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Encomium: Giovanni Neri-Polyhedral and down-to-earth mentor

2013; Wiley; Volume: 161; Issue: 11 Linguagem: Inglês

10.1002/ajmg.a.36261

1552-4833

Maurizio Genuardi, Fiorella Gurrieri, Marcella Zollino,

Cancer Genomics and Diagnostics

I've never been certain whether the moral of the Icarus story should only be, as is generally accepted, “don't try to fly too high,” or whether it might also be thought of as “forget the wax and feathers, and do a better job on the wings.” (Stanley Kubrick) On October 31, 2013, Giovanni Neri retired from his academic position at the Catholic University in Rome. His constantly inspiring and reassuring daily presence will be missed by colleagues and trainees at the Institute of Medical Genetics. Giovanni was born on May 15, 1943, in Novellara. His father was a general practitioner in this town located in the district of Reggio Emilia (Northern Italy). After graduation from high school in Reggio Emilia, he began his medical training in 1961. He enrolled in the first year of the newly opened School of Medicine of the Catholic University, dedicated to Father Agostino Gemelli, a highly influential academic physician and experimental psychologist in the Italian society during the first half of the 20th century. When Giovanni obtained the medical degree in 1967, he was awarded the De Gaetani Prize for the best dissertation of the year. Being one of the first medical graduates from this university, he has always maintained a strong feeling of belonging to this institution. Most of his clinical and academic practice has been carried out there, and he has constantly strived to keep it on a level of excellence in clinical care, teaching, and research. During his medical school years Giovanni began to develop an interest in experimental oncology, carrying out an internship in the Institute of General Pathology, led by Prof. Tullio Terranova. His first scientific publication, coauthored, among others, by his friend Tommaso Galeotti, who would later become Professor of General Pathology and Dean of the Catholic University, dates back to those years [Terranova et al., 1967]. In the initial years of his post-graduate career, the focus of his research has mainly been on biochemistry. In 1968, Giovanni became Assistant Professor at the Institute of General Pathology of the University of Perugia, from where he took a leave of absence to move to Houston in 1969. Here he worked first on the metabolism of glysosaminoglycans with Nicola Di Ferrante at the Department of Biochemistry, Baylor College of Medicine, and then on the nature and role of surface glycopeptides in rat tumor cells with Earl Walborg, in the Department of Biochemistry of the M.D. Anderson Cancer Center. After his return to Italy in 1972, Giovanni kept his main research focus on cancer, working in Perugia and, in 1973–1974, at the Regina Elena Tumor Institute in Rome. Here his mentors were Prof. Antonio Caputo, who would later be appointed Scientific Director of the Institute, and Prof. Leone Castelli, who introduced him to the study of the role of viruses in cancer. Giovanni's direct involvement in genetics started following an encounter with Professor Angelo Serra, Director of the Institute of Human Genetics at the Catholic University [Neri and Opitz, 1990]. While in Houston, he had been attracted by human genetics and had developed a close friendship with Alfred Knudson [Knudson, this 2013], who at that time was conceiving the two-hit theory of carcinogenesis [Knudson, 1971]. Giovanni also had a strong desire to be involved in patient care. At the same time, Prof. Serra was keen to enroll a physician to introduce clinical activities in the Institute. Giovanni found the proposal highly attractive, as it also allowed him to continue research on topics related to oncology. Prof. Serra has been a key figure for many coworkers, fellows, and students of the Institute of Human Genetics as well as the entire Catholic University. Giovanni had the privilege to be his closest collaborator, and together they established the clinical and diagnostic facilities in the Institute. He has always acknowledged the importance of this acquaintance not only for his career and scientific achievements but also for the influx it had on forging his views and attitude in research, in clinical practice and in life in general. After taking the position of Assistant Professor at the Catholic University in 1974, Giovanni continued to pursue his interest in cancer research. He collaborated with Earl Walborg at the University of Texas in Houston and with Elliot Ossermann, a leading researcher in plasma cell diseases, at Columbia University in New York, visiting these institutions on several occasions. As he became involved in the clinical unit, the Clinical Cytogenetics service, affiliated with the university hospital, the focus of his research gradually shifted towards cytogenetics and medical genetics. He published several papers on reproductive risks associated with chromosome translocations, on the presence of Y chromosome material in 45,X males, on chromosome alterations in hematological malignancies, and on interesting clinical cases associated with unusual cytogenetic anomalies. In 1983, Giovanni was appointed Associate Professor of Medical Genetics at the Catholic University. At the end of this year he began a 6-month sabbatical period at the Shodair Children's Hospital, where he trained in clinical genetics under the supervision of John Opitz. This period was of paramount importance for his professional development not only because he consolidated his experience in clinical genetics, but also because it was the beginning of a fruitful professional relationship and close friendship between the two. Since then John Opitz has regularly visited Italy for many years teaching at meetings, at courses and in the clinic. Giovanni visited John at the University of Utah in Salt Lake City for another 2 months in 1999, while John spent a sabbatical year at the Catholic University in Rome in 2001–2002. An account of Giovanni's experience with John is given in a paper published in a Special Issue of the American Journal of Medical Genetics honoring John, that describes Giovanni's acquaintance with the FG, CFC and Perlman syndromes [Neri, 2006]. He kept a continuous interest on these conditions and his clinical observations have been instrumental in the identification of the genes causing the CFC and Perlman syndromes [Astuti et al., 2012; Niihori et al., 2006]. He pioneered the observation of phenotypic similarities among different syndromes caused by defects of genes belonging to the RAS/MAPK pathway [Kavamura, this 2013]. He is also a member of the Medical Advisory Board of CFC International, a support group for families with this syndrome based in the U.S., and has regularly attended the meetings organized by the group (Fig. 1). From the above account, it is clearly difficult to embody Giovanni's interests within a single specific theme. However, among the many topics of interest, he continues to have a special affection for the fragile X syndrome, which initially grew in the early 1980s. In addition to the cytogenetic, clinical and molecular aspects of this condition, he has investigated experimental treatments in vitro and conducted clinical trials in vivo. Giovanni's dedication to research in the fragile X field is representative of his constant proposition to improve the conditions of children with intellectual disability and of their families. He has been instrumental in driving the foundation and in organizing annual meetings and other activities of the Associazione Italiana Sindrome X Fragile (Italian Fragile X Syndrome Association), of which he has been a member of the scientific committee since its birth. Giovanni became Full Professor of Medical Genetics in 1986. For 3 years, he carried out this role at the University of Chieti, until in 1989 he moved back to the Catholic University, succeeding to Prof. Serra as head of the Institute of Human Genetics, that he renamed Institute of Medical Genetics, to highlight its clinical mission. At the same time, he changed the name of the clinical unit into the Medical Genetics Service, to make it more adherent to the wide range of ongoing clinical and diagnostic activities. Under his guidance, the Institute and the clinical service have steadily grown until these days. Giovanni has fostered the development and the growth of new research areas, discussing new ideas, encouraging attractive projects and providing scientific advice and support. To mention a few, he has been particularly involved in the fields of multiple congenital anomalies/intellectual disability syndromes, genomic disorders, limb malformations, inherited colorectal cancer, and spinal muscular atrophies. Overall, these wide scientific interests have led him to author more than 400 scientific papers, mostly published in international journals. He also coauthored a textbook on overgrowth syndromes with M. Michael Cohen Jr. and Rosanna Weksberg [Cohen et al., 2001]. Giovanni has been an enthusiastic teacher and mentor. Since his first appointment at the Catholic University, he has been in charge of teaching medical genetics to students and residents enrolled in the medical degree program and in other courses. He has been Dean of the Nursing School since its establishment. In 1991, he established the Residency Program in Medical Genetics, which he has directed for more than 20 years, and in 2002 he created the Ph.D. School in Molecular Genetics, which provided a tremendous drive to the scientific life of the Institute allowing the recruitment of a conspicuous number of young talented trainees in the arena of genetic research. Researchers, clinical staff and trainees appreciated the many occasions of scientific and clinical exchange that occurred during seminars, journal clubs, and especially during bi-monthly clinical case presentation sessions, during which undiagnosed, unusual, challenging or paradigmatic pre- and postnatal cases were collegially discussed. These also attracted professionals from other institutions. We also particularly enjoyed the brainstorming that occurred in the relaxed atmosphere of nice locations during the yearly scientific retreats of the Institute of Medical Genetics. These 1-day meetings, usually held outside of the city of Rome, were dedicated to collegial discussions of ongoing research projects. Giovanni has organized this activity with great enthusiasm for almost 20 years; in 2013 the XIX Yearly Scientific Retreat took place in the magnificent scenery of Castel Gandolfo, in Rome neighborhoods. Giovanni's unceasing teaching activity reached beyond the borders of the Catholic University. He has promoted and actively participated to the organization of several meetings, including: the yearly national meetings of clinical genetics in the last 14 years; from 1997, a national biennial symposium on Medical Genetics at the Catholic University, to which several renown national and international scientists have been invited; and, from 2005, the biennial European Course of Dysmorphology “What I know best” which has attracted about 250 participants from all over Europe every time. A memorable event organized by Giovanni under the auspices of the Holy See of the Roman Catholic Church was the “International Symposium: The Human Genome,” held in the theater of the Royal Palace in Naples as part of the celebrations of the Great Jubilee of year 2000; among the speakers were Nobel laureate James Watson, Victor McKusick, John Opitz, Alfred Knudson, Luca Cavalli Sforza, Lena Peltonen, and Marcello Siniscalco. Finally, his most recent endeavors, the “Second Symposium on ATP1A3 in disease: Genotype/Phenotype Correlations, modeling and identification of potential targets for treatment” and the National Meeting of the Italian Society of Human Genetics, both held in Rome, date just to September 2013, not to mention the above named Fifth European Course of Dysmorphology, on November 15–16 of this year. An achievement of which he is particularly proud is an Italian textbook of medical genetics [Neri and Genuardi, 2010], widely adopted in universities across the country, to which many of his collaborators have contributed. Giovanni is an active member of several national and international scientific societies, in which he also had managing roles: past president of the Italian Association of Medical Genetics (AIGM) and president of the Italian Society of Human Genetics from 2011 until September 2013. He is currently also a member of the Scientific Planning Committee of the European Society of Human Genetics. Many readers of the Journal will remember Giovanni's remarkable contribution as European editor for several years, a work that he undertook with passion and dedication. He is currently an Advisory Editor to the AJMG. In spite of an intense and tireless professional life, Giovanni cultivates interests in classical music, history, literature, cinema, arts, and sports (especially the real football, soccer: every Monday morning at coffee break he enjoys to comment on the Sunday matches of the Italian major league with other soccer fans!). And above all stands his beloved family: Enrica, his wife, met when they both were students at the Catholic University, who is an expert in fetal pathology; Paola, Alberto and Caterina, his children; and Mia, Margherita, Enrico, Giovanni, his grandchildren. All of the above accomplishments have been constantly nurtured by a deep Catholic faith, which has strongly inspired all actions in both his personal and professional life. Not a surprise then, if Giovanni has recently borrowed from the Second Epistle of Paul to Timothy this sentence to describe his feeling on the eve of his retirement: “I have fought a good fight, I have finished my course, I have kept the faith.” We were very lucky to have Giovanni as our mentor for many reasons. Not only he is a wonderful and pleasant group leader, teacher, and man, but, very importantly, he has fostered autonomy in the development of our careers. The trust given to his collaborators was the expression of a sense of mutual esteem. His polyhedral knowledge and experience in many fields of genetics and his ability to combine clinical and laboratory expertise have been instrumental to solve difficult cases and to devise innovative research questions. This has taught us the importance of a comprehensive approach in our clinical and research duties. At the same time, Giovanni has the ability to discern the essential biological and clinical questions and to focus on these. This attitude is perfectly described in the quote from Stanley Kubrick, one of his favorite movie directors, shown at the beginning of this Encomium. With all his trainees and collaborators Giovanni has always been supportive, encouraging, and patient. Overall Giovanni has built a school in itself! We are convinced that his drive towards science and medicine will not cease, as “The purpose of learning is growth, and our minds, unlike our bodies, can continue growing as long as we live” (Mortimer J Adler). It's hard to envisage him far from teaching, patients and research after such an intense academic life, and we look forward to keep on having many stimulating and instructive scientific and clinical discussions with him. We are indebted to Luciana Amato for providing the photograph included in this Encomium, and for her marvelous help in organizing the presentation of this issue of the American Journal of Medical Genetics, dedicated to Giovanni, during the Fifth European Course of Dysmorphology “What I know best,” held at the Catholic University on November 15, 2013. Luciana has been the administrative assistant of the Institute of Medical Genetics at the Catholic University for more than 30 years and has collaborated very closely with Giovanni since he became Director of the Institute. Giovanni's achievements, as well as those of the Institute, would not have been possible without the contributions of Luciana and of all his other collaborators in these years. We are extremely grateful to John Carey, Raoul Hennekam and John Opitz for their enthusiastic acceptance of the idea of a journal issue to honor Giovanni, for their wonderful support and for the patience they manifested with dealing with us during this endeavor. Finally, we deeply thank all of Giovanni's friends, colleagues, and trainees, who have made this celebration possible by accepting to submit the manuscripts included in this issue.