November 2, 2010
Compassion And Science
More than 15 years ago, I wrote a special section on the prospects of gene therapy for the Houston Chronicle. It was a piece that held more promise than reality, but as part of it, I followed two gene therapy experiments for 18 months. I followed one that made it into human studies.
The study was ahead of its time, and I think we knew it. I know the patient, a brave, taciturn woman surrounded by loving family, had great hopes but realistic expectations. As I got closer to her and family, I too came to have those hopes, but the treatment, as we expected, had limited value. It may have extended her life a year, but it could not save her.
The study was divided into two groups: the physicians who took care of the patients, and the bench scientists who devised the treatment and looked for ways to measure its value. One of them was a young man who had not had contact with patients.
He was a caring person. The treatment actually extended the lives of the healthy mice in which it was tested. One of the mice lived long past its natural span, and he found himself pureeing its food into a mush for the mouse that no longer had any teeth.
His colleagues frequently teased him about his caring.
The day came, however, when that first patient wanted to visit the lab. He looked at me.
"I don't want to be here," he said. "I'm afraid."
"Afraid of what?" I asked.
"I'm afraid it won't work, and then I will feel so bad for her.
He did meet her in the laboratory that day. The treatment did not work, and he felt badly about it, as did everyone.
Science learned from that experiment, and the work has continued. Gene therapy has yet to make it into the clinic as a regular treatment.
Dr. Huda Zoghbi, professor pediatrics, neurology, neuroscience and molecular and human genetics at Baylor College of Medicine remembers the first Rett syndrome patient she met "“ as a second year resident. At the age of two, the youngster, who had been a perfectly healthy normal child, stopped talking and interacting socially. She began to wring her hands obsessively. Why?, Zoghbi wondered.
It became quest for Zoghbi, who identified other children with the rare syndrome that affects mainly girls who, between the ages of 6 and 18 months, lose social skills, the ability to talk and walk.
Walking into an examining room to tell parents the diagnosis was increasingly difficult because she had no solution.
Zoghbi had found her professional passion. In 1999, the Rett gene was found in her laboratory. Since, she had spent much of her time looking at the gene, its protein and trying to determine how mutations make it go wrong.
She has found other disease genes, and she now directs the Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital. In the years she has spent in the laboratory and clinic, she has learned that answers come neither quickly nor easily.
While diagnosing disorders such as Rett syndrome is easier now, many treatments remain elusive. She looks to better studies of normal brain development and improved understanding of the events that happen after the genome is formed (epigenetics) to advance studies that will help people such as that first youngster.
The more we understand the normal brain, the more likely we are to develop ways to help those that develop abnormally.
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