Though geneticist Beverly Emanuel, Ph.D., of Children’s Hospital of Philadelphia has spent almost her entire life and career in Philadelphia — going to Philadelphia public schools and then to Penn — the year she spent as a researcher at the Salk Institute in La Jolla, Calif., in the early ’60s was an important one. It was there that she realized that she didn’t want to be doing someone else’s research.

“I had a lot of questions myself I wanted to ask and answer,” said the professor of pediatrics at Penn.

In December, her determination bore fruit when the international team of more than 200 scientists that she was part of laid out the genetic sequence of chromosome 22. As part of the Human Genome Project, the $3 billion international endeavor to decipher the human genetic code, the accomplishment represents the first human chromosome to be sequenced. This chromosome is associated with some forms of leukemia, tumors, heart defects, cleft palates and learning differences, among other problems.

Emanuel (CW’62,Gr’72) had been researching chromosome 22 since the early ’70s and was a natural to head up the federal government’s initiative to map chromosome 22, a crucial step before sequencing could begin. Nevertheless, her appointment to that post was unusual in that few women scientists reach such heights.

Dressed in a gray pantsuit, with lively blue eyes and curly red hair, CHOP’s human genetics and molecular biology division chief discussed her career during a free moment in her office, with a photo of her husband, obstetrician-gynecologist E. Stephen Emanuel, three children and two granddaughters smiling in the background.

Q. From what I understand, you spent your entire career on this one chromosome. Can you explain how this happened?
A. When I started in human genetics quite a while ago, the first thing that I ever studied as a postdoctoral fellow was a family in which there were two children that had an abnormality of chromosome 22. I was intrigued by it.
   It wasn’t until almost eight to 10 years later that we finally figured out exactly what was going on. In the course of that time, I had become director of the clinical cytogenetics lab [a post she relinquished in 1991] here at Children’s Hospital and was intrigued by the fact that not only this family, but there were many families that we studied who had abnormalities of chromosome 22. I decided I was going to figure out why it was that chromosome 22 was so often involved in abnormalities in children.

Q. I imagine you spend most of your time in the lab, but do you also spend time with the children who have these problems?
A. We do. We have a very multifaceted team. The people who are mostly over in this building are involved in basic research in a laboratory. The work that I’m doing is geared toward trying to understand why the deletion [of part of chromosome 22 in a syndrome known as 22q deletion] occurs and trying to improve on the diagnostics. We have another project where one of our investigators is looking at all of the genes in the deletion to see whether one could pinpoint which of the genes is likely to cause the problem. We have another investigator who’s trying to work using the mouse as a model system.
   At the same time we use a lot of our patient materials in order to look for factors in either the history —the family, the pregnancy history — or other modifiers, if you will, genetic modifiers.

Q. It must be heartbreaking for you to see children with such serious problems. Does that spur your research on?
A. Oh, it absolutely does. I feel very lucky that in my own personal life my children have not had any major problems. I think seeing these families and seeing these children really does make me want to get some answers before I finish.

Q. How did you first become interested in science?
A. When I was in high school, I loved math and science. Probably the most important mentors for me as a high school student were my chemistry and physics teacher and my geometry teacher, who encouraged me. Especially at the time that I was in high school, it wasn’t very fashionable for girls to want to do science.
   When I matriculated to Penn, I realized that I was toying with: Do I want to do research? Do I want to go into medicine? I had the opportunity to work in laboratories during the summer as an undergraduate. I think that clinched it for me.
   In fact, the last summer that I spent as an undergrad, which I guess was the summer of ’61, I worked for a professor in the department of pathology here who shared lab space with [Gaylord P. Harnwell Professor of Pathology and Laboratory Medicine] Peter Nowell (Current, Jan. 28, 1999). At that point in time, that’s when chromosome studies, etc., were just happening. I was always more interested in what Peter Nowell’s lab was doing. So in a sense, it’s almost ironic, because he at that point in time was just figuring out “the Philadelphia chromosome” [a defect involving chromosome 22] and how to make chromosome preparations. Then eventually to come back and have him as a mentor, a colleague and a friend has really been remarkable.

Q. How did you break the glass ceiling?
A. I didn’t think about it, I guess, is probably part of it. Fortunately, I didn’t experience a lot of discrimination or I wouldn’t be where I am.
   Very early in my training, there were a few instances that I would say probably would not have transpired if I had had a y chromosome instead of a second x chromosome. [laughs]

Q. So what attitude do you take in such situations?
A. Rather than saying, Oh, well, there it is again, basically say, No, I won’t tolerate that — and do something about it. I think one has to be positive.
   That being said, I consider it extremely important to mentor women in science. It’s probably no accident that amongst the faculty in my division there are a significant number of women — women who have families and have careers and are successful as well. There need to be good role models for young women.

Q. How did you go about juggling family and career?
A. I had children and was a graduate student and defended my thesis all together. I just did it. [laughs] When I look back, I wonder sometimes. It was pretty wild. My husband would come home and I would leave and I’d spend the night in the lab and do my experiments so I could be home at six o’clock in the morning. But it was only for a circumscribed period of time, and I knew that and [my husband] knew that and the kids knew that.
    There are times that it doesn’t feel perfect. I think one has to be willing to make some compromises on some things and realize you can’t do 100 percent of everything and do it 100 percent perfectly.

Q. Were you a perfectionist before you realized you couldn’t do everything?
A. I think anyone who tries to excel in any way is a perfectionist and you just have to realize, if my clothes aren’t the whitest [laughs] and if I burn the toast from time to time [laughs], I’m not going to die. I think it’s really important to strike a decent balance and decide what are the things that are the most important and be sure you really do those well.

On the cover: Emanuel examines patient test results on chromosome 22.