Rare Disease Day Brings Worldwide Attention to More Than 7,000 Diseases

On Feb. 29, the Wells Fargo Tower and Berglund Center in downtown Roanoke will be illuminated with a show of pink, green, purple, and blue. The Fralin Biomedical Research Institute at VTC as well as Wells Fargo’s Martin, Hopkins & Lemon and the City of Roanoke are joining together in an effort to shine a light on important but uncommon diseases in a global observance of Rare Disease Day, which takes place annually on the last day of February.

Advances in testing and increasingly accurate molecular diagnostics are expanding researchers’ understanding of conditions with patient populations of 200,000 or less. The National Institutes of Health reports that rare diseases affect about 30 million people in the United States — almost 1 in 10 Americans.

Many of those are children, who often will struggle with the challenges of these disorders throughout their lives. These disorders touch thousands of families in Virginia, including in the Roanoke and New River valleys.

Michael Friedlander, Virginia Tech’s vice president for health sciences and technology and executive director of the Fralin Biomedical Research Institute, has learned of their struggles first-hand as a member of the Virginia Department of Health’s Rare Disease Council. The council advises the General Assembly and the Office of the Governor on the needs of individuals with rare diseases.

Friedlander also has served as the past chair of the national centers for intellectual disabilities and developmental disorders, on the scientific advisory board of Parents and Infants of Children with Kernicterus, as well as carried out his own research on early development of the brain and the effects of experience and injury on brain plasticity.

While caregivers and families need immediate support, Friedlander said Virginia Tech’s health science researchers also want to provide long-term hope by working to better understand the causes and mechanisms of many rare disease, facilitating innovations in diagnostics and treatments. “We are taking a global approach, working across disciplines and between partner institutions, coordinating our work with efforts of scientists worldwide,” he said.

For many rare genetic conditions, the cause can be traced to changes in a single gene. Rare diseases often share molecular signaling pathways of more common conditions, =so by studying them researchers can develop a better understanding the mechanisms of a wide range of diseases. Some of the scientists working on rare and uncommon diseases at Virginia Tech include the following:

  • John Chappell 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. Chappell is an associate professor at the  Fralin Biomedical Research Institute.
  • In the Neuromotor Research Clinic, Fralin Biomedical Research Institute Professor Sharon Ramey and Associate Professor Stephanie DeLuca have developed and refined therapies to treat 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. One report identified about 130 of such cases.
  • 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 fewer than 50,000 people in the U.S. 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 the its role in such rare illnesses as Duchenne muscular dystrophy that affects fewer than 50,000 in the U.S., X-linked myotubular myopathy that affects fewer than 5,000, and Facioscapulohumeral dystrophy that affects fewer than 50,000.
  • 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.
  • Xin M. Luo, professor of immunology in the Virginia-Maryland College of 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, which affects the skin, joints, and internal organs. Scientists like Luo are working to better understand the disease and its prevalence, which some estimates suggest affects between 161,000 and 322,000 people.
  • Sumita Mishra, assistant professor at the Fralin Biomedical Research Institute, is investigating a cardiac disorder as part of her research into metabolic health. 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. Scientists on  Virginia Tech’s Roanoke and Blacksburg campus are collaborating on the research, which is in its early stages.
  • 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.
  • Steven Poelzing, professor at the Fralin Biomedical Research Institute and co-director of the Virginia Tech Translational Biology, Medicine, and Health Graduate Program, 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.
  • Nick Rider is a data scientist and clinical immunologist with Carilion Clinic and a professor in the Virginia Tech Carilion School of Medicine. Rider 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.
  • Sharon Swanger, 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.
  • Associate Professor Matt Weston examines childhood seizure disorders, including a number of developmental and epileptic encephalopathy disorders affecting small patient populations.
  • Meike van der Heijden, who joined the Fralin Biomedical Research Institute as an assistant professor in January, 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.

Cancer is another area of focus at Virginia Tech. Nearly 1 in 8 adult cancer patients in the U.S. have a rare form of cancer. They can be challenging to identify, often resulting in delayed diagnosis after symptom onset. Even after diagnosis, treatment options and clinical trials are more limited.

Glioblastoma affects fewer than 50,000 patients in the United States. Several teams of Virginia Tech researchers are targeting aggressive brain cancers, as well as other types of cancer.

  • Samy Lamouille, an assistant professor at the Fralin Biomedical Research Institute, is testing a novel therapeutic approach to eradicate glioblastoma cancer stem cells. Acomal, 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.
  • On the Children’s National Research & Innovation Campus in Washington, D.C., Fralin Biomedical Research Institute Assistant Professor Kathleen Mulvaney investigates malignant peripheral nerve sheath tumors, which affect fewer than 50,000 patents in the U.S. Symptoms can appear in infancy.
  • Associate 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.
  • Zhi Sheng an assistant professor at the Fralin Biomedical Research Institute, is exploring new therapies for glioblastoma multiforme.
  • Fewer than 1 percent of children diagnosed with diffuse midline pontine glioma, an aggressive and rare form of pediatric brain cancer, are still alive within five years of diagnosis. Fralin Biomedical Research Institute Assistant Professor Jia-Ray Yu, who is based at the Children’s National Research & Innovation Campus, is investigating the biology of two enzymes that show promise as targets for combination therapies to treat pediatric brain cancer. His lab also investigates how these enzymes are involved in Sotos and Rauch-Steindl syndromes, two rare pediatric developmental disorders with no cures.

Researchers continue to make progress, but fewer than 500 rare diseases have Food and Drug Administration-approved treatments. Because the number of people affected by any one diagnosis is small, there is little economic incentive to invest the millions of dollars needed for research and clinical trials to develop effective therapies. The National Institutes of Health also reports that those with rare conditions experience medical costs three to five times higher than for more common illnesses.

“While each of these diseases are rare, they touch us all in many ways,” Friedlander said. Better understanding of the causes of rare disease — including genetic, epigenetic and environmental factors — could benefit rare disease patients and their caregivers. “And by better understanding these less common illness, we can learn more about human health across a broad spectrum of conditions,” he said, “and expand on discoveries and therapies for more common disorders.”

By Leigh Anne Kelley

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