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New NICHD Clinical Director Brings Personal Touch

By Melissa Braddock

A photograph of a young boy playing with toys sits on Dr. Stephen Kaler's bookshelf. The child appears no different than any other his age. What sets him apart is that he is among the first patients Kaler successfully treated for Menkes disease, a rare neurological disorder that kills male infants before their third birthday.

"As a parent as well as a physician, I feel a deep connection with these boys and their families," Kaler said. "There is no health quite as vibrant as a child's, and so no illness is quite as dramatic. Often the parents of these patients have the pain of watching the transition from apparent good health to essentially irrevocable sickness. I'm very gratified that our work has helped improve this situation."

Dr. Stephen Kaler

As NICHD's new clinical director, Kaler will oversee nearly 100 research protocols that comprise the institute's intramural clinical research program. He seeks to enhance a program that is already strong; the institute's current clinical program includes research on genetic disorders, endocrine disease, growth, development and reproduction, as well as national and international public health concerns in maternal and child health.

"There's a mature program of clinical trials already established here and the scope of studies is broad. My work will be to refine and re-craft the direction of the program in small ways in order to maintain excellence where it exists and foster it in other areas," Kaler said.

He obtained his undergraduate degree from Boston College and his M.D. from the University of Rochester. After training in internal medicine and pediatrics, he came to NIH in 1988 as a clinical associate in medical genetics in the section on human biochemical genetics at NICHD.

It was here that he began his work with Menkes disease, a neurodegenerative disorder of copper transport that affects about 1 in 100,000 male infants. Although children with Menkes disease seem normal at birth, parents start noticing convulsions and other neurological problems by 3 months. Most patients die before age 3.

In work published in the journal Nature Genetics, Kaler identified genetic mutations responsible for this disorder. These defects were shown to disrupt proper messenger RNA splicing, a finding that provided insight about normal RNA processing in mammalian cells.

In 1995, Kaler moved on to the position of director of biochemical and molecular genetics at Children's Hospital in Washington, D.C., a post he held for 5 years.

"Looking back, that was a very formative stint for me," he said. "I had opportunities to work and direct others in a very busy clinical setting and in a high-volume diagnostics lab, as well as at the research bench. In that environment, surrounded by others who are doing it all effectively, one learns the skills needed for survival and success in the world of academic medicine."

While working at Children's, Kaler also attended George Washington University on nights and weekends to earn a master's degree in public health, emphasizing epidemiology, biostatistics, and international public health. Last year, he returned to NIH as deputy associate director for disease prevention in the Office of the NIH Director, maintaining his research activities as an adjunct investigator in NINDS. He has found the public health training and perspective useful in considering his own clinical trials and expects it to be an asset in his new position.

"As we move forward in the genomics era, public health and disease prevention will increasingly become allied with genetics," Kaler predicts. "The future clinical investigations we perform here should reflect this trend."

Along with his new responsibilities, Kaler will continue to serve as an attending physician in NHGRI and to pursue his own research as head of the unit on pediatric genetics in NICHD. At least in part, this will involve further research on Menkes disease. He and his colleagues are trying to find out why early treatment with copper supplements doesn't work for all Menkes patients. He suspects that those who do not respond have problems transporting the copper through the blood-brain barrier, and he is now devising ways to administer treatment directly to the brain.

In his first weeks in his new position, Kaler has enjoyed the chance for a broad overview of the clinical science going on in the institute.

"In your own lab, you can become so focused on your own fields of interest that you frequently don't see the larger picture. It's been amazing to glimpse the breadth and depth of this program," Kaler said. "In addition to their scientific competence, the NICHD clinical investigators have tremendous compassion and commitment toward their patients, which is very meaningful for me. While I intend to impart my own mark on the program, I also know I'll learn very significantly from my association with these other physician scientists and from the NICHD leadership that has assembled this remarkable program."

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