Living and Studying Alopecia

By CLAUDIA DREIFUS

Published: December 27, 2010

Angela Christiano, 45, an associate professor of dermatology and genetics at Columbia University Medical Center, studies hair. Last summer, she announced the discovery of the genes implicated in alopecia areata, the hair-loss disease that she herself suffers from. We spoke for two hours in her Washington Heights laboratory and then later on the telephone. An edited version of the two conversations follows.

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Ruth Fremson/The New York Times

HAND OF FATE Angela Christiano studied alopecia soon after her diagnosis.

Dr. Angela Christiano on living with hair loss and why treating alopecia is more than just treating a cosmetic issue.

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Q. When did you first learn that you had alopecia?

A. In 1995, a time of big transitions in my life. After doing highly successful postdoctoral research on genetic blistering skin diseases at Jefferson Medical College, I’d arrived here at Columbia to start my own laboratory. I had just turned 30. I was getting a divorce. When you start your first lab, a researcher is expected to find something different from their postdoc work. For my first six months here, I sat thinking, “What am I going to do when I grow up?”

In the midst of all this, I went to a beauty parlor and the stylist said: “What’s happened here? You have a big patch of hair missing from the back of your head.” I ignored that. But the next day at the lab, I asked a colleague to take a look. She let out a bloodcurdling scream: “You have a huge bald spot!”

I immediately went over to the clinic here. They said: “Oh, you have alopecia. There’s not much we can do to treat it.”

Q. Alopecia is genetic. Do you have relatives with it?

A. My mom and her mother had hair loss from a young age. I have a cousin also who lost all of her hair. Ironically, hair is a big part of my family’s life. My grandfather was a barber in Italy and then later in New Jersey. And my mother was a hairdresser before retiring. I’m the first person in my family to go to college and graduate school: Rutgers. My mother now says, “You’re just another hair person — you just do it differently.”

Q. How did this history lead to your research?

A. In the months after my diagnosis, I went through panic and shock. Every morning, I’d wake up wondering if it was all going to fall out. And new spots did show up. I’d cover them with the most careful combing. Then there’d be a new one. It was like plugging holes in a dam. It finally stopped after two years.

I began reading all the papers on alopecia. In my training, nobody had talked much about hair. I thought maybe the reason was because it had all been figured out. When I started digging, I saw the opposite was true. I thought, “Maybe this is the hand of fate directing me to a topic? This is a wide-open field.” If I could identify the genes involved in alopecia, then maybe we could figure out what they did, and that might be the way to a treatment.

Having the chance to work it through in the lab was one of the things that kept me sane in this period of my life. The disease was very destabilizing.

Q. Why had hair loss been so minimally researched?

A. I suspect it’s because it’s seen as a “cosmetic” problem. It’s the life-threatening diseases that get priority — and money. The other problem was that in 1996, the tools weren’t ready. The Human Genome Project hadn’t finished its work. There were no road maps. Nobody had yet solved a complex disease where multiple genes are involved, which is what alopecia is.

Q. So how’d you overcome that?

A. You could see the tools were on their way. Every year, you’d go to conventions and there was excitement about what was coming. My plan was to get all the ducks in a row for when the genome was mapped. While we waited, we tried to lay some groundwork by trying to find single genes that control the normal hair growth cycle. By looking for rare hair-loss diseases where only one gene was the factor, we learned some of that. My lab found six such genes.

The other thing we did was to line up a patient registry for alopecia. That way, when the time was right, we could compare the genomes of people with the disease to those of people without it. An advocacy group, National Alopecia Areata Foundation, N.A.A.F., helped us connect with patients.

Q. When were you able to actually do the study?

A. In 2008. We published our findings this past July. Ours was the first study of alopecia to use a genome-wide approach. By checking the DNA of 1,000 alopecia patients against a control group of 1,000 without it, we identified 139 markers for the disease across the genome.

We also found a big surprise. For years, people thought that alopecia was probably the stepchild of autoimmune skin diseases like psoriasis and vitiligo. The astonishing news is that it shares virtually no genes with those. It’s actually linked to rheumatoid arthritis, diabetes 1 and celiac disease.

Q. What will this new information mean for patients?

A. It should have amazing benefits. There are existing drugs on the market for several of these diseases. Based on the overlapping genetics, we have a chance of pushing forward with clinical trials for potentially effective drugs much sooner than we’d thought. One approach would be as a new indication for an already approved drug.

Going the other way, our research opens up possibilities for the three related diseases. With them, till now it’s been hard to study aspects of how the immune response goes wrong because it is difficult to biopsy the pancreas or a joint. But now researchers might be able to use a patient’s skin, a much more accessible organ.

Already, the finding has helped with diagnosis. At Columbia, we have large clinics for diabetes and celiac disease. Since we’ve published our paper, those clinics are asking patients, “Have you experienced hair loss?” About 10 percent say, “Oh, yes, I lose hair in clumps.”

Q. What does it feel like to have accomplished this?

A. It’s wonderful, of course. This summer, I spoke at the patient conference of N.A.A.F. and told the young people there, for the first time, about their genes. Before I could finish my talk, they gave me a standing ovation. I was in tears. Many of them later said, “We wouldn’t wish this on you, but we’re glad you got this disease.”

I understood what they meant. Without it, a serious geneticist might never have given their attention to what was thought of as a cosmetic disease.