An Eclectic Path to Precision Medicine

Stephen Emerson entered Haverford College with the aim of becoming an astronomer-mathematician. That is, until he met Ariel Loewy, a biology professor on the faculty who encouraged him to change his focus.

He said, All the asteroids and stars are going to be there for the next billion yearslet someone else worry about them, Emerson recalled. Why dont you study whatever science you want but think about applying it to cells and molecules and maybe someday even people?

Emerson spent a summer working in Loewys lab at the small liberal arts college and was hooked, graduating with a double major in chemistry and philosophy. Since then, his career trajectory has continued to take unexpected turns. He spent 13 years as the chief of hematology/oncology at the University of Pennsylvania, where he became a renowned expert in bone marrow stem cell biology, and his labs research in bone marrow stem cell transplantation led to many new medical therapies.

In 2006 he was asked to serve as president of his alma mater. After saying, Huh? but then talking it over, I said I would do it because I owed Haverford my career, Emerson said. I loved the college, and I loved serving as its president. But one wrenching stock market crash [in 2008] while running a small college was enough for me. In all, Emerson was at Haverford just under five years when the call came from Columbia and he returned to medicine full time.

As director of the Herbert Irving Comprehensive Cancer Center at Columbia University Medical Center, he is among a group of Columbia scientists homing in on innovative ways to treat diseases that target a patients genome, sometimes called personalized or precision medicine, which President Lee C. Bollinger has made a University-wide initiative.

And despite his 40 years as a scientist, Emerson remains an advocate of the liberal arts education that changed his life. Honestly, I use the philosophy just as much as I use the chemistry, he said.

Some people call it personalized medicine, which I think is a misnomer because in a sense weve always done personalized medicineits what a good doctor does. Whats new now is we know a lot more about the biology of diseases. And what were starting to realize is that what looked like the same disease among patients can actually be different diseases that just happen to look the same. Many of these illnesses are caused by random mutations in someones DNA within one cell, which can in turn change the function of a key protein, which makes a cell grow abnormally, as a cancer. Since the site of the mutation on the chromosome will be random, and different, for each cancer, every cancer will be fundamentally unique. One patients leukemia will not necessarily be the same as anothers, so the treatment for them should be different depending on the actual cause of the disease in their cells.

Theres a disease called chronic myelogenous leukemia, or CML, which is caused by one genetic change. Its very rare, but if you get this changeand bear in mind, its a single gene change, not twoit turns out that one medicine can control it. In fact, thats how precision medicine started, in a case where one gene was abnormal. In fact, you dont need that gene to work at all; its like the appendix of cells. You can poison this gene and from then on the patients CML cells will behave as if they were normal. The disease is still there, you didnt cure it, but the cells from then on will grow normally. Its amazing.

As you can imagine, the success with treating CML based on its single mutation led people to say, Why dont we do this for all cancers? It turns out there are very few cancers like that; usually its a combination of two or three genes gone wrong, and theyre all very different. But with DNA sequencing becoming more available, and with better computer power to analyze it, we can now perform a complete DNA sequence for any cancer, analyze it with the best computer power and brainpower available, and combine that sequencing information with what we already know about the genes involved. From there we can take a pretty educated guess as to what key gene is causing the problem, and then go to the shelf and try a medicine that might work in a clinical trial. Or put that abnormal gene into the tumor of a little mouse, try 50 different best guesses as to what medicine might work, pick the one thats most effective, and use that for the patient.

Yes. Oncology is the poster child for personalized medicine right now because you can have cancers that look the same under the microscope but are totally different in terms of what genes have been disrupted, which ones cause the cancer. So you have to use a treatment that specifically addresses that cause. But while this revolution has begun in cancer, it will spread to other parts of medicine in ways we cant foresee. Its only starting to be applied to other specialties.

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An Eclectic Path to Precision Medicine