Decisions have to be made about the criteria used to look for mutations. Laboratories, commercial or otherwise, have to agree to do these studies. Each of these decisions could be pushed forward with help from the NMF, just as the dissemination of information about the gene was facilitated by the NMF's actions. We are now at a point where we must continue to gather our research resources and use them wisely. We must ask the important questions and make sure that the answers are available to people with the Marfan syndrome.
Medical research is a cooperative enterprise among physicians, scientists and families.
Nowhere is this better highlighted than in the current state of work on fibrillin and the Marfan syndrome. We need to maintain the momentum that was generated with finding the gene. At this time, with federal resources decreasing, the role of private foundations, such as the NMF, becomes increasingly important. The data collected to date support the initially proposed concept of finding certain classes of mutations associated with each of the biosynthetic groups. In contrast, quantitative protein-based assays are quite sensitive, easier to perform, faster and promise to provide useful diagnostic and prognostic tools for the future, when viewed in conjunction with clinical findings.