Researchers and staff at the University of Minnesota work on a number of fronts to advance research and raise awareness about some of the more than 6,000 identified rare diseases that affect over 300 million people worldwide.1
CTSI staff offer a broad range of expertise to U of M researchers who work on these frequently life-threatening diseases. This includes resources to help researchers identify potential study participants and a program that is dedicated to translating research discoveries into real-world solutions.
To further ongoing awareness of rare diseases, a number of events are slated to take place in late February and early March this year. Please see the list of events below.
Raising research awareness for potential research participants
CTSI’s Recruitment Center helps U of M study teams successfully recruit and retain participants, and the StudyFinder website is a key tool in those efforts.
StudyFinder features a category dedicated to rare disease research, offering those interested an opportunity to participate in 46 different studies (as of Feb. 20). These studies aim to help improve access to diagnosis, treatment, and care for people living with rare diseases.
“When the study has strict eligibility criteria and needs age- and gender-matched healthy participants, having a broader reach by using StudyFinder is helpful as we have a bigger pool to choose from,” said Reena Kartha, PhD, assistant professor in the College of Pharmacy and principal investigator for a study on Type 1 Gaucher Disease. “Having such a tool that assists with recruitment is also attractive to funding agents, especially when we are not affiliated with a clinic or hospital and are conducting research on human subjects.”
Since its launch by CTSI in 2013, StudyFinder has expanded nationally to Clinical and Translational Science Award (CTSA) program hubs around the country.
“StudyFinder is an important tool in helping patients and families from across the country, as well as patient advocacy organizations, determine if UMN faculty are conducting clinical research on a particular rare disease,” said James Cloyd, PharmD, of the Department of Experimental and Clinical Pharmacology.
Providing critical funding
The CTSI Office of Discovery and Translation (ODAT) provides funding to help translate researcher discoveries into real-world solutions and treatments. ODAT identifies and supports innovations that can improve human health through products, services, and novel approaches.
In addition to funding, ODAT provides industry knowledge and expert guidance to develop solutions such as devices, diagnostics, therapeutics, software and service models.
Research by Drs. Branden Moriarity and Beau Webber in the Medical School’s Department of Pediatrics is a recent example of a rare disease-focused project that was supported by ODAT. The PI's team developed a novel approach using genome edited human memory T cells (Tm) for use in the treatment of Hurler syndrome, also known as mucopolysaccharidosis type I (MPS I).
MPS I is a genetic disorder; severe cases of MPS I lead to progressive neurological impairment and death by age 10. The PI is working to form a UMN start-up company around this technology as well.
“ODAT’s mission to improve human health includes gap funding to develop new treatments for rare diseases,” said Sandra Wells, PhD, director of ODAT. “Our ultimate goal is to support the translation of promising new innovations from the lab to real-world impact, such as the project with Drs. Moriarity and Webber. Since 2011, ODAT has supported projects for a number of rare diseases, with a particular emphasis on those impacting pediatric populations.”
Rare Disease Day and related events
Feb. 28, 8am-4pm Rare Disease Day at NIH This daylong event includes four panel sessions and rare disease research stories and testimonials.
March 2, 9am-2pm Diversity in the Rare Disease Community: Challenges for Newborn Screening and Early-life Genetic Testing Equity Hosted by the College of Pharmacy, this event can be attended in-person at the McNamara Alumni Center or virtually.
March 8, 2-3pm Rare Diseases and Orphan Drugs: An Overview and Development of a UMN Database (Clinical Research Professional Development Seminar). Details will be announced soon.
1) According to research recently published in the European Journal of Human Genetics