ROANOKE, Va. – People in Roanoke may notice the lights on the Wells Fargo Tower are blue, purple, green, and pink on the last day of February. It’s in honor of National Rare Disease Day.
Researchers at the Fralin Biomedical Research Institute at VTC are trying to combat rare diseases in the United States.
“So the research that goes on here at the Fralin Biomedical Research Institute covers a variety of disorders that generally fall under three major headings, those that affect the brain and nervous system, those that affect the heart or cardiovascular system, and cancer,” said Michael Friedlander the director of the Institute.
Rare diseases are those that affect 200,000 Americans or less. There are 7,000 different rare diseases, affecting about 30 million Americans. That’s a lot of people, but these diseases don’t always get enough attention.
“Yeah, the challenge with rare diseases is in the name rare. Of course. Because there are not so many people that have any one particular rare disease. There’s not as much of an economic drive for industry, pharmaceutical industry, etc. to really go after that as there are for the diseases that affect more people,” Friedlander said.
Friedlander said there are several projects at the Fralin Biomedical Institute, trying to find answers to diseases, particularly in children. Further, he said solving rare disease problems leads to progress in more common diseases.
And Friedlander said Roanoke-based researchers are making progress.
“We have a number of investigators that are studying rare conditions that cause abnormal patterns of electrical activity in the heart,” he said.
Friedlander serves on the governor’s task force on rare diseases and works with other leading researchers around the Commonwealth. He said time is always important when dealing with children.
“We tend to have a lot of people here focusing on rare disorders ... One of the sad things about the state of rare diseases when a parent has a child with symptoms they don’t understand and they go to their health care provider. Often the health care providers don’t recognize it, or perhaps Miss diagnose it. And again, it’s because it’s rare, they don’t see many cases. So the parents will invariably with that child have to go around and visit multiple healthcare providers till they get an accurate diagnosis. Unfortunately, that can mean precious time is lost, to be able to intervene and really change the course of that child’s life. So we really need to focus on rare diseases, invest more in research, and also in providing the kind of care and information that families with rare diseases in the family can benefit from,” Friedlander said.