Academia, advocacy, and industry: A collaborative method for clinical research advancement

Abstract

Professionals who work in academia, advocacy, and industry often carry out mutually exclusive activities related to research and clinical care. However, there are several examples of collaboration among such professionals that ultimately allows for improved scientific and clinical understanding. This commentary recounts our particular experience (a collaboration between geneticists at the Universities of Minnesota and Utah, the 4p-Support Group, and Lineagen, Inc) and reviews other similar projects. We formally propose this collaborative method as a conduit for future clinical research programs. Specifically, we encourage academicians, directors of family/advocacy/support groups, and members of industry to establish partnerships and document their experiences. The medical community as a whole will benefit from such partnerships and, specifically, families will teach us lessons that could never be learned in a laboratory or textbook.

Chromosomal microarray testing identifies a 4p terminal region associated with seizures in Wolf–Hirschhorn syndrome

“…Forty-eight individuals with a diagnosis of WHS, along with their parents, consented to this study during one of two national meetings of the 4p- Support Group held in July 2012 in Indianapolis, Indiana, and July 2014 in Harrisburg, Pennsylvania. 28 In total, 28 females and 20 males with WHS, with an average age of 11.2 years, were recruited into this study ( table 1 ).…”

“…A relatively large, 48-individual cohort was recruited through partnership with the 4p- Support Group. 28 Evaluation of deletion coordinates and seizure phenotypes in this cohort identified a likely seizure susceptibility region within the 751 kbp terminal region of chromosome 4p. Combining these data with cases described in the literature, we narrowed this seizure susceptibility region to a region 197 kbp in size that includes two genes and one pseudogene.…”