Researching the biology of PXE: partnering in the process

Am J Med Genet. Fall 2001;106(3):177-84. doi: 10.1002/ajmg.10014.

Abstract

PXE International, a disease advocacy group, plays a central role as a catalyst in several research initiatives focused on the biology, epidemiology, and genetics of pseudoxanthoma elasticum (PXE). These initiatives accelerate research on PXE and provide a basis for several productive collaborative partnerships, including a particularly successful professional relationship between PXE International and the Laboratory of Matrix Pathobiology at the University of Hawaii. This partnership was critical in discovering the PXE gene and in beginning the elucidation of the pathobiology of this genetic disorder. Examination of some of the elements of this partnership may be useful for other lay advocacy/professional collaborations.

MeSH terms

  • Communication
  • Confidentiality
  • Cooperative Behavior*
  • Ethics
  • Ethics, Clinical
  • Hawaii
  • Humans
  • Informed Consent
  • International Cooperation
  • Mutation
  • Patient Advocacy / trends*
  • Pseudoxanthoma Elasticum / genetics*
  • Pseudoxanthoma Elasticum / physiopathology
  • Research* / economics
  • Research* / organization & administration
  • Research* / trends
  • Universities