Saturday, February 05, 2005

the research questions that matter

Weekends provide a little time to get a few things done around the house, take care of my parrot, and time to think about the kinds of research I might want to do for the rest of my life.

Yesterday, we had a very interesting lunch talk about translational research, specifically the relationship between mutations in the Nkx2-5 gene and pediatric heart disease. It's an interesting research problem that mutations in this particular gene cause a wide variety of cardiac problems, from AV block, to atrial septal defect, and even teratology of fallot (and that knowing a patient has a particular mutation is not exactly predictive of the type of defect that the patient will develop.) To address the problem, mouse models have been developed with varying success. I'd imagine that this research will eventually lead to new treatments for the acquired defects, but what about the congenital defects? We know that mutations in Nkx2-5 generally follow an autosomal dominant form of inheritance, so there is genetic counseling. Surgical techniques can obviously repair many of cardiac defects, but can the current research approach answer any questions on how to prevent them from occurring in the first place? And is that even a worthwhile research question?

Along a similar vein, this article on progeria (nytimes) made me think about another aspect of genetics based research. The families were obviously overjoyed when the defect in Laminin A was discovered, but in the short term discovery of this defect will probably do more to elucidate questions on cell structure than provide an effective treatment for kids with progeria. As a scientist, I know that we should be happy when research gives a clue towards any problem--not just the one we are trying to study. And I'm sure the progeria families are glad that all the efforts they've made towards raising awareness and research funds will be able to help someone, if not their children. But if you were the scientist studying progeria, how would you tell a family that by studying their child, you were able to develop something that could help someone who was 60 years old?

As someone who ultimately wants to do neuroimaging research with people, I will be more likely to be in contact with people who have the very disease I am studying. I'll also probably be seeing that type of patient in my clinics. Knowing that I will potentially have to explain my research motivations to my subjects, I know I will want to be very careful in selecting my questions. I'd like to say that all the research I will do will directly help the people I am studying, but I know that is not exactly realistic. All I can hope is that the work that I do will be worthwhile, and will make a difference in someone's life, even if it is long after I leave medicine and science.