Few Foundations Are Backing Work on Sickle Cell Disease. It's Time for That to Change

During the past year, struggles to address institutional anti-Black racism have intensified, highlighting a host of systemic inequities. Medical research has not been exempt from those problems, and one glaring example can be seen in the state of research funding for a genetic condition that disproportionately affects Black people: sickle cell disease.

Sickle cell disease, or SCD, is the most common inherited blood disorder, affecting about 100,000 Americans and millions more worldwide. Technically a group of related disorders, SCD causes the body to produce atypical crescent-shaped red blood cells. These abnormal cells die early, causing a shortage of oxygen-carrying red blood cells. They also get stuck in small blood vessels due to their pointy shape. The disease causes severe pain, stroke, infection, damage to all major organs and to joints, and generally leads to life expectancies in the mid-40s. According to the CDC, the disease occurs in approximately one out of every 365 African American births, and in one out of every 16,300 Hispanic-American births.

And in the United States, but for one foundation, mainstream philanthropy has pretty much ignored SCD research and care.

An article published in the journal JAMA in 2020 provides a clear picture of the historical inequities surrounding research funding for sickle cell disease. The study compared funding for SCD and cystic fibrosis, also an inherited disorder with a similar scale of impact, but one that’s not historically associated with Black people. The study has contributed to renewed calls for focus on SCD research.

“Although SCD affects three times as many people as cystic fibrosis, the two diseases received approximately similar amounts of federal research funding from 2008 to 2018,” wrote physician Philip Ozuah, reviewing the study in an editorial in JAMA Pediatrics. “The real shock, though, is the gap in disease-specific foundation funding for the same period. The total for SCD was a little over $9 million; for cystic fibrosis, the total was $231 million.”

The inescapable conclusion is that race plays a major role in this funding disparity, an inequitable state of affairs that’s past due for a fix. For reasons both moral and scientific, it’s something philanthropy leaders should consider as they develop medical research priorities during the coming years. It’s worth noting that philanthropic funding for cystic fibrosis contributed to the development of breakthrough therapies for that disease—life-changing improvements for people with the condition. Due to advances in gene therapies, SCD appears poised for similar breakthroughs. But philanthropy still has a role to play.

In the past, occasional funding for SCD has come from philanthropic funders that don’t count the condition among their core interests, including the Robert Wood Johnson Foundation, the Thrasher Research Fund, and more recently, the Bill & Melinda Gates Foundation. But when it comes to programmatic philanthropy for SCD, the Doris Duke Charitable Foundation is essentially the only game in town. It has been supporting SCD research since 2008, and has so far invested about $17 million total in that dozen or so years, across some 35 projects, said Dr. Sindy Escobar Alvarez, program director for medical research at DDCF. The organization’s focus on sickle cell tracks directly back to founder Doris Duke, who expressly directed in her will that the foundation address the disease.

Public-sector funding for SCD dwarfs philanthropic giving. The National Institutes of Health (NIH) has been the country’s biggest source of sickle cell research support, spending more than $1 billion since 1972, when the National Sickle Cell Anemia Control Act was passed. In 2019, the NIH announced plans to invest $100 million or more over the subsequent four years to develop affordable, gene-based cures for SCD and HIV. The Gates Foundation is contributing $100 million to the program, in part to ensure that the treatments are accessible to people in sub-Saharan Africa. Recently, some pharmaceutical industry companies are also bringing new interest and resources to SCD research.

One treatment that has actually cured people of SCD is bone marrow transplants, but that’s a grueling and dangerous process, with work still to be done to determine its best uses and which patients can most benefit. More recently, Alvarez said, DDCF has directed funds to newer and potentially revolutionary research in CRISPR gene-editing and gene therapy approaches. These methods aim to give SCD patients their own ability to make healthy red blood cells. It’s an exciting prospect, but a great deal of clinical research is required before the treatments make it to the general patient population.

The increased funding from the feds is great news for the SCD community. But as philanthropists and foundation professionals involved in medical research regularly note, philanthropy has a key role to play alongside big sums from the government, whether by supporting early-career researchers or backing bold new ideas that are unlikely to secure risk-averse public funding.

There’s also ample opportunity for philanthropy to help people with SCD right now. For example, there are only a handful of approved medicines for SCD. In many countries, including in sub-Saharan Africa where SCD is a particular burden, many patients lack access to the drugs. Philanthropy can address that.

All this progress and promise in the laboratory means American philanthropy has not only a chance to correct a longstanding error of omission in its underfunding of SCD, but an opportunity to participate in the development of much-needed new treatments and possible cures—all of which will have the additional benefit of advancing the development of gene therapies for other diseases.

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