Advancing Treatment & Research for Individuals With Rare Disease
The Center for Rare Disease at Dell Medical School at The University of Texas at Austin focuses on best-in-class, next-generation research, diagnostics and treatments for patients with rare disease.
The mission of the Center for Rare Disease is to serve as the research and innovation arm for rare diseases within the burgeoning University of Texas Medical Center. Its vision is to provide a hub for world-class care for Central Texas patients and families living with rare diseases, alleviating the common burden of complex medical odyssey journeys and decentralized specialty care.
Areas of Focus
The Center for Rare Disease provides a focal point to accelerate innovation, research and education of future leaders in the field of rare diseases to address the near 3 million Texans and 30 million Americans living with rare disease.
The center works to evolve person-centered, multidisciplinary care integrated with an academic health environment to support rare disease patients, with wraparound services that also enhance care for individuals with developmental disorders, neurological disorders and learning disabilities.
A single medical odyssey patient represents a rich set of opportunities for even the most accomplished physicians and researchers, from identifying new diagnoses to delivering effective medicines.
The Center for Rare Disease builds on the convergence of talent and knowledge at UT — from M.D. students, scientists and pharmacists to ethicists, public policy experts and creative business professionals — to identify new ways to teach, learn about and research rare genetic diseases.
Genetic conditions drive 1 in 7 pediatric hospital admissions and up to 30% of NICU admissions. The Center for Rare Disease works with its long-standing partner, Dell Children’s Medical Center of Central Texas, to address key areas such as pediatric neurology, metabolic disease and more.
The center also works with other key partners, such as the Firefly Fund, for critical work with children with undiagnosed and rare disease.
The Center for Rare Disease serves as a central hub within the University for innovation in unmet patients needs, and it includes research and technology partnerships with UT’s College of Pharmacy, College of Natural Sciences and Cockrell School of Engineering.
Additionally, the Center for Rare Disease works with the Cockrell School’s new Center for Generative AI to deploy artificial intelligence toward diagnoses and new designer therapies. Novel business opportunities will be developed with the McCombs School of Business, enabling the application of these creative solutions.
With the monumental announcement of the UT Medical Center, which includes a new UT specialty hospital and an MD Anderson Cancer Center, the Center for Rare Disease is designed to scale with the University’s health and life sciences footprint, leading diagnoses and care for those with rare disease in Austin and beyond.
The Need for Rare Disease Research
According to the National Institutes of Health, a singular class of rare disease impacts fewer than 200,000 individuals. With close to 7,000 different rare diseases, nearly 30 million Americans live with a rare disease. One in 7 pediatric admissions are driven by a genetic condition, with 10-30% of neonatal intensive care unit admissions likely due to an underlying genetic disease.
Rare disease patients can be a challenge to traditional health care systems due to the range of diagnostic and therapeutic needs. Often, rare disease patients languish for years without a diagnosis, without a treatment and without hope.
By treating the absolute rarest diseases, we learn more about the central processes that impact everyone.
Stephen C. Ekker, Professor of Pediatrics and Molecular Biosciences