Virginia Tech Research Shines Light on Rare Diseases – Rare Disease Day 2024
When the Wells Fargo Tower in Roanoke glows on , in pink, green, purple, and blue light – the official colors of Rare Disease Day – it will stand as a visible reminder of the research advancing across Virginia Tech to improve the outlook for people living with rare diseases.
A condition is considered rare when it affects patient populations of 200,000 or fewer. Collectively, however, the National Institutes of Health reports that rare diseases affect about 30 million people in the United States – nearly 1 in 10 Americans – with major impacts on their families and caregivers.
Although these disorders are described as rare, they touch thousands of families in Virginia, including 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, which advises the General Assembly and the Office of the Governor on the needs of individuals with rare diseases and their families and caregivers.
“While few may have heard of these diseases, they touch us all,” Friedlander said. “Research into these less common illnesses expands our understanding of human health, often leading to discoveries and therapies for more common diseases as well.”
This commitment extends beyond the laboratory and into the community. On , the Fralin Biomedical Research Institute at VTC will host its annual Brain School as part of the globally recognized Brain Awareness Week. This year’s program focuses on genes and the future of cell and gene therapy for brain disorders, reflecting the reality that many rare diseases are driven by genetic changes researchers are working to address directly.
The faculty leading these conversations are the same scientists advancing rare disease research across Virginia Tech. Several researchers are currently focused on a range of rare and uncommon diseases.
John Chappell, an associate professor at the Fralin Biomedical Research Institute, studies Von Hippel-Lindau disease, an inherited disorder characterized by the abnormal growth of both benign and cancerous tumors and cysts that affects fewer than 50,000 people in the U.S.
Sharon Ramey, a professor at the Fralin Biomedical Research Institute, and Stephanie DeLuca, an associate professor there, have developed and refined therapies to treat genetic neuromotor movement disorders. Their team has adapted therapies originally developed for children and young adults with cerebral palsy for patients with rare diseases that affect neuromotor skills, such as some CASK-related disorders.
Deborah Good and her lab in the College of Agriculture and Life Sciences’ Department of Human Nutrition, Foods, and Exercise conduct research into Prader-Willi Syndrome, which affects 1 in 10,000 live births. Her work on the syndrome, whose symptoms may start to appear in pregnancy and in newborns and can affect many parts of the body, has led to two U.S. And one international patents and the formation of the Good Foods Group LLC.
Robert W. Grange, a professor of human nutrition, foods, and exercise and director of the Virginia Tech Metabolism Core, is focused on the role of exercise in treating neuromuscular disease. This includes its role in such rare illnesses as Duchenne muscular dystrophy, which affects fewer than 50,000 in the U.S.. X-linked myotubular myopathy, which affects fewer than 5,000; and Facioscapulohumeral dystrophy, which affects fewer than 50,000.
Christopher Hourigan, a professor at the Fralin Biomedical Research Institute and director of its Cancer Research Center in Washington, D.C., investigates and treats acute myeloid leukemia, a rare blood cancer. Although acute myeloid leukemia is one of the more common adult leukemias, it still meets the definition of a rare disease because it affects fewer than 200,000 people in the United States and fewer than 5 in 10,000 people in Europe.
Anthony-Samuel LaMantia, a professor and director of the Fralin Biomedical Research Institute’s Center for Neurobiology Research, investigates DiGeorge syndrome, a disorder that occurs when a small part of chromosome 22 is missing. It affects 1 in 4,000 people.
Sami Lamouille, an assistant professor at the Fralin Biomedical Research Institute, is testing a novel therapeutic approach to eradicate glioblastoma cancer stem cells. Acomhal, a cancer research startup company he co-founded with Professor Robert Gourdie, shows potential in providing therapy for aggressive cancers such as glioblastoma and triple negative breast cancer.
Xin M. Luo, a professor of immunology in the Virginia-Maryland College of Veterinary Medicine’s Department of Biomedical Sciences and Pathobiology, studies systemic lupus erythematosus. Women of childbearing age are at greatest risk for the chronic autoimmune disease. Luo is working to better understand the disease and its prevalence, estimated to affect between 161,000 and 322,000 people.
Kathleen Mulvaney, an assistant professor at the Fralin Biomedical Research Institute, investigates malignant peripheral nerve sheath tumors, which affect fewer than 50,000 patients in the U.S. Symptoms can appear in infancy.
Sumita Mishra, an assistant professor at the Fralin Biomedical Research Institute, is investigating Fabry disease, a diagnosis shared by fewer than 5,000 people in the U.S., which affects the body’s ability to break down specific fatty substances.
Jennifer Munson has developed a novel 3D tissue-engineered model of the glioblastoma microenvironment to help learn why the tumors return and how best to eradicate them. She and collaborators founded Carina Inc. To provide personalized treatment and improve outcomes for patients with aggressive gliomas.
Michelle Olsen, a professor of neuroscience in the College of Science, studies Rett Syndrome. The neurodevelopmental disorder primarily affects girls, with fewer than 50,000 diagnosed cases in the U.S. A characteristic symptom is repetitive hand movements.
Steven Poelzing, a professor at the Fralin Biomedical Research Institute, studies how faulty sodium channels influence cardiac function and heart rhythms. Fewer than 200,000 Americans are living with Brugada syndrome, which can cause sudden cardiac death. The lab also researches rare disorders such as oculodentodigital dysplasia dominant, Long QT syndrome 3, arrhythmogenic cardiomyopathy, and Lenegre disease.
Ryan Purcell, an assistant professor at the Fralin Biomedical Research Institute, examines the molecular mechanisms of neuropsychiatric disease risk, which will provide insights for novel strategies to address a number of rare genetic syndromes.
Nick Rider, a data scientist and clinical immunologist with Carilion Clinic and professor in the Virginia Tech Carilion School of Medicine, focuses on building computational tools to quantify various aspects of the epidemiology, clinical journey, biology and clinical outcomes for patients with inborn errors of immunity, which are caused by damaging variants in single genes. These conditions are individually rare; in aggregate, You’ll see fewer than 250,000 patients.
Sharon Pregnant, a Fralin Biomedical Research Institute assistant professor, studies the molecular mechanisms that underlie seizure disorders. That includes research into Dravet syndrome, a rare and catastrophic seizure disorder that affects fewer than 50,000 people in the U.S. Symptoms can appear in infancy.
Matt Weston, an associate professor at the Fralin Biomedical Research Institute, examines childhood seizure disorders, including a number of developmental and epileptic encephalopathy disorders affecting small patient populations.
Meike van der Heijden, an assistant professor at the Fralin Biomedical Research Institute, studies how cerebellar circuits mature during brain development. Her work on the cerebellum helps inform a better understanding of rare diseases such as spinocerebellar ataxia and dystonia.
Yassine Sassi, a Fralin Biomedical Research Institute assistant professor, is focused on identifying new therapies for cardiovascular and pulmonary diseases. His team studies pulmonary arterial hypertension, which affects fewer than 50,000 in the U.S., and pulmonary fibrosis, which affects about 200,000 people in the U.S.
Cheng-Chia “Fred” Wu is exploring the use of focused ultrasound and convection-enhanced delivery to treat pediatric patients with rare pediatric brain tumors. Wu, a Fralin Biomedical Research Institute assistant professor, investigates diffuse midline glioma, a rare form of brain cancer.
Zhi Sheng, an assistant professor at the Fralin Biomedical Research Institute, is exploring new therapies for glioblastoma multiforme.