Rare Genetic Disorders In Peril Amid Latest U.S. Research Budget Cuts

Amongst the political shockwaves that have to date characterized President Donald Trump’s first few weeks back in the Oval Office, it is likely to be the proposed changes to medical research funding that have resulted in the greatest consternation for scientists and those living with incurable medical conditions.

On February 7 the National Institute of Health the federal government’s medical research arm and the largest funder of biomedical research globally announced planned changes to how it awards indirect costs. In medical research, indirect costs account for elements such as laboratory heating, lighting, plumbing, cleaning, IT services and other aspects related to facilities and maintenance. Indirect costs are traditionally negotiated with the NIH in advance and awarded to universities or other research institutions as a supplemental percentage of the total grant. In many cases, this may amount to around 25-30% of the project costs. According to the NIH, it spent some $9 billion on indirect costs in 2023 and $26 billion on direct costs which might include the procurement of pharmaceuticals, sourcing study participants and salaries.

Under the new plans, indirect costs are to be capped at 15%. This is significantly below the threshold required by many institutions but the NIH claimed it could yield cost savings of up to $4 billion.

The announcement was met with dismay by many research leaders and the policy itself is now on hold thanks to a legal challenge mounted by a coalition of blue states, university associations and research advocacy groups. In her ruling last week placing an injunction on the NIH’s plans U.S. District Court Judge Angel Kelley appeared to uphold the widely-held scientific consensus that, though the way medical research is funded should always be subject to scrutiny, these changes appear to be being rushed through and risk jeopardizing decades of vital research if not approached with due caution and pacing.

Despite this reprieve, the NIH supported by the federal government will challenge the ruling amidst a combustible political backdrop of a U.S. President continuing to argue that his legislative agenda is being stymied by political opponents. Meanwhile, the matter has also become entangled within the ongoing backlash against diversity, equity and inclusion programs with some on the right alleging that indirect costs have been used to fund DEI initiatives.

Significant concern

Amongst the ranks of patient advocacy groups who have been quick to condemn the cuts is the Muscular Dystrophy Association which represents over 300,000 individuals living with conditions like ALS, Duchenne muscular dystrophy, spinal muscular atrophy and many other rarer variants of neuromuscular disease.

In quotes provided over email, Sharon Hesterlee, PhD, Chief Research Officer for the Muscular Dystrophy Association said, “If these policies remain in place, they will dismantle the foundation of biomedical research—undermining decades of progress, shutting down critical collaborations, and halting the discovery pipeline that turns scientific breakthroughs into life-saving treatments for neuromuscular disease patients.”

Of course, the argument in favor of capping indirect costs is that it will ultimately leave more funding available for projects that may previously have received no backing at all. However, Paul Melmeyer the MDA’s VP of Public Policy and Advocacy believes that this amounts to flawed logic.

“The issue is that if the NIH is giving grants that are inadequate to fund the research that’s happening at these universities because they’re capping the indirect cost coverage at 15%, by spreading it out further, you’re just going to be handing out more inadequate grants,” Melmeyer says.

He further adds, “This will certainly affect all areas of medical research but I would surmise that this will affect disease areas more that are just inherently and generally underfunded. There’s a lot more funding in cancer and Alzheimer’s, than there is for that rare genetic disease that might only have two or three research projects funded by the NIH across the entire United States. Those are the areas we’re especially concerned with, because if those go away, if the university can’t afford to run them anymore, then disease research in those areas halts entirely.”

Living in hope

Those who often get lost amidst the political wrangling, despite ultimately having the the most to lose are the patients themselves.

Kelly Berger and Avery Roberts are rare disease advocates and both live with an ultra-rare condition known as Collagen VI, Congenital Muscular Dystrophy.

“Living with a rare disease, my hope for future treatments comes from the passionate team at the NIH who are dedicated to finding answers and creating breakthroughs for the rare community. Without their willingness to shed light and provide answers to those living rare, we would be forgotten and face more detrimental setbacks that could include loss of potential treatments or therapies. Any progress could greatly improve my quality of life. Thinking about having that stripped away and erasing years of advancements has me extremely fearful,” says Berger who lives in Cincinnati, Ohio and serves as Community Engagement Manager for the rare disease neuromuscular nonprofit, Cure CMD.

Roberts meanwhile, from New City, New York, who serves as Cure CMD’s Community Engagement Coordinator adds, “Medical research is not only mine but the rare disease community’s future. The work of the NIH is what gives us hope for life-changing treatments, ensuring that more than 95% of rare diseases that lack an FDA-approved treatment are not overlooked. As we sit on the cusp of groundbreaking advancements in rare disease research, this news directly impacts rare disease-affected individuals, including myself.”

In the end, many adults who have been living for a long time with complex neuromuscular, neurological and genetic disorders are not necessarily expecting miracle cures to be just around the corner. Nevertheless, there is comfort in knowing that there is an army of scientists and researchers carrying out crucial foundational work with the hope of alleviating suffering for this generation and the next. Ultimately, any deceleration in research that pushes back on cruel, unforgiving and insufficiently understood diseases is likely to represent a wholesale societal loss and not just one that impacts desperate families in the here and now.