Friday, September 9, 2011

A Pioneer in the Field of Genetics

Eric Engel had never been averse to adversity. As a young internist in Geneva, Switzerland, he soon realized he had little opportunity to achieve his ambitions at his hometown University Hospital. So in 1960 with his wife and three small children, none of whom spoke English, he accepted the position of research fellow at US Massachusetts General Hospital and Harvard Medical School, and so moved to Boston. There he shifted his focus to the study of chromosomes and concentrated on investigating these structures that carry our genes, but in blood cultures rather than in fibroblast (skin) cells as was the norm. He also disengaged from the prevailing practice of predicting hereditary conditions through charting a family tree and calculating mathematical probability, to studying the chromosomes of individuals and their offspring based on clinical analysis and experience instead.

In 1963, leading endocrinologist, Grant Liddle, asked him to move to Nashville, Tennessee to start a Genetics Division at Vanderbilt University within the Department of Medicine. For 15 years he promoted the knowledge and development of genetics there, helping over time to advance the field of human and medical genetics from one few people had heard of to a topic regularly discussed and debated in the general public. His observance of chromosomal aberrations and their effects on health and disease over the years led in 1980 to a scientific article describing an unproven concept he called “uniparental disomy (UPD),” which in effect theorized a chromosomal occurrence that goes against the rules of traditional Mendelian inheritance. Indeed, normally half a person’s chromosomes are inherited from the mother and the other half from the father. But UPD arises when a person inherits both copies of a particular chromosome from one parent (with no copy from the other parent). This idea went against even Mendel’s laws of heredity, but he was convinced it existed and played a role in health and disease, and thus was determined to disseminate the idea.

Unfathomable and unconfirmable, his article on UPD proved difficult to publish. The reviewers were broadly against its appearance. But the editor of the American Journal of Medical Genetics, Dr. John Opitz, decided to publish the piece, a prescient decision, since 7-8 years later molecular laboratory studies began to validate the concept of UPD. Since the identification of the first case of uniparental disomy in 1987, many cases of UPD have been reported, and have contributed to the emerging area of “non-Mendelian inheritance.”

Having returned to Geneva in 1978 as Director of the University Institute of Medical Genetics, the adversity he faced was not in the acceptance of his ideas but of a different nature. Apparently more interested in making money than in advancing science, certain doctors and a private Genetics laboratory in Geneva countered his ability to provide genetic counseling at reduced cost to low-income individuals who had genetic illnesses in their family. Certain gynecologists even sent their patients to the private lab for testing rather than to the University Genetics Institute. Although he lost that battle, as the medical establishment proved fierce in its fight for profit, his patients, students and colleagues recognized him as the brilliant and compassionate medical geneticist that he was.

Over these past few months Eric Engel had been fighting a different war – the right to die. Today, at the age of 85, having received recognition and success in his field of Human Genetics but with setbacks and loss along the way, he died at Geneva University Hospital, struck down by lung cancer and brain metastases. The Good Times would like to recognize someone who served science and mankind above all, persisting in his vision of truth while defying norms and confronting difficulties along the way.