Opitz bolstered research and careers, colleagues say


Drs. Giovanni Neri and Juergen Spranger discuss his influence

AJMG founder Dr. John Opitz's keen observations, vision of how developmental errors arise, and talent as an editor have profoundly influenced medical genetics and the research and clinical work of many, say two former colleagues.

Dr. Opitz, is recipient of the American Society for Human Genetics' 2011 Allan Award

Giovanni Neri, MD, Professor and Chair, Medical Genetics at Catholic University Medical School in Rome, Italy, and Jeurgen Spranger, MD, former Chair and Professor, Pediatrics at University of Mainz in Germany explained to AJMG Sequence how Dr. Opitz has influenced their research and careers.

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Jeurgen Spranger, MD

During a 1968 Baltimore conference, Drs. Spranger and Opitz discovered a common interest in syndromology that grew into a fruitful professional and personal relationship. Dr. Spranger worked with Dr. Opitz at the University of Wisconsin in 1970–1971. During that time, the pair discovered and described geleophysic and campomelic dysplasia.

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Giovanni Neri, MD

Dr. Neri met Dr. Opitz in 1983, when Dr. Opitz visited Dr. Neri's mentor, Angelo Serra, PhD, in Rome. Dr. Neri had been working with Dr. Serra in a cytogenetics lab, but wanted to know more about the clinical manifestations of the conditions identified by tests. “Dr. Opitz was the person to study with,” says Dr. Neri, who shortly thereafter went to work with him at Shodair Children's Hospital in Helena, Montana. Dr. Neri and Dr. Opitz described Perlman syndrome and the cardiofaciocutaneous syndrome during that period. “Any role I have in this discipline is thanks to John,” says Dr. Neri.

Dr. Opitz is a talented teacher, who instructs even outside of professional duties, imbuing his knowledge with history, says Dr. Spranger. “He's probably the only English-speaking person with in-depth knowledge of the beginning of modern biology in the 19th century,” he says. “He carries the past, brings it into the present, and reaches for the future.”

A Master Editor

Both Dr. Spranger, former Editor-in-Chief of the European Journal of Pediatrics, and Dr. Neri, a former AJMG European editor, describe Dr. Opitz as a profoundly talented editor. Dr. Opitz wanted each paper published in AJMG to use “absolutely precise language,” and proper terminology, Dr. Neri recalls. “If I do decent writing now, it's largely owed to his teaching,” he adds. “John has this ability to see the scientific findings in the midst of poor language. He took the time to polish language to make the scientific finding useful for readers. His red-penning of articles submitted to AJMG has become proverbial.”

Dr. Spranger now tries to apply editing skills he learned from Dr. Opitz not only to English but also to his native German tongue by “throwing out the superfluous and finding the right word” and by “putting things in order and simplifying,” he says.

Contributions to Genetics

Dr. Opitz's greatest contribution to medical genetics is his application of the developmental field concept, says Dr. Spranger. Fields are groups of embryo body parts that develop in ordered, temporally synchronized, and hierarchical ways. The concept “explains particular defects that don't seem to belong together,” Spranger notes.

This vision allowed Dr. Opitz to recognize in phenotypes the workings of particular genes, Neri adds. “He started to describe new conditions back in the 1960 s. It's amazing how 30 to 40 years later, genes have been found for most of these conditions,” he says.

Also key to Dr. Opitz's contributions are the depth of his knowledge and his humility. “He sees things you don't see and describes them masterly in English and German, with the proper Latin denomination, if needs. He's like a walking encyclopedia, but what he knows is reflected and understood in the context of history,” Dr. Spranger says.

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