Rare Disease Day: Virginia Tech researchers tackle uncommon conditions

When the Wells Fargo Tower in Roanoke glows on Saturday, Feb. 28, 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 each of these conditions is considered rare, there are as many as 10,000 disorders in this category. Collectively, they affect 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 that include many across the Commonwealth, and coordinating our work with scientists across the globe,” said Friedlander, who 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.

“Other than the families directly affected, many other people may not be as familiar with these diseases, yet 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.”

That commitment also shapes how the institute engages with the broader community. On March 9, 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 touches on the genetics of selected disorders, reflecting the reality that many rare diseases are driven by genetic changes that researchers are working to address directly. The program will also provide updates and insights into the future of cell and gene therapy. The faculty leading those conversations are the same scientists advancing rare disease research across Virginia Tech.  

Here are some of the researchers working on rare and uncommon diseases at Virginia Tech:

• Irving Coy Allen, assistant department head for research support in the Department of Biomedical Sciences and Pathobiology and professor of inflammatory disease at the Virginia-Maryland College of Veterinary Medicine, conducts inflammasome research spanning multiple rare disease areas, including histiocytic sarcoma, an extremely rare cancer, and brucellosis.
• Clayton C. Caswell, associate professor of bacteriology. Caswell studies brucellosis, with fewer than 200 U.S. cases per year — a classic rare zoonotic disease. No safe human vaccine exists, and antibiotic treatment is prone to relapse.
• John Chappell, 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. 
• Fralin Biomedical Research Institute Associate Professor Stephanie DeLuca and Professor Sharon Ramey have developed and refined therapies to treat genetic neuromotor movement disorders. The team has adapted the therapy developed to help children and young adults with cerebral palsy for patients with rare diseases that affect neuromotor skills, such as some CASK-related disorders.
• Nisha Duggal, associate professor of virology at the Virginia-Maryland College of Veterinary Medicine, studies emerging arboviruses that cause rare diseases, including Usutu virus, congenital Zika syndrome and St. Louis encephalitis.
• Erin Gloag, assistant professor of microbiology in the department of biomedical sciences and pathobiology, studies how Pseudomonas aeruginosa biofilms persist in the lungs of patients with cystic fibrosis, which affects about 35,000 Americans. 
• 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, symptoms of which 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 formation of the Good Foods Group LLC.
• Robert W. Grange, 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. That 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, professor of 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.
• Kylene Kehn-Hall, professor of virology and director of the center for emerging, zoonotic, and arthropod-borne pathogens, studies three of the rarest and deadliest viral diseases in the U.S.: Eastern equine encephalitis,  Venezuelan equine encephalitis and Rift Valley fever, a World Health Organization (WHO) high-priority pathogen with no FDA-approved treatment.
• Anthony-Samuel LaMantia, 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.
• Assistant Professor Samy Lamouille 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, 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, which is estimated to affect between 161,000 and 322,000 people.
• X.J. Meng, University Distinguished Professor of molecular virology at the Virginia-Maryland College of Veterinary Medicine and member of the National Academy of Sciences, discovered swine hepatitis E virus, establishing hepatitis E as a zoonotic disease. His current focus is on hepatitis E-associated neurological disorders, including Guillain-Barré syndrome.
• Sumita Mishra, 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., affects the body's ability to break down specific fatty substances.
• Assistant Professor Kathleen Mulvaney of the Fralin Biomedical Research Institute investigates malignant peripheral nerve sheath tumors, which affect fewer than 50,000 patents in the U.S. Symptoms can appear in infancy.
• Professor 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 a company, Cairina Inc., to provide personalized treatment and improve outcomes for patients with aggressive gliomas.
• Kirsten Nielsen, professor of microbiology and immunology studies cryptococcosis, caused by Cryptococcus neoformans — WHO's No. 1 critical fungal pathogen, killing over 500,000 people annually worldwide.
• Michelle Olsen, 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.
• Alicia Pickrell, associate professor of neuroscience in the College of Science, studies Leigh syndrome. Affecting around 1 in 40,000 people, this rare, inherited neurodegenerative disorder typically appears in infancy and can progress rapidly, leading to limited treatment options and poor survival rates.
• Steven Poelzing, 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.
• Assistant Professor Ryan Purcell of 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, there are fewer than 250,000 patients.
• John H. Rossmeisl Jr., associate department head, Small Animal Clinical Sciences; Dorsey Taylor Mahin Professor of Neurology and Neurosurgery, leads the Veterinary and Comparative Neuro-oncology Laboratory, which treats dogs with spontaneous brain tumors and informs treatment of called glioblastoma multiforme, a rare cancer causing about 10,000 deaths annually.
• Yassine Sassi, 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.
• Assistant Professor Zhi Sheng of the Fralin Biomedical Research Institute is exploring new therapies for glioblastoma multiforme. 
• Sharon Swanger, 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.
• Meike van der Heijden, 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.
• James Weger-Lucarelli, associate professor at the Virginia-Maryland College of Veterinary Medicine, studies Mayaro virus, an emerging alphavirus that has caused zero U.S. cases but is considered a serious candidate for the next major arboviral outbreak. His lab develops vaccines and molecular tools for Mayaro, Zika, Usutu and chikungunya viruses.
• Matt Weston, 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.
• 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.