Roanoke’s Wells Fargo Tower Shines a Light on the Future of Rare Disease Research
This Saturday, February 28th, the Roanoke skyline will be transformed as the Wells Fargo Tower glows in pink, green, purple, and blue – the official colors of Rare Disease Day. This isn’t just a visual display. it’s a powerful symbol of the growing momentum behind research at Virginia Tech and beyond, aimed at improving the lives of those affected by rare diseases.
The Scope of the Challenge: 1 in 10 Americans
Even as individually uncommon – defined as affecting fewer than 200,000 people – rare diseases collectively impact a significant portion of the population. The National Institutes of Health estimates that nearly 1 in 10 Americans, roughly 30 million individuals, live with a rare disease. These conditions place a substantial burden on patients, families, and the healthcare system.
Virginia Tech Leads the Charge in Rare Disease Innovation
Researchers at Virginia Tech’s Fralin Biomedical Research Institute at VTC are at the forefront of tackling these complex challenges. Their function spans multiple disciplines, collaborating with institutions and scientists globally. Michael Friedlander, Virginia Tech’s vice president for health sciences and technology, emphasizes that research into these less common illnesses often yields breakthroughs applicable to more prevalent conditions.
Spotlight on Research: A Diverse Portfolio
The institute’s research portfolio is remarkably diverse, addressing a wide range of rare diseases. John Chappell studies Von Hippel-Lindau disease, an inherited disorder causing tumor growth. Sharon Ramey and Stephanie DeLuca are adapting therapies for cerebral palsy to treat genetic neuromotor movement disorders, including CASK-related disorders. Deborah Quality’s work on Prader-Willi Syndrome has already resulted in patents and the formation of Good Foods Group LLC.
Further research focuses on conditions like Duchenne muscular dystrophy (Robert W. Grange), acute myeloid leukemia (Christopher Hourigan), and DiGeorge syndrome (Anthony-Samuel LaMantia). Innovative approaches are as well being explored, such as Samy Lamouille’s work on therapies for aggressive cancers like glioblastoma, and Xin M. Luo’s studies on systemic lupus erythematosus.
Beyond Treatment: Understanding and Prevention
The research isn’t limited to treatment. Scientists like Kathleen Mulvaney are investigating malignant peripheral nerve sheath tumors, while Sumita Mishra focuses on Fabry disease. Jennifer Munson is pioneering 3D tissue-engineered models to understand glioblastoma recurrence. Michelle Olsen studies Rett Syndrome, and Steven Poelzing investigates Brugada syndrome and other rare cardiac conditions.
Researchers are also delving into the genetic underpinnings of these diseases. Ryan Purcell examines the molecular mechanisms of neuropsychiatric disease risk, and Nick Rider develops computational tools to understand inborn errors of immunity. Yassine Sassi studies pulmonary arterial hypertension and pulmonary fibrosis, while Cheng-Chia “Fred” Wu explores focused ultrasound for pediatric brain tumors. Zhi Sheng is also investigating glioblastoma multiforme.
The Future is Gene Therapy and Personalized Medicine
The Fralin Biomedical Research Institute’s annual Brain School, held on March 9th, highlights the growing importance of genes and cell/gene therapy for brain disorders. This reflects a broader trend towards personalized medicine, tailoring treatments to an individual’s genetic makeup. Meike van der Heijden’s work on cerebellar circuits and spinocerebellar ataxia exemplifies this approach.
Did you know? Rare Disease Day aims to raise awareness and generate change for the 300 million people worldwide living with a rare disease.
Expanding the Reach: Community Engagement and Collaboration
Virginia Tech’s commitment extends beyond the lab. The institute actively engages with the community, fostering collaboration and knowledge sharing. This holistic approach is crucial for accelerating progress in rare disease research.
Frequently Asked Questions
What is a rare disease? A rare disease is generally defined as a condition that affects fewer than 200,000 people in the United States.
How many people are affected by rare diseases? Approximately 30 million Americans – nearly 1 in 10 – live with a rare disease.
What is Virginia Tech doing to address rare diseases? Researchers at the Fralin Biomedical Research Institute are conducting cutting-edge research across a wide range of rare conditions, from genetic disorders to cancers.
Pro Tip: Stay informed about rare disease research by visiting the National Institutes of Health’s Office of Rare Diseases Research website: https://www.rarediseases.info.nih.gov/
Reader Question: How can I support rare disease research?
You can support rare disease research by donating to organizations dedicated to finding cures, participating in clinical trials, and raising awareness about these often-overlooked conditions.
The illumination of the Wells Fargo Tower serves as a beacon of hope, reminding us that even the rarest conditions deserve attention, research, and a cure. Explore the work of the Fralin Biomedical Research Institute at VTC to learn more about their groundbreaking efforts.
