The Roanoke skyline will be illuminated in pink, green, purple, and blue on Saturday, February 28th, as the Wells Fargo Tower participates in Rare Disease Day, a global event dedicated to raising awareness for the approximately 30 million Americans affected by rare diseases.
The lighting of the 320-foot tower, the tallest building in Southwest Virginia, serves as a visible symbol of the research underway at Virginia Tech aimed at improving the lives of those living with uncommon conditions. A disease is classified as rare when it affects fewer than 200,000 people in the United States, according to the National Institutes of Health.
“We are working across disciplines, with partner institutions, and coordinating our work with scientists across the globe,” said Michael Friedlander, Virginia Tech’s vice president for health sciences and technology and executive director of the Fralin Biomedical Research Institute at VTC, who also serves on the Virginia Department of Health’s Rare Disease Council. “While few may have heard of these diseases, they touch us all. Research into these less common illnesses expands our understanding of human health, often leading to discoveries and therapies for more common diseases as well.”
Researchers at the Fralin Biomedical Research Institute are currently investigating a range of rare diseases. John Chappell, an associate professor, is studying Von Hippel-Lindau disease, an inherited disorder causing abnormal tumor and cyst growth. Sharon Ramey and Stephanie DeLuca have adapted therapies originally developed for cerebral palsy to treat genetic neuromotor movement disorders, including some CASK-related disorders. Deborah Good’s research on Prader-Willi Syndrome, a condition affecting approximately 1 in 10,000 live births, has resulted in three patents and the formation of the Good Foods Group LLC.
Robert W. Grange is focusing on the role of exercise in treating neuromuscular diseases, including Duchenne muscular dystrophy, X-linked myotubular myopathy, and Facioscapulohumeral dystrophy. Christopher Hourigan investigates acute myeloid leukemia, a rare blood cancer. Anthony-Samuel LaMantia is researching DiGeorge syndrome, which occurs when a portion of chromosome 22 is missing. Sami Lamouille is testing a novel therapeutic approach to eradicate glioblastoma cancer stem cells through his startup, Acomhal.
Other research efforts include Xin M. Luo’s studies on systemic lupus erythematosus, Kathleen Mulvaney’s investigation of malignant peripheral nerve sheath tumors, and Sumita Mishra’s work on Fabry disease. Jennifer Munson has developed a 3D tissue-engineered model of the glioblastoma microenvironment, leading to the creation of Carina Inc., a company focused on personalized treatment for aggressive gliomas. Michelle Olsen studies Rett Syndrome, a neurodevelopmental disorder primarily affecting girls.
Steven Poelzing’s research focuses on faulty sodium channels and their influence on cardiac function, including Brugada syndrome and other rare heart conditions. Ryan Purcell examines the molecular mechanisms of neuropsychiatric disease risk, while Nick Rider builds computational tools to quantify aspects of inborn errors of immunity. Sharon Pregnant studies Driven syndrome, a catastrophic seizure disorder, and Matt Weston examines childhood seizure disorders. Meike van der Heijden studies how cerebellar circuits mature, informing understanding of spinocerebellar ataxia and dystonia.
Yassine Sassi is focused on identifying new therapies for cardiovascular and pulmonary diseases, including pulmonary arterial hypertension and pulmonary fibrosis. Cheng-Chia “Fred” Wu is exploring the use of focused ultrasound to treat pediatric patients with rare brain tumors, specifically diffuse midline glioma. Zhi Sheng is exploring new therapies for glioblastoma multiforme.
The Fralin Biomedical Research Institute will also host its annual Brain School on March 9th as part of Brain Awareness Week, focusing on genes and cell and gene therapy for brain disorders.
