Simple vitamins could unlock therapies for rare diseases if dosed correctly

A new study suggests that some genetic diseases may be treatable with carefully matched vitamins, including a rare and often fatal childhood disorder that showed a dramatic response to vitamin B3.

Researchers at the Gladstone Institutes in San Francisco have taken an unconventional approach to finding treatments for inherited diseases, as highlighted by the SciTechDaily outlet. 

Instead of starting with a specific condition and searching for a drug, they began with vitamins and systematically mapped which genetic disorders might respond to high-dose supplementation.

Using this strategy, the team discovered that vitamin B3 (niacin) effectively treated NAXD deficiency in mice, which is a extremely rare but severe disorder. Affected children typically die within the first months of life. In a new mouse model, vitamin B3 treatment increased survival more than 40-fold and reversed key disease symptoms.

The research also identified dozens of other genetic conditions that may respond to vitamin B2 or B3, raising the possibility of low-cost, widely available therapies for some rare diseases if future studies confirm the findings.

“Our goal is to revisit classical vitamin biology with causal and rigorous frameworks,” says Isha Jain, senior author of the study published in Cell. “Rather than randomly supplementing vitamins, we’re using modern genetics to systematically identify which diseases can be treated with which vitamin.”

Where vitamin therapy went off track

In the early 20th century, researchers established that vitamin deficiencies caused diseases such as scurvy and beriberi, discoveries that helped earn several Nobel Prizes. But in recent decades, the widespread availability of supplements has led to more indiscriminate use, often without clear medical need.

Jain, who is also a core investigator at the Arc Institute and an associate professor at UC San Francisco, argues that vitamin biology still holds largely untapped therapeutic potential. Her work received a prestigious NIH Transformative Research Award to expand this line of investigation.

Her lab developed a screening method using CRISPR gene editing: they removed specific genes from human cells and then tested whether vitamin exposure improved cell survival or function.

When screened against vitamin B3, cells lacking the NAXD gene showed markedly improved survival under high-vitamin conditions. In humans, mutations in NAXD cause severe developmental impairment and early death.

“Our screen suggested that something as simple as giving vitamin B3 could make a difference for human patients,” says co-first author Ankur Garg.

By Nazrin Sadigova