Fighting for Those with Rare Diseases
With 10,000 known rare diseases, the chances of being diagnosed with one in the United States are 1 in 10. That’s 30 million Americans affected. Fewer than 5% of rare diseases have an effective treatment leaving millions without options.At Notre Dame, studying rare diseases is a priority that places patients and families at the center of our work.The Boler-Parseghian Center for Rare Diseases was one of the first basic science rare disease research centers in the country, and Notre Dame Science recently launched the nation’s first minor in rare disease patient advocacy.https://go.nd.edu/FightingForRareDiseases
More from What Would You Fight For?
- 2:01Fighting for the Lives of ChildrenWhen your child is diagnosed with a rare, genetic disease, it feels like you’re rolling down a mountain, just waiting to hit rock bottom, says Doug Berns. When his daughter, Samantha, was diagnosed with Niemann-Pick Type C, an incurable, neurodegenerative disorder, he and his wife watched as Samantha’s energy depleted, her balance became shaky, and her laughter quieted.At Notre Dame, researchers in the Boler-Parseghian Center for Rare and Neglected Diseases seek to identify and advance treatments for a number of rare diseases, including Niemann-Pick Type C.For more information: http://ntrda.me/LivesofChildren
- 2:01Fighting to Walk AgainPerhaps no greater motivation exists in this world than hope. For the 450,000 Americans with spinal cord injuries, the hope that they can regain mobility, walk again, run again is often what pushes them through each therapy session. But those same patients often plateau in their recovery, and hope dwindles.Though he’s not a physician or physical therapist, Notre Dame engineering professor Jim Schmiedeler’s work may contribute to better success for these patients. In his locomotion and biomechanics lab, he uses tools from his biped robotics research to better understand the challenges spinal cord injuries present for those learning to walk again. By partnering with researchers at The Ohio State University, Schmiedeler can also test how lessons learned from experiments with the robots, which involve no risk to humans, can be translated into innovative therapeutic strategies that benefit patients. In doing so, he believes his work can help many of those individuals with a spinal cord injury to walk again.Read More: http://ntrda.me/WalkAgain