Five Reasons Why Philanthropists Should Invest in Rare Disease Research

While philanthropic investment in any area of biomedical research or health care is worthwhile when done strategically, rare diseases are especially compelling targets for philanthropic dollars. The 2025 Milken Institute Future of Health Summit panel discussion, “From Risk to Reward: Advancing Drug Development for Rare Disease,” held last month, highlighted the current state of rapid growth and innovation in the rare disease field, making this a particularly opportune time to give and make an impact. Cross-disorder collaboration, resource pooling, agile clinical trial design, and breakthroughs in genetic therapies are transforming what is possible. Moreover, philanthropists can leverage innovative funding approaches—such as impact investments in rare disease-focused pharmaceutical companies and regenerative philanthropy through nonprofit organizations—to further catalyze progress. 

Within the Milken Institute's Strategic Philanthropy pillar, the Science Philanthropy Accelerator for Research and Collaboration (SPARC) partners with philanthropic funders across the science ecosystem to design giving strategies that will transform the rare disease landscape. Here are five reasons to consider investing in this space:

1. Broad impact beyond a single disorder: Scientific discoveries in rare diseases can also shed light on other conditions—both rare and common alike. For instance, discovering how a certain gene causes a rare disease can reveal how the affected biological process might be involved in other conditions. A prime example is Li-Fraumeni syndrome, which carries a high risk of developing cancer at younger-than-average ages. When researchers identified gene mutations that contribute to Li-Fraumeni, those same mutations were later found to play a role in the more common setting of developing cancers unrelated to this syndrome. Thus, funding research in rare diseases can often yield insights into fundamental biological processes that apply to more common diseases, paving the way for new treatments and diagnostic tools for both types of disease.
2. Smaller strategic investments can still have an outsized impact: Relatively conservative amounts of strategically applied philanthropic funding can jumpstart knowledge of and treatment development for rare disease, which is not typically the case with funding for research in more common conditions. For example, research in Parkinson’s disease (a common condition) garnered approximately $309.1 million from the Michael J. Fox Foundation over just two months in April and May of 2024, whereas most nonprofit foundations focused on rare disease operate with an annual budget of less than $1 million. While larger sums of funding would accelerate progress further, new funding of virtually any amount, when thoughtfully allocated, can initiate and sustain progress for rare diseases where there was none before. Targeted investments can support early research milestones—such as pilot studies, developing an animal model of the disorder, or creating a patient database—that are necessary to attract more robust follow-on funding, including federal research grants or interest from pharmaceutical companies.
3. Lower risk, higher reward: Unlike more common conditions that hundreds of researchers have studied for decades, many aspects of rare diseases may remain unexplored due to a lack of funding. This leaves “low-hanging fruit” to be uncovered by scientists—the early yet crucial scientific discoveries about a disorder that require relatively modest funding and time. Thus, investment in rare diseases with scant research precedent can be considered a relatively low-risk, high-reward opportunity compared to other philanthropic investments in the biomedical field, as it is likely to yield significant advancement.
4. An urgent need to save lives and support caregivers: The majority of rare diseases begin in childhood and can lead to devastating complications. For many such disorders, patients cannot survive past childhood, especially in the absence of disorder-specific treatments. Patients’ caregivers—often their parents—may endure profound physical and emotional distress from round-the-clock care duties, with few disorder-specific resources available. The financial impact on families, as well as the broader economic impact of all rare diseases, substantially adds to the overall disease burden. However, the small size of the patient population for any individual rare disease tends to disincentivize support from traditional channels, such as federal grant funding or interest from pharmaceutical companies. A deep need remains for other sources of investment, including philanthropy.
5. Contributing to a supportive community: Advocacy groups and nonprofit foundations focused on rare diseases are passionate, welcoming communities that embrace anyone interested in their efforts. These groups are always willing to share their stories and appreciate help when it is offered. While donors provide financial support, they may also help by increasing the group’s visibility, networking to identify additional donors, supporting efforts to fill clinical trials, or providing business or organizational expertise. Philanthropic funders who support these groups will inevitably become members of a tight-knit, fiercely goal-oriented community.

At a moment when scientific possibility and unmet need are converging, choosing to invest in rare disease research is not just generous—it is a chance to change lives and shape the future of medicine.

Of course, jumping into biomedical research philanthropy can be daunting for those without prior experience in science or medicine. Rare disease-specific foundations and patient advocacy groups can serve as a helpful starting point for potential funders seeking information about a disease and the needs of the patient community. For more guidance in deploying philanthropic funds to support rare disease research or other areas of science and health, the SPARC team can provide the expertise required to identify areas of need, develop a strategy, and implement funding mechanisms. The resulting approach reflects the philanthropist’s specific interests while ensuring that the investment achieves an outsized and lasting impact.