Funding Reductions Hazard Rare Gene Disorders in U.S., Threatening Ongoing Studies
A brash twist in medical research funding:
In the whirlwind of controversial moves that President Donald Trump's second term has seen, the proposition to restructure medical research funding has stirred considerable dissent among scientists and those battling incurable health conditions.
On Feb 7, the National Institute of Health (NIH), the federal government's primary medical research arm and the globe's largest funder of biomedical research, unveiled planned changes to the methodology of awarding indirect costs. Indirect costs cover expenses like laboratory heating, lighting, plumbing, cleaning, IT services, and other facility and maintenance-related aspects. These costs are usually negotiated with the NIH in advance and are given to universities or research institutions as a supplemental percentage of the total grant. In many cases, this might amount to around 25-30% of the project costs. According to the NIH, they splurged approximately $9 billion on indirect costs in 2023 and around $26 billion on direct costs, which could include pharmaceuticals procurement, study participant sourcing, and salaries.
Under the new plans, the cap on indirect costs has been set at 15%. This is significantly lower than the threshold required by many institutions, but the NIH claims it could save up to $4 billion.
The announcement was met with dismay by many research leaders, and the policy has temporarily been halted due to a legal challenge lodged by a coalition of blue states, university associations, and research advocacy groups. In her ruling last week, U.S. District Court Judge Angel Kelley appears to have endorse the widely-held scientific consensus that, while the funding mechanism for medical research should always be subject to scrutiny, these changes seem to be being rushed through and could potentially jeopardize decades of vital research if not carefully implemented.
Despite this reprieve, the NIH, backed by the federal government, will challenge the ruling amidst a volatile political environment marked by a U.S. President continuing to claim that his legislative agenda is being obstructed by political adversaries. Moreover, the issue has become intertwined with the ongoing backlash against diversity, equity, and inclusion programs, with some on the right alleging that indirect costs have been used to finance DEI initiatives.
Research vs Resources: A Tightrope Act
Among the ranks of patient advocacy groups rallying against the cuts is the Muscular Dystrophy Association (MDA), representing over 300,000 individuals dealing with conditions like ALS, Duchenne muscular dystrophy, spinal muscular atrophy, and various other neuromuscular diseases.
Sharon Hesterlee, PhD, MDA's Chief Research Officer, expressed her concerns in an email statement: "If these policies persist, they will dismantle the foundation of biomedical research—undermining decades of progress, shutting down crucial collaborations, and halting the discovery pipeline that transforms scientific breakthroughs into life-saving treatments for neuromuscular disease patients."
While the argument for capping indirect costs is that it will spare more funding for projects that may have otherwise gone unsupported, Paul Melmeyer, MDA's VP of Public Policy and Advocacy, believes this rationale is flawed.
"If the NIH is giving insufficient grants to universities because they're capping the indirect cost coverage at 15%, by spreading the funds more thinly, you're simply dishing out more inadequate grants," Melmeyer explains.
He further asserts, "This move could impact all areas of medical research, but I would anticipate that smaller, underfunded disease areas would be most affected. There is ample funding for cancer and Alzheimer's research, compared to a rare genetic disease that may have only a handful of research projects funded by the NIH across the USA. Those are the areas we're particularly concerned with, as any closures could halt rare disease research entirely."
Living in Hope: The Patient Perspective
Those often sidelined amidst the political flurry, despite having the most to lose, are the patients themselves.
Kelly Berger and Avery Roberts both live with an ultra-rare condition called Collagen VI, Congenital Muscular Dystrophy.
"Living with a rare disease, my hope for future treatments hinges on the dedicated team at the NIH who are striving to uncover answers and breakthroughs for the rare community. Without their unwavering commitment to illuminating facts and providing answers for the rare community, we would be neglected and face more detrimental setbacks, potentially losing access to potential treatments or therapies. Any progress could significantly improve the quality of my life. The thought of losing years of advancement sparks deep-rooted fear," says Berger, who hails from Cincinnati, Ohio, and serves as Community Engagement Manager for the rare disease neuromuscular nonprofit, Cure CMD.
Roberts, from New City, New York, and Cure CMD's Community Engagement Coordinator, adds, "Medical research transcends mine and the rare disease community's present, offering hope for transformative treatments. The work of the NIH is our beacon of hope, ensuring that more than 95% of rare diseases without an FDA-approved treatment will not go unnoticed. As we stand on the brink of groundbreaking advancements in rare disease research, this news presents an immediate threat to rare disease-affected individuals, including myself."
In the end, many adults who have lived with complex neuromuscular, neurological, and genetic disorders for extended periods are not expecting miracle cures to be just around the corner. Nevertheless, there is solace in knowing that an army of scientists and researchers is working tirelessly to address the root causes of these ailments with the hope of alleviating suffering for this generation and the next. Ultimately, any delay in research that pushes back on merciless, unfathomable, and poorly understood diseases may represent a societal loss that extends beyond desperate families in the here and now.
- Despite President Donald Trump's administration's proposed changes to medical research funding, Sharon Hesterlee, the Chief Research Officer at the Muscular Dystrophy Association (MDA), surmises that these changes, if implemented, could undermine decades of progress in neuromuscular disease research.
- In the face of the potential restructuring of medical research funding, Paul Melmeyer, the MDA's Vice President of Public Policy and Advocacy, argues that capping indirect costs could lead to more inadequate grants and disproportionately impact underfunded research areas, such as those for rare genetic diseases.
- Kelly Berger, living with an ultra-rare condition called Collagen VI, Congenital Muscular Dystrophy, and Avery Roberts, both advocates for the rare disease neuromuscular nonprofit, Cure CMD, believe that any delay in research due to changes in medical research funding could represent a significant societal loss for individuals living with rare and incurable diseases, as the work of the National Institute of Health (NIH) holds the potential for transformative treatments.