A surgeon, a scientist and the path toward progress

Basic science and marketing are at best uneasy companions. Living with them both for any length of time will make you think that they have irreconcilable differences, plain and simple. The reaction provoked by the ENCODE data publicity provides a good recent illustration. 

On the other hand, applied science is quite marketable. Its goals are direct, its benefits apparent to all, including funding agencies. In the biomedical field, it’s known as translational research, and it’s attracting increasing amounts of attention and resources. One has to look no further than the NIH to see examples, including the establishment of the new National Center for Advancing Translational Research.

Is this a problem? Maybe. Ashutosh Jogalekar, a blogger at Scientific American, thinks so. But it’s a matter of balance. Both basic science and translational research are vital components of a research continuum that fuels medical progress. But history shows us that there are often disjunctions between the two and that achieving better flow along the continuum will likely require a different approach.

Curiosity and basic science

In its pure form, basic science is built on a foundation of curiosity. How does something work? Why does it function in a certain way? What happens if a variable is introduced? Over time I’ve come to recognize that two hallmarks of basic scientists (outside of the obvious healthy dollop of intelligence) are a lot of energy and strong, perhaps insatiable curiosity. The pursuit of knowledge, of a tiny sliver of additional understanding, drives their prodigious efforts, even if there’s no obvious practical gain from it.

At the root of the marketing problem lies the tremendous disparity in how different groups answer the question “so what”? For a basic scientist, the answer “it adds to our knowledge/understanding” is sufficient and beyond self-evident. For the public, that’s not an answer at all without more. To what end? Useful for what purpose? Applied in what way? Basic science often lacks straightforward answers.

The funny thing is that, historically, practical gains from basic science have been incredibly profound, if often accidental. The process is incremental and seldom linear. Who knew, for example, that the pesky mold that hindered bacterial cultures in the 1930s would be such an incredible boon to medicine? But slow, circuitous progress does not attract the public eye these days. It may lead somewhere exciting and/or practical to all in the end, but the general public has probably long since given a collective yawn and, as a result, missed the connection.

It’s the application of the basic research discoveries that usually attracts attention and renown, and therein lies the danger. Celebrating and supporting translational research is not a problem in isolation, but it becomes one if basic research is thereby diminished. Just as basic science discoveries are most useful if somehow applied, translational progress is built upon the understanding achieved through basic science.

A death and a lack of continuity

A recent obituary brought to mind an excellent example of an important medical breakthrough that illustrates both success and disjunction in the historical biomedical research continuum.

Joseph Murray died Monday at age 93. Murray was a pioneering surgeon who performed the first successful kidney transplant in 1954, between identical twins. It was a decade later, in the mid-1960s, that organ transplants began to help more than a select few patients, however. It took that long for Dr. Murray and his collaborators to overcome the body’s immune response, which leads to transplant rejection. Only then was it possible for an organ to be transplanted into a recipient from an unrelated donor.

In the widespread media coverage of his death, there was a notable absence. What basic research led to the immunosuppressive drugs Murray needed for successful transplants? Who did the work?

Looming large in the answers to both questions is George Snell, an immunologist who worked at The Jackson Laboratory for decades, starting in 1935. Snell is credited with essentially creating a field of study, immunogenetics. He also identified the genes that comprise the major histocompatibility complex (MHC), which mediates the immune response to foreign proteins, which of course are present on a massive scale in transplanted tissue.

Snell worked with mice and transplanted tumor tissue, but his inquiry into the genetic basis of immune response to foreign tissue revealed a common mechanism between mice and humans. His contributions to science and medicine led to his receiving the 1980 Nobel Prize in Physiology or Medicine, which he shared with two fellow immunology pioneers.

Snell did much of his most important work before 1950, well before Murray performed his first kidney transplant. The gulf between basic science and medicine was large, however, and the application of the knowledge—in this case through Murray’s skilled surgeon’s hands—lagged far behind. What he knew about Snell’s contributions one can only speculate, but it’s probable that the development of Imuran, the immunosuppressive drug tailored by Murray for transplants, would have been greatly accelerated if the two had been in contact. Unfortunately, however, Snell and Murray didn't connect, and the recent passing of the man who applied the knowledge was feted with no mention of those who teased out the workings of the immune system.

Establishing a continuum

The Murray and Snell story illustrates a disconnect between basic science and applied medicine that is longstanding and usually exacerbates the painfully slow and convoluted progression from important discovery to practical clinical use. There are other valid causes, of course, with ensuring patient safety topping the list. But it also speaks to the different perspectives, goals, work styles, and even locations of basic and translational research. The handoff points are rarely clear.

As far as I can tell, the disconnect persists, even in genomics. Moving genomics research into the clinic is far from easy, and much remains in flux. Lisa Lee, executive director of the Presidential Commission for the Study of Bioethical Issues, characterizes it in a recent New York Genome Center blog post as “a period of intense transition with respect to integrating whole-genome sequencing into clinical care.” During this time of transition, we need to work to integrate findings from basic genome research data with human patient care in a coherent way.

That’s one reason I’m excited about the potential for the new genomic medicine institute that The Jackson Laboratory has established in Connecticut, which I mentioned in my previous post. I admit I’m cheering for the home team here, but I think JAX Genomic Medicine presents a tremendous opportunity to develop a better continuum between the basic mammalian genetics/genomics findings for which the Laboratory is known and clinical progress in Connecticut. It’s an exciting time of “intense transition,” but could it also be a time of transition away from the twisty old basic-to-translational-research-to-patient benefit pathway? It will be interesting to see how JAX Genomic Medicine and others contribute.