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Michigan State University
Spartan Sagas

Andrea Amalfitano
Alumnus, 1984, 1990, and 
Faculty
East Lansing, Michigan

Hope plays an important role and, in fact, it is one that consumes me. I am a physician and I’m a scientist, so I combine the two. I teach medical students, graduate students, undergraduate students. I diagnose all kinds of genetic disorders. That’s what I do.

I see the rarest of the rare things. Many times being diagnosed with something rare is not good news. Many times it means very bad outcomes, unfortunately. So I spend a lot of time trying to explain that to families, understand what they are dealing with and, best to my ability, give them prognosis information as well as many things we can do may not be a direct cure, but many times we can support and make things easier.

Pompe disease is a genetic disorder of, it turns out, not only the heart muscle but also limb muscles—the muscles of your arms and legs—as well as the muscles that control your breathing. If you happen to have the form of the disease where it is showing up very early, within a couple months of birth, you are very much at a higher risk of dying from that disorder because the severity is such that it affects your muscles that much more rapidly. It affects your heart that much more rapidly. The typical life span, up until a few years ago, you wouldn’t live past the age of two.

I had the opportunity to participate in a clinical trial in which we first attempted a treatment for this disorder in the United States. And subsequent to that, based upon a number of studies both in the United States and internationally, a drug was derived exactly from the drug we had initially studied and that is now available to all Pompe patients worldwide.

So now in my clinic, I have the opportunity to see these patients. They still turn up. They are still being diagnosed, but now I can prescribe something for which a few years ago there was nothing. Within a year or two, we find dramatic, not only stalling of the disease process but actually reversal. And now these children are coming in and seeing me, and they are able to hop about the room, hop up on the bed to see me, and they are actually happy to see the doctor. And that is very fulfilling for me to see that, in fact, we can do that kind of a dramatic impact on these cases.

We can now use some of the gene transfer technologies that we’ve developed in my lab and use them to attack other diseases that you might not necessarily think are genetic. I will give you an example: colon cancer.

Another example where we are attempting to develop gene transfer strategies is vaccines for common—not common—but infections. For example, AIDS is one that we are targeting as well as more recently we just published papers describing our attempts to develop a malaria vaccine. These are diseases—HIV, AIDS, and malaria—that are a scourge and continue to be. They are very difficult targets to attempt to treat with vaccines, unlike some other diseases that your children may routinely get vaccinated for their first couple of years of life. And in order to attack these diseases requires state‑of‑the‑art technology. And in our learning about these systems, we are finding that maybe the technologies we’ve got and we have developed for other diseases can be adapted. And, in fact, we are doing that and moving these things into human clinical trials as well.

If I was strictly in the laboratory, I personally just think I would not have a clue about many of the conditions or the diseases that I am attempting to treat right now based on our research. Being in contact with patients at a bare minimum is just sobering—to see what families go through when they are affected with a certain disorder really just humbles you. It also humbles you about how much we don’t know about many diseases. Certainly, there is a lot we do know, but I am constantly learning new things from my patients.

The day you think you know everything is the day you should probably not be a doctor, because there is just too much out there that still we don’t know. And patients teach me a lot. Every time I finally get in and talk with a patient or a patient’s family one on one, it just reaffirms for me why I am there and why I have chosen this field. And I would recommend that to any of the medical students that are thinking about coming to medical school that it truly is a fulfilling career choice.