Intrinsically, these are very difficult studies to conduct. These studies are often difficult to fund through government agencies, but they could be the way that smaller groups, such as the NMF, can influence research directions. Clinical studies received a big boost from the identification of the fibrillin gene because it became possible to begin to ask if the natural history of Marfan syndrome in different people was a reflection of the mutations in the gene. While it seems at first glance that these would be straightforward questions, they do require considerable effort. The resources for mutation identification must be established.
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.