The rules of the “ice-bucket challenge” were simple: Film yourself getting drenched with ice water, and use the viral video to spur awareness of amyotrophic lateral sclerosis and donations to research, via the ALS Association. The fundraising idea, which began in the summer of 2014, raised $115 million by the end of that year. In 2016, scientists credited the new funding with helping them discover a new gene linked to the disease.
Not all genetic diseases, however, so successfully capture the public imagination. Despite being one of the most common genetic diseases in the country, sickle-cell disease (SCD) has garnered far less attention—and funding—than comparable genetic diseases. In 2015, the Sickle Cell Disease Association of America, the leading U.S. nonprofit, reported total revenue of less than $2 million.
On Feb. 28, Democratic Sen. Cory Booker and Republican Sen. Tim Scott introduced a bill meant to kick-start SCD research. The Sickle Cell Disease Research, Surveillance, Prevention and Treatment Act would allocate a yearly sum of $4.5 million, to be distributed through Health and Human Services Department grants. Funding would go toward data collection, public health initiatives, and “strategies for SCD prevention and treatment.” The bill would also fund the Sickle Cell Disease Treatment Demonstration Program, an initiative to coordinate sickle-cell treatment efforts, through 2022.
“This piece of legislation,” Scott said, “codifies prevention and data-collection efforts” that might produce “life-altering changes.” Scott said he is in talks with Senate Health, Education, Labor, and Pensions Committee staff “to ensure it is brought up for consideration soon.”
SCD, also known as sickle-cell anemia, is a notoriously painful illness that cripples the oxygen-carrying hemoglobin protein found in red blood cells. Symptoms include intense fatigue, infections, and searing bouts of pain called “crises.” Roughly 90 percent of SCD patients in the United States—at least 100,000, although the exact figure is not known—are African-American, and people of South American, Middle Eastern, or South Asian ancestry are also at higher risk.
According to SCD experts, these demographics likely account for the historical lack of support for SCD-specific research. John Strouse, a researcher at Duke University and a principal investigator on a program that receives funding from HHS, said that pharmaceutical companies, private philanthropists, and the federal government typically won’t invest in research for diseases that “disproportionately affect underrepresented minorities and people that are living in poverty.”
Mark Walters, director of the Blood and Marrow Transplantation Program at the University of California San Francisco’s Benioff Hospital in Oakland, concurred. “Diseases that affect minorities are rarer,” he said, “and they don’t always carry a high profit margin if you develop a new therapy.”
Booker and Scott, both African-American, have worked to raise awareness of SCD in the past. As mayor of Newark, New Jersey, Booker led sickle-cell marches to raise money. Last September, Scott introduced a resolution recognizing September as Sickle Cell Disease Awareness Month. It passed the Senate unanimously.
But the lawmakers face an uphill battle. For the past 30 years, overall life expectancy for sickle-cell patients has remained flat—the Centers for Disease Control and Prevention puts the current figure at somewhere between 40 and 60 years. The first Food and Drug Administration-approved medication specifically developed to treat sickle-cell disease, called Endari, hit the market only this past January.
At hospital emergency rooms, SCD patients face longer average wait times because nurses and doctors often don’t know how to diagnose the disease. Marqus Valentine, cofounder of the advocacy group Sick Cells and an SCD patient himself, recalled that when he once asked his nurse for more pain medication, she responded, “‘What, are you a drug addict or something?’”
Experts hope that some of the HHS grants could be used to fund SCD training for medical professionals, in order to improve patient care. Marsha Treadwell, regional director of the Pacific Sickle Cell Regional Collaborative at UCSF Benioff, thinks that better pain management is key to “keeping patients out of the ER.” In 2004, treatments for SCD cost the U.S. $488 million, a figure that is likely higher today.
The funding could also be used for telemedicine initiatives that could improve care for patients in poorer rural areas, a particularly hard-hit demographic. In the future, HHS grants could even fund innovative SCD research. Walters, for example, is preparing some of the first clinical trials in humans of CRISPR, a gene-editing tool that allows scientists to cut out disease-inducing genetic code. His team plans to target SCD, which results from a single mutation.
Still, without a large influx of funding from private donors or the pharmaceutical industry—or an “ice-bucket challenge” moment—further research into SCD is likely to remain underfunded. More funding “is better,” Strouse said, but he added that SCD researchers won’t get what they need “with a $4 million program.”
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