Rare diseases Affect 1 in 10 Americans

On Feb. 28, the top of Wells Fargo Tower in downtown Roanoke will be illuminated with a show of pink, green, purple, and blue. Its part of an effort to shine a light on important but uncommon diseases in recognition ofRare Disease Day, which takes place annually on the last day of February.

We all have diagnoses, and we all have disabilities and abilities, saidStephanie DeLuca, an associate professor at the Fralin Biomedical Research Institute at VTC and co-director of itsNeuromotor Research Clinic. DeLuca and co-directorSharon Rameypioneered the use of a high-intensity therapy that has allowed children with cerebral palsy and other movement disorders to make rapid gains.

They have alsoapplied some of their researchto children diagnosed with rare diseases, including CASK disorders. According to the National Institutes of Health, there were just 130 documented cases of the disorder as of 2020. Its about being willing to try, and not just assuming that because you have a rare diagnosis that there are not positive changes that can be made, DeLuca said. Sometimes its that first step that can lead to a lot of learning that can impact many people. Its one of the things rare diseases can teach us.

More than 7,000 rare diseases affect 30 million people in the United States, according to the National Institutes of Health. Nearly one in 10 Americans is facing a rare disease.

For most rare genetic conditions, the problem is related to changes in a single gene.Rare diseases share some of the same genetic pathways as more common illnesses, however, so by studying them researchers can develop a better understanding the mechanisms of disease that apply to more common health conditions.

Thebenefits ofrare disease researchstretchfar beyond a few affectedindividuals and theirfamilies, said Michael Friedlander, Virginia Techs vice president for health sciences and technology and executive director of the Fralin Biomedical Research Institute.Our institutetakes a broad approach, coordinating effortswith scientists worldwide.

Anthony-Samuel LaMantia, a world-renowned geneticist, professor, and director of the research institutesCenter for Neurobiology Research, investigates DiGeorge syndrome, a disorder that occurs when a small part of chromosome 22 is missing. It affects one in 4,000 people.

Researchers in the Fralin Biomedical Research InstitutesCenter for Vascular and Heart Researchstudy rare diseases that affect electrical signaling in the heart. Fewer than 200,000 Americans are living with Brugada syndrome, a rare disease that can cause sudden cardiac death. Patients with Brugada syndrome usually have mutations in the SCN5A gene, which encodes proteins that regulate sodium channel function in the heart.

Researchers led bySteven Poelzing, a professor at the Fralin Biomedical Research Institute and co-director of the Virginia Tech Translational Biology, Medicine, and Health Graduate Program,study Brugada syndrome to understandhow faulty sodium channels influence cardiac function and heart rhythms.

Nearly one in eight 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.

Virginia Tech researchers are targeting glioblastoma, an aggressive form brain cancer with an average survival time of 15 months after diagnosis.

Zhi Shengand his lab are exploring new therapies for glioblastoma multiforme. Sheng is an assistant professor at the Fralin Biomedical Research Institute and aVirginia Tech Cancer Research Alliancemember.Samy Lamouille, an assistant professor at the Fralin Biomedical Research Institute, was given aSeale Innovation Fundgrant to test a novel therapeutic approach to eradicate glioblastoma cancer stem cells. And Associate Professor Jennifer Munson has developed a novel3D tissue-engineered modelof the glioblastoma microenvironment to help learn why the tumors return and how to best eradicate them.

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 Biomedial Research Institute Assistant ProfessorJia-Ray Yu, who last yearlaunched a new laboratoryon the Childrens National Research and Innovation Campus in Washington, D.C., is investigating the biology of two enzymes that show promise as targets for combination therapies to treat pediatric brain cancer.

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 required 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.

A rare disease, as defined in the Orphan Drug Act, affects fewer than 200,000 people, Friedlander said. But the fundamental scientific discoveries that emerge when we work to understand their cellular and molecular processes provides immense value.

Friedlander also serves on theVirginia Department of Healths Rare Disease Council, which advises the General Assembly and the Office of the Governor on the needs of individuals with rare diseases. He works with people with rare disease, care providers, researchers, family members, and program leaders to improve prevention, treatment and support services.

Its vital that we continue to investigate the mechanisms and treatments of rare diseases to advance our understanding of human health, and help patients with rare diseases while informing new therapies for more common disorders, Friedlander said.

Leigh Anne Kelley

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