Rare Disease Day, observed on Feb. 28, brings attention to uncommon diseases affecting populations of 200,000 or fewer. In Roanoke, the Wells Fargo Tower will be illuminated in pink, green, purple, and blue—the colors of Rare Disease Day—thanks to a collaboration between The Fralin Biomedical Research Institute at VTC and Wells Fargo Tower.
Despite their rarity, these diseases impact about 30 million people in the United States, according to the National Institutes of Health. In Virginia, many families are affected, including those 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, serves on 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 and their families and caregivers.
While caregivers and families need immediate support, Friedlander emphasized that Virginia Tech’s health science researchers aim to better understand the causes and mechanisms of many rare diseases to improve diagnoses and develop new treatments. “We are working across disciplines, with partner institutions, and coordinating our work with scientists across the globe,” he said. “So it is important work because it helps people have longer and fuller lives, healthier lives. And the people here are dedicated to doing the research that will give us answers to many of these really vexing questions, and particularly related to the rare diseases that so often are very complicated to understand at the level of genetics and or environmental factors as well.”
Fewer than 500 of over 7,000 rare diseases have Food and Drug Administration-approved treatments. The small number of people affected by any one diagnosis means there is little economic incentive to invest the millions of dollars needed to develop effective therapies.
“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.” Friedlander said.
Despite the significant impact research can have on a patient’s life, Friedlander noted that funding for rare diseases is often limited due to the perception that it won’t benefit the largest number of people.
“So it really is a virtuous cycle of study of rare diseases. It often applies for understanding of the more common diseases as well. So, I hope everybody takes a moment to think about rare diseases. And that could be any one of us, our friends or family members. And we’re all really obligated to do what we can to help people with these disorders. I do want to add also that so often with the rare disease, it’s hard for families to get an accurate diagnosis because some of these things are indeed so rare. Those that train in health care or physicians in training, etc. don’t often always get exposed to many of these rare diseases. So it takes these families a long time, in many cases until they get an accurate diagnosis. And that time that’s lost on the front end could be very important, because not getting in as soon as possible to try to offer a treatment. So one of the things we’re trying to also do with recognition of Rare Disease Day is raise the consciousness of the health care providers to be aware of these and to help inform families earlier when these diagnoses are made.”
