Glasses prescriptions are precisely matched to our eyes, and blood donations are exactly matched to a patient's blood type.
But there is a long way to go before every medical treatment and intervention is precisely tailored to each person. One challenge is matching each patient's needs with what medicine and science can currently offer, a problem that is particularly apparent when talking about those with rare diseases, which are often genetic in nature.
Though each rare disease by definition affects fewer than 1 in 200,000 people, as a group they afflict 10 percent of the U.S. population.
On Saturday, the Utah Rare Disease Day Symposium brought patients together with University of Utah researchers so they could relay their journeys and obstacles, and what is most important to them.
The doctors and scientists explained the cutting-edge research being done at the U. to understand their conditions and devise new treatments. They highlighted the power of the Utah Genome Project, an initiative that leverages a unique genetics resource, Utah Population Database, to identify the genetic causes of disease.
"No longer are our research partners merely research subjects. It's a partnership where investigators need to listen to them," said Willard Dere M.D., executive director of the Program in Personalized Health and co-director of the Utah Center for Clinical and Translational Science. "With partnership, teamwork, and multidisciplinary effort, all of us together can enhance this healthcare endeavor. As doctors and researchers, we can't forget that the patient is waiting."
The following University of Utah faculty spoke at the Utah Rare Disease Day Symposium:
Dean Li, M.D., Ph.D
CEO, ARUP Laboratories
Associate VP for Research and Chief Scientific Officer, University of Utah Health Sciences
Vice Dean for Research, University of Utah School of Medicine
Lynn Jorde, Ph.D.
Chair of UU Human Genetics Department
Joseph Cramer, M.D.
Clinical Associate Professor of Pediatrics
Tara Newcomb, M.S.
Clinical Research Coordinator, Pediatric Motor Disorders Program
Kevin Jones, M.D.
Associate Professor Orthopaedics and Oncological Sciences
James Bale, M..
Professor of Pediatrics and Neurology
John Carey, M.D., M.P.H.
Professor of Pediatrics
Willard Dere, M.D.
Executive Director, Program in Personalized Health,
Co-Director, Utah Center for Clinical and Translational Science