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Lauren Rosenberg, daughter, Sophie, and family dog pose in front of pond

At the Forefront: Marshaling Resources for Rare Diseases

CU Anschutz Medical Campus to host Rare Disease Day Colorado on Feb. 28

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Written by Staff on February 21, 2023
What You Need To Know

Chancellor Don Elliman's newsletter, At the Forefront, focuses on the toll of rare diseases on families and the efforts on campus to reduce the burden.

All Sophie Rosenberg and her parents should be worrying about is kindergarten and playdates. Instead, hospital visits and leg braces overshadow the 5-year-old’s life, and her parents dedicate their time to the search for a miracle.

Sophie has multicentric carpotarsal osteolysis syndrome, or MCTO, a condition so rare, it’s not well understood. Fewer than 60 cases of MCTO have been reported in the medical literature, leaving her doctors with more questions than answers.

But her multidisciplinary care team is working hard to change the landscape.

For the Rosenbergs and families like them, the University of Colorado Anschutz Medical Campus offers hope. As one of only 31 National Organization for Rare Disorders (NORD) Rare Disease Centers of Excellence in the country, the campus is part of a network equipped to rapidly advance progress.

Leading efforts as a NORD Center of Excellence, CU School of Medicine faculty Shawn McCandless, MD, and Matthew Taylor, MD, PhD, along with Chief Research Informatics Officer Melissa Haendel, PhD, are harnessing expertise and resources to serve the 30 million Americans with rare diseases, two-thirds of those children.

Read more about rare disease expertise and care at CU Anschutz in At the Forefront, a monthly newsletter from Chancellor Don Elliman highlighting breakthrough work underway on campus.

Register for Rare Disease Day Colorado events coming up on Feb. 28 to learn more about rare disease efforts and hear from Sophie’s mother, Lauren, about the Rosenberg family’s journey with MCTO.

Topics: Research, Community,