Talking rare diseases with U of M

Rare Disease Day is observed every year on February 28 to raise awareness for quality health care, equitable social opportunities and access to diagnosis for the 300 million people living with a rare disease worldwide. 

For Rare Disease Day 2025, Reena Kartha, an associate professor in the College of Pharmacy, discusses rare diseases and the work she and the University do to advance our understanding of these conditions.

Q: What qualifies as a rare disease?

Dr. Kartha: In the United States, rare diseases are any condition affecting fewer than 200,000 people. These include conditions such as cystic fibrosis, muscular dystrophy and sickle cell anemia — currently, there are over 10,000 recognized rare diseases, impacting an estimated 30 million Americans. More than 80% of rare diseases have a genetic cause, meaning they are present at birth but may not be diagnosed until symptoms appear later in life. The remaining rare diseases may result from infections, environmental factors or immune system dysfunction. 

Q: Is it more difficult for people with rare diseases to get care?

Dr. Kartha: People living with rare diseases often face significant challenges in accessing appropriate care, beginning with delayed diagnoses. Because rare diseases are not well understood, it can take years to arrive at the correct diagnosis. Even after receiving a diagnosis, treatment options remain limited, as over 90% of rare diseases lack FDA-approved therapies. Finding specialists and insurance coverage pose additional challenges. Expertise is often concentrated in a few medical centers — necessitating long-distance travel for patients — and high costs for genetic testing, medications and specialized care increase the financial burden. Further, adequate investment in research and clinical trials is essential to the development of new treatments.

Q: Why are rare diseases harder to treat?

Dr. Kartha: Caring for patients with rare diseases is incredibly complex. Because rare diseases affect small populations, many doctors have limited experience with them, which leads to mistaken or delayed diagnoses. The lack of comprehensive literature and treatment guidelines complicates the development of effective care plans. Only 5% of rare diseases have an FDA-approved treatment, forcing providers to rely on trial-and-error approaches or off-label therapies. Many of these treatments are extremely costly, sometimes costing hundreds of thousands of dollars. Providers also need to navigate insurance systems to secure access to necessary treatments and specialists. Often, multiple specialists are required and coordinating such care can be challenging, placing a heavy burden on both doctors and patients.

Q: Why is raising awareness about rare diseases important?

Dr. Kartha: A recent study revealed that rare diseases collectively cost the U.S. hundreds of billions of dollars each year in medical expenses, lost productivity and caregiving. Due to the limited knowledge surrounding rare diseases, families undergo a diagnostic odyssey that can last more than five years. Delayed diagnoses and limited treatment options lead to increased hospitalizations and long-term care needs, placing a strain on both families and the healthcare system. Greater awareness promotes earlier detection and improved medical training, drives research funding and informs policies that alleviate financial and healthcare burdens. It can also encourage support for impacted individuals and families, reducing isolation and fostering advocacy efforts aimed at enhancing the lives of those affected by rare diseases.

Q: How is your research advancing understanding of rare diseases?

Dr. Kartha: My research focuses on inherited metabolic diseases, particularly lysosomal storage disorder Gaucher disease and adrenoleukodystrophy, a neurological disease that primarily affects boys and men. Notably, individuals with Gaucher disease have a higher risk of developing Parkinson's disease, suggesting that insights from rare diseases may assist in treating more common conditions. These genetic disorders lead to the production of defective proteins, resulting in a buildup of toxic waste in the body. This process triggers stress and inflammation, contributing to disease onset and progression of the disease. My team is developing treatments aimed at targeting these processes, which are common across rare diseases. Additionally, I am interested in identifying new biomarkers to support early diagnosis and prognosis, as well as to monitor treatment responses.

I’m also working to develop the next generation of health professionals, including teaching an undergraduate course that introduces students to rare diseases — to the best of my knowledge, this is a first-of-its-kind course to be offered for undergraduate students anywhere in the country. By providing experiential learning opportunities in collaboration with patient advocacy organizations, I aim to engage students in real-world public health challenges, encouraging them to think creatively and formulate solutions that benefit the community. 

Reena Kartha is the associate director for translational pharmacology in the Center for Orphan Drug Research (CODR) and an associate professor in the department of experimental and clinical pharmacology in the University of Minnesota College of Pharmacy. Her work in CODR focuses on developing therapies and novel biomarkers for rare diseases.

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About the College of Pharmacy

Founded in 1892, the University of Minnesota College of Pharmacy is the only pharmacy school in Minnesota, with campuses in the Twin Cities and in Duluth. In 2022, the University’s medical laboratory science and occupational therapy programs were integrated into the college. The medical laboratory science program is the only accredited four-year baccalaureate degree program in a public institution in the State of Minnesota, with students on the Twin Cities campus. The occupational therapy program is the only public doctoral-level program in Minnesota and one of the oldest OT programs in the United States, with campuses in the Twin Cities and Rochester. Collectively, these programs advance the college’s mission to improve health through innovative education, pioneering research and interdisciplinary practice development that attends to the diverse needs of the people of Minnesota and the world. Learn more at pharmacy.umn.edu.

About “Talking...with U of M”

“Talking...with U of M” is a resource whereby University of Minnesota faculty answer questions on current and other topics of general interest. Feel free to republish this content. If you would like to schedule an interview with the faculty member or have topics you’d like the University of Minnesota to explore for future “Talking...with U of M,” please contact University Public Relations at [email protected].