Principal investigators (PIs) who focus on rare disease studies might be missing out on new tools and innovative ways to share and disseminate information to benefit the wider clinical trial community, says Margot Cousins, PhD, a research fellow at the Mayo Clinical in Rochester, Minn. Her specialty is pediatric diseases with a neurological component.
Many of the parents who come to Cousins’ clinic have been on a “diagnostic odyssey,” with specialists and clinicians being unable to identify the cause of a child’s medical challenge. While rare diseases taken individually lack significant patient numbers for many studies, there are sometimes useful similarities between them and other afflictions in which inherited genetics play an important role. In some instances, observational trends and data that might seem irrelevant to one affliction could be applied elsewhere, Cousins says.
More and more genetic data are available every day thanks to technologies in DNA sequencing, Cousins adds, saying, “Everyone knows the importance of these data.” Unfortunately, some are unaware of publicly available information resources that can make it easier to share and analyze such data.
Webinar: Significant Strides in Rare Diseases Through Personalized Medicine — Join Cousins August 22 to learn about research efforts to identify the genetic cause of disease in individuals where a genetic diagnosis has been elusive with traditional strategies and the potential benefits to patients and families. Gain an understanding of the challenges to the study of rare genetic disease and hear examples of the collaborative and multidisciplinary research advancing this field. View Program Details
Another challenge: “It’s often tough to understand these data in a clinical report,” Cousins says. “We need to find better ways to get that information back to patients, and to share that information to advance” medical devices, drugs, and other solutions for better leveraging data culled from DNA sequencing.
Author: Michael Causey