MINNEAPOLIS/ST. PAUL (02/29/2024) — Rare Disease Day is observed across the world to raise awareness for quality health care, equitable social opportunities and access to diagnosis for those with rare diseases. The day aims to generate discussion for people affected by rare diseases as well as the health care systems that serve them, advocating for change and awareness for all affected.

For Rare Disease Day 2024, Troy Lund, MD, PhD, with the University of Minnesota Medical School and M Health Fairview, discusses rare diseases and his work at the University to progress the field.

Q: What is a rare disease?
Dr. Lund:
The official definition of a rare disease used in the medical community is one that affects less than 1 in 200,000 individuals. People with rare diseases, as well as their families and caregivers, can face unique challenges such as difficulty in obtaining accurate diagnosis, lack of treatment options and limited support networks. Due to limited research and understanding, many rare diseases lack an effective therapy or cure. Understanding the molecular and genetic basis of rare diseases through research can lead to breakthroughs that not only benefit individuals with rare conditions but also contribute to broader medical knowledge and advancements.

Q: What causes rare diseases and when are they usually diagnosed?
Dr. Lund:
Rare diseases are most often inherited genetically. They can be diagnosed anytime from the newborn period to adulthood. Historically, rare diseases have been diagnosed after symptoms of the disease have already started.

Some of the most frequent rare diseases I see in my practice are adrenoleukodystrophy, a genetic neurological condition that affects the brain’s nerve cells; mucopolysaccharidosis-based storage disorders in which sugars in the body are not broken down correctly and cause abnormalities throughout the body and brain; metachromatic leukodystrophy, in which a mutated enzyme causes damage to the brain and spinal cord; Sandhoff disease, in which nerve cells in the brain and spinal cord progressively degrade; and various childhood cancers which are considered rare diseases. Many of these are inherited genetically, except childhood cancers which are often more “spontaneous” in origin and seem to occur without an inherited gene defect.

Q: How are rare diseases treated?
Dr. Lund: 
There are a lot of different rare diseases and a variety of ways they are treated. Diseases like childhood cancers can have multiple treatment options available. Some are treated with bone marrow transplants, some with gene therapy, though many rare diseases have no treatment. Families work with their specialized physicians and care teams to approach each case individually and seek access to academic clinical trials from private companies or the National Institutes of Health.

Q: Why are treatments for rare diseases hard to come by and how can the public support funding scientific advancements in this space?
Dr. Lund:
Treating rare diseases is difficult for many reasons. Given their rarity, it is often hard to understand the biology behind rare diseases as there are so few individuals to learn from. Oftentimes there can be symptoms of a rare disease we don't understand. It's also hard to get biotech investment in rare diseases because it's difficult and expensive to get a therapy to market and keep it viable in terms of covering costs of manufacturing and delivery.

For these reasons, public support is invaluable for research, learning disease-specific biology, making discoveries and developing medicines for rare diseases. These are expensive endeavors but have an excellent return on investment for the affected families.

Q: What work is being done at U of M to develop treatments for rare diseases?
Dr. Lund:
The work at the U of M in rare diseases is unparalleled in its breadth and depth. We work on everything from basic disease biology, first-in-human studies and clinical trials, and biomarker discovery of predictors for outcomes after treatment of rare diseases. Fundamental laboratory-based research discovers the basic biological processes involved in rare diseases – trying to figure out what went wrong and why; then trying to fix it. Our goal is ultimately to improve the quality of life for those with rare diseases, especially children — which is where we focus our energy every day.

Dr. Troy Lund is an associate professor at the University of Minnesota Medical School and a pediatric blood and marrow transplant physician with M Health Fairview. He is a faculty member in the Division of Pediatric Blood and Marrow Transplantation & Cellular Therapy. Dr. Lund is interested in the use of hematopoietic stem cell transplantation (HSCT) primarily for patients with inherited metabolic disorders, like Adrenoleukodystrophy (ALD), Hurler syndrome (MPS-1H), Hunter syndrome, Metachromatic Leukodystrophy (MLD) and others. He studies disease onset, disease biomarkers, disease mechanism and how HSCT improves these diseases. His work, both in his research laboratory and with his patients, has created many new treatment approaches, ultimately making HSCT safer and more effective.


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