separate $500,000 investment in Stanford research later licensed to Abeona Therapeutics generated a roughly $3 million gain after the work led to Zevaskyn, approved in 2025. Those returns can fund more science rather than ending with a single grant cycle.
There are some expected risks with philanthropy. Early research may take a long time to demonstrate results. But successes can replenish capital, and philanthropists may fund promising work earlier than traditional investors because their first measure of return is patient impact.
Model Durability
The promise is considerable, but the operating details will matter to make Rare Ventures a durable model.
Transparent portfolio discipline is needed. Diseases and project selection criteria should be based on science and commercial feasibility. Success should be measured by milestones that matter to patients: trial readiness, faster enrollment, validated endpoints, therapies entering the clinic and treatments patients can access.
The platform must treat patient trust as essential infrastructure. Curator will be valuable when patients are willing to contribute sensitive clinical and genomic information. De-identification is important and confidentiality is critical. The National Human Genome Research Institute emphasizes informed consent, controlled access, community engagement, risk mitigation and benefit sharing when sensitive data are used.
Rare disease communities should have meaningful roles in governance. Patients need clear answers about who can use their data, for what purposes, under what security controls, how consent can change or be withdrawn and how commercial value will be shared. Trust is easier to preserve than to rebuild.
Researchers will be motivated by a fair and efficient system. Academic collaborators need workable intellectual-property terms, scientific credit, publication rights and a process faster than traditional multicenter bureaucracy. Data sharing should not penalize the people who generated the data.
Rare Ventures should connect approval to access. A therapy can succeed scientifically but face challenges if manufacturing is constrained, treatment centers are scarce or the price puts it beyond reach. Affordability and delivery should be considered early.
A Worthy Model
Rare Ventures is promising because it targets the machinery of rare disease development to create a portfolio of successes. The commitment can create leverage if it builds shared capabilities, draws in more capital and turns investments into renewable research funding.
The right approach is accountable optimism. Rare Ventures have the opportunity to leverage its founders’ successful history to combine venture discipline with patient-led governance, scientific rigor and a clear commitment to access, and offer a blueprint for many diseases.