Rare Disease Day: Virginia Tech Research Illuminates Hope

On Saturday, February 28, 2026, the Wells Fargo Tower in Roanoke, Virginia, will glow in pink, green, purple, and blue – the official colors of Rare Disease Day – as a visible symbol of the ongoing research at Virginia Tech aimed at improving the lives of those affected by rare diseases. These conditions, defined as those impacting fewer than 200,000 people in the United States, collectively affect nearly 1 in 10 Americans, or approximately 30 million individuals, and carry a significant burden for patients and their families.

The Scope of Rare Diseases

While individually uncommon, rare diseases are not rare overall. The National Institutes of Health estimates that approximately 30 million people in the United States are living with a rare disease NIH. These disorders impact thousands of families in Virginia, particularly in the Roanoke and New River valleys, according to Michael Friedlander, Virginia Tech’s vice president for health sciences and technology and executive director of the Fralin Biomedical Research Institute at VTC.

“We are working across disciplines, with partner institutions, and coordinating our work with scientists across the globe,” said Friedlander, who also serves on the Virginia Department of Health’s Rare Disease Council Virginia Tech News. He emphasizes that research into these less common illnesses expands our understanding of human health, often leading to breakthroughs applicable to more prevalent conditions.

Virginia Tech Research Initiatives

Researchers at the Fralin Biomedical Research Institute at VTC are actively investigating a wide range of rare diseases. Here’s a glimpse into some of their work:

• Von Hippel-Lindau disease: John Chappell is studying this inherited disorder characterized by abnormal tumor and cyst growth Virginia Tech News.
• Genetic Neuromotor Movement Disorders: Sharon Ramey and Stephanie DeLuca are refining therapies for these disorders, adapting treatments originally developed for cerebral palsy Virginia Tech News.
• Prader-Willi Syndrome: Deborah Solid’s research has led to patents and the formation of the Good Foods Group LLC, focused on this syndrome affecting approximately 1 in 10,000 live births Virginia Tech News.
• Neuromuscular Diseases: Robert W. Grange is investigating the role of exercise in treating conditions like Duchenne muscular dystrophy, X-linked myotubular myopathy, and Facioscapulohumeral dystrophy Virginia Tech News.
• Acute Myeloid Leukemia: Christopher Hourigan is working to understand and treat this rare blood cancer Virginia Tech News.
• DiGeorge syndrome: Anthony-Samuel LaMantia investigates this disorder caused by a missing part of chromosome 22, affecting approximately 1 in 4,000 people Virginia Tech News.
• Glioblastoma: Samy Lamouille is testing new therapeutic approaches for this aggressive cancer, with potential therapies developed by Acomhal, a cancer research startup Virginia Tech News.
• Systemic Lupus Erythematosus: Xin M. Luo studies this chronic autoimmune disease, particularly its prevalence among women of childbearing age Virginia Tech News.
• Malignant Peripheral Nerve Sheath Tumors: Kathleen Mulvaney investigates these tumors, which can appear in infancy Virginia Tech News.
• Fabry disease: Sumita Mishra is investigating this disease, which affects the body’s ability to break down fatty substances Virginia Tech News.
• Glioblastoma Microenvironment: Jennifer Munson has developed a 3D tissue-engineered model to study glioblastoma, with potential treatments through Cairina Inc. Virginia Tech News.
• Rett Syndrome: Michelle Olsen studies this neurodevelopmental disorder primarily affecting girls Virginia Tech News.
• Brugada syndrome: Steven Poelzing studies faulty sodium channels and their influence on heart rhythms, including Brugada syndrome and other rare cardiac disorders Virginia Tech News.
• Neuropsychiatric Disease Risk: Ryan Purcell examines the molecular mechanisms of neuropsychiatric disease risk and rare genetic syndromes Virginia Tech News.
• Inborn Errors of Immunity: Nick Rider builds computational tools to understand the epidemiology and clinical outcomes of these rare genetic conditions Virginia Tech News.
• Dravet syndrome: Sharon Swanger studies the molecular mechanisms underlying seizure disorders, including Dravet syndrome Virginia Tech News.
• Childhood Seizure Disorders: Matt Weston examines developmental and epileptic encephalopathy disorders Virginia Tech News.
• Spinocerebellar Ataxia and Dystonia: Meike van der Heijden studies how cerebellar circuits mature, informing our understanding of these rare diseases Virginia Tech News.
• Pulmonary Arterial Hypertension and Pulmonary Fibrosis: Yassine Sassi is focused on identifying new therapies for these conditions Virginia Tech News.
• Diffuse Midline Glioma: Cheng-Chia “Fred” Wu explores the apply of focused ultrasound to treat this rare pediatric brain tumor Virginia Tech News.
• Glioblastoma Multiforme: Zhi Sheng is exploring new therapies for this aggressive brain cancer Virginia Tech News.

Looking Ahead

The illumination of the Wells Fargo Tower serves as a powerful reminder of the importance of rare disease research and the dedication of scientists at Virginia Tech and beyond. Continued investment in these areas promises to improve the lives of millions affected by these challenging conditions.