February marks the beginning of Rare Disease Month where we, along with Rare Disease Day (February 28), honor the millions of patients and families living with conditions that are often difficult to diagnose, challenging to treat and profoundly isolating.


Behind every statistic is a child, a parent or a caregiver hoping for progress.

Turning Science into Real Treatments

California’s life sciences ecosystem plays a critical role in advancing treatments for rare diseases, often where options did not previously exist. Companies across the state are translating cutting-edge science into real therapies that are changing lives.

BioMarin Pharmaceutical is one of many industry companies leading the development of enzyme replacement and gene-targeted therapies for rare genetic conditions. Its approved treatments include Vimizim for Morquio A syndrome, Naglazyme for Maroteaux-Lamy syndrome, Aldurazyme for Hurler syndrome, and Voxzogo for children with achondroplasia. These therapies can improve growth, mobility, endurance, and daily functioning, helping patients live more independent lives and reducing the long-term burden of disease.

Travere Therapeutics focuses on developing therapies targeting rare kidney and metabolic diseases that often progress silently until serious damage has occurred. Their treatment, Thiola, is used to manage cystinuria, a rare genetic condition that causes recurrent kidney stones, while Chenodal treats cerebrotendinous xanthomatosis (CTX), a rare metabolic disorder that can lead to progressive neurological damage if left untreated. By addressing the underlying causes of disease, these therapies help prevent irreversible complications and preserve long-term health.

Ultragenyx is dedicated to developing therapies for rare genetic diseases, including conditions affecting very small patient populations. Its portfolio includes Crysvita for X-linked hypophosphatemia, Mepsevii for mucopolysaccharidosis type VII, Dojolvi for long-chain fatty acid oxidation disorders, and Evkeeza for homozygous familial hypercholesterolemia.

For many patients, these treatments represent the first FDA-approved option available, offering improved outcomes and, in some cases, life-saving intervention. These treatments are more than scientific milestones – they represent first-ever therapies, fewer emergency visits, the ability to attend school or work, and the possibility of planning for the future. These advances are possible because companies are willing to invest in rare disease research, despite small patient populations, complex clinical trials and greater scientific risk.

A Law Designed to Help Patients

More than 40 years ago, Congress recognized that rare disease patients were being left behind. In response, lawmakers passed the Orphan Drug Act in 1983. At the time, fewer than 30 treatments existed for rare diseases.

The goal of the law was simple: encourage companies to develop medicines for small patient populations by offering support that helps offset the cost and risk of research. Since then, the impact has been dramatic. Patients now have access to hundreds of approved treatments for rare diseases that once had none.

One part of this law is the Orphan Drug Tax Credit, a federal incentive which helps companies cover some of the cost of running clinical trials. This support makes it more feasible to study rare diseases, especially for smaller companies. Recent congressional proposals threaten to further weaken the incentive, which was already reduced from a 50% tax credit to 25% in 2017.

Another important government program is the Rare Pediatric Disease Priority Review Voucher Program (RPD-PRV) which was recently reauthorized. The RPD-PRV incentivizes companies to develop treatments for rare childhood diseases. For families facing life-threatening conditions, faster access to therapies can make a meaningful difference.

Why These Programs Matter Today

Even with the progress made by California’s life science industry and beyond, most rare disease patients are still waiting for treatments. Research remains complex and expensive, and as noted above, some existing programs that support rare disease development have already been scaled back. Further cuts could slow or stop critical research and market access for treatments that patients are counting on.

Protecting these programs ensures that patients continue to see new options, new clinical trials, and new hope.

How You Can Help

This Rare Disease Month, patients and families have an opportunity to speak up. Biocom has launched an Action Alert urging Congress to protect the policies that make rare disease research possible. Protecting the Orphan Drug Tax Credit is central to Biocom’s advocacy agenda, and our Washington, DC office has been and will continue to be actively engaged in advancing and defending this program on Capitol Hill.

Take action here: Urge Congress to Protect the Orphan Drug Tax Credit

When policies support rare disease research, patients benefit directly. As we recognize Rare Disease Month and Rare Disease Day, we are reminded that progress happens when science, compassion, and patient voices come together.