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For Hanna Gazda, MD, PhD, associate scientist in Genetics at Children’s Hospital Boston, the unpredictable trajectory of her life was triggered by a simple question to which she had no answer.
As a resident at a hospital in Warsaw, Poland, Gazda was treating a teenage boy with Diamond Blackfan Anemia (DBA), a congenital blood condition in which bone marrow can’t produce red blood cells. The weak 18-year-old patient wasn’t responding to any medications and required blood transfusions every month. One day, as Gazda was making her rounds with some medical students in tow, the patient confronted her. “Doctor, you’re talking about my disease, and you present my case to these students, but you don’t really know what’s going on with me, do you?” Gazda recalls him saying. “Why am I sick? Why can’t you fix me?” It was a challenge Gazda accepted, and the beginning of an odyssey that would stretch across continents.
She began collecting DNA samples of children with DBA and their families, convinced of a genetic cause of the disease. The samples would be vital to uncovering the responsible genes. But the more samples she collected, the more she yearned to devote further time to DBA research. Gazda had dabbled in clinical research before, but it was always secondary to her duties as a practicing doctor. “I was thinking I wanted to work on this disease full-time for a few years,” she says.
After creating a registry of children with DBA, Gazda searched for a Polish laboratory interested in having her work on the disease, to no avail. So she expanded her search to include Western Europe, but still there were no takers. Finally, she discovered someone who shared her drive to decipher the cause of DBA: Colin Sieff, MB, BCh, who had a laboratory at the Dana-Farber Cancer Institute. “He had DNA from one large family and needed more,” she says. “I had samples and a real passion for this work.”
Moving to the United States was a difficult decision for Gazda. “I had family, I had friends, my life was there,” she says. But in the end, her desire to understand DBA triumphed. In 1997, she arrived in the United States carrying a suitcase full of DNA samples to add to Sieff’s collection. The goal was to perform a linkage analysis study, which is a gene-tracking technique that traces patterns of heredity in large, high-risk families, in an attempt to locate a disease-causing gene mutation. “The genome is huge, so the point was to find out where the gene is located,” she explains.
A few years later, she joined the laboratory of Alan Beggs, PhD, in Children’s Division of Genetics. Eleven years since arriving in the United States with little but DNA samples and high hopes, Gazda’s work has contributed to science’s understanding of DBA, by identifying seven genes that are mutated in DBA patients. Her work confirmed that DBA is the first identified human disease caused by mutations in ribosomal proteins.
Gazda praises Children’s for its dedication to studying rare diseases, namely its new Manton Center for Orphan Disease Research—the world’s first and only such center. “It’s not easy to get funding for these diseases because they are so uncommon,” she says. “But even if one person is affected, it’s worthwhile to perform studies to save this person.”
She’s still surprised by the path her life has taken. “From the moment I met that patient in Poland, I wanted to work on this disease—I just didn’t think it would take so long,” says Gazda. “I never thought I would be dedicating my whole life to one rare disease.” The boy whose question initially challenged Gazda has died. Although she’s disappointed that her research wasn’t advanced enough to save his life, she’s determined that others won’t share his fate. “In 10 years, we’ll hopefully have a better treatment and maybe even a cure,” she says. |
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