Alexander Bearn, 86; doctor was pioneer in genetic disease
NEW YORK - Dr. Alexander G. Bearn, a physician and scientist whose research on a rare liver disease in the 1950s helped lay the groundwork for the field of human biochemical genetics, died May 15 at his home in Philadelphia. He was 86.
The cause was heart failure, his wife, Margaret, said.
Dr. Bearn was one of the first scientists to unravel the intricacies of Wilson's disease, a potentially fatal buildup of copper in the body. His death follows by six weeks that of I. Herbert Scheinberg, another specialist in hereditary diseases, who helped develop a diagnostic test and treatment for Wilson's disease. Dr. Bearn's work revealed the genetic roots of the disease.
First described in 1912 by Dr. Samuel A. K. Wilson, the disease is caused by a toxic accumulation of dietary copper in the liver, brain, and other organs, leading to progressive neurological and behavioral problems and, if untreated, death. The symptoms - which include erratic behavior, slurred speech, and tremors - are sometimes misinterpreted as schizophrenia or Parkinson's disease. Wilson's disease affects about 1 in 40,000 people.
Dr. Bearn's research showed that the disease is inherited as a recessive trait, meaning that a patient would have received the same abnormal gene from both parents; transmission of the abnormal gene from just one parent would not cause the disease.
The research, in the early 1950s, was done in the early days of human biochemical genetics, Dr. Arno G. Motulsky, a professor of medicine and genome sciences at the University of Washington, in Seattle, said last week.
"And because of his work," Motulsky added, "Wilson's became a good example of a genetic disease that you could diagnose and treat."
Today a patient can be tested for the disease and treated with drugs made to combat it.
"He was one of the pioneers of the application of genetics to medicine," Motulsky said.
In 1971, Dr. Bearn was elected president of the American Society of Human Genetics, and a year later he was elected to the National Academy of Sciences.
But his interests went far beyond science. From 1997 to 2002, Dr. Bearn, as executive officer, led the American Philosophical Society, an organization founded in 1743 by Benjamin Franklin with the stated purpose of "promoting useful knowledge." The society includes scientists, humanists, civic leaders, and cultural figures. Since 1900, more than 260 members have received the Nobel Prize.
Alexander Gordon Bearn, (who preferred to be called Alick) was born in Surrey, England. His father, Edward, was an undersecretary in the Health Ministry.
He received his bachelor's and medical degrees, the latter in 1950, from the University of London. A year later, he came to the United States to do research on rare metabolic diseases at the Rockefeller Institute for Medical Research, now Rockefeller University, in Manhattan. In 1957 he started the human genetics laboratory at the institute, one of the first in the country.
By 1966 Dr. Bearn was chairman of the department of medicine at Cornell University Medical College in Manhattan, where he opened its genetics laboratory, and chief physician at its affiliate, then called New York Hospital.
After more than three decades in academia, he moved into industry in 1979, as senior vice president for medical and scientific affairs at 
