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2016 Curt Stern Award Introduction: Brendan Lee 1

2017; Elsevier BV; Volume: 100; Issue: 3 Linguagem: Inglês

10.1016/j.ajhg.2017.01.007

1537-6605

Arthur L. Beaudet,

Genetics and Neurodevelopmental Disorders

It is my distinct pleasure to introduce Brendan Lee as the 2016 recipient of the Curt Stern Award. In his introduction to the 2012 award, Evan Eichler provided biographical information on Curt Stern, which you can find published in the American Journal of Human Genetics.1Eichler E.E. 2012 introduction to the Curt Stern Award: Jay Shendure.Am. J. Hum. Genet. 2013; 92: 338-339Abstract Full Text Full Text PDF PubMed Scopus (1) Google Scholar In brief, he was an Ashkenazi German who correctly interpreted the coming Nazi horrors and fled in 1933. I knew of Curt Stern through the third edition of his book entitled Principles of Human Genetics.2Stern C. Principles of Human Genetics.Third Edition. W.H. Freeman, 1960Google Scholar Having never taken a genetics fellowship, as a new faculty member in 1971, I believe that I learned more genetics in my very early years from this book than from any other single source. Although Stern was a Drosophila geneticist who made major contributions to understanding the role of radiation in genetics, he said that he wrote the book to “to feed the needs of premedical students.” Brendan Lee was born in Hong Kong at a time when the US was more welcoming toward immigrants. He came to New York City at about 5 or 6 years of age. He went through first grade in Hong Kong, where his education included both Buddhist and British schools. Although Brendan had extended family in the US, his arrival was “scary,” but he quickly applied himself to learning the language fluently and assimilating into the culture. As a child in Brooklyn and Queens, he made the most of available public resources by spending his summer breaks reading all the science books in the library. It was an intimation of things to come. In the US, he went through the public education system, including Stuyvesant High School. He went on to graduate summa cum laude in the BS/MD program at Brooklyn College and summa cum laude in the MD/PhD program of the State University of New York Downstate Medical Center. I first met Brendan in late 1992 when he became the target of a program that Tom Caskey, Ralph Feigin, and I had developed, modeled after one we had used on Jim Lupski, to bring New York City’s best genetic athletes directly from medical school graduation to Baylor College of Medicine in Texas. When I saw Brendan’s publication record as a PhD candidate and as a brief postdoctoral fellow in the lab of Francisco Ramirez, I immediately perceived a problem. What does one do for an encore when your first publication is in Science as first author of a paper entitled “Identification of the Molecular Defect in a Family with Spondyloepiphyseal Dysplasia” in 1989? Worse yet, what about when another publication in 1991 is in Nature as first author of a paper entitled “Marfan Syndrome and a Phenotypically Related Disorder Are Linked to Two Different Fibrillin Genes”? Brendan was condemned to a career of constantly trying to outperform his own student success. From his first day as a pediatric resident, Brendan was hard at work performing faculty-level activities. Even as he was fast-tracking through pediatric and genetic residency, he was stealing time back in the lab. I was most fortunate that he spent 2 years in my lab, more as an independent faculty member than as a trainee, while starting up his own independent research programs. I fondly remember how we would often sit in my office at the end of the day to discuss anything and everything. I always felt that my day had been made better as I left feeling reinvigorated, upbeat, and enthusiastic about the future of human genetics. Today’s recognition is for “outstanding scientific achievements in human genetics that have occurred during the last 10 years.” Brendan has stayed true to his disease-gene-discovery roots, but he has also invested time and energy in the development of therapeutic modalities, an avenue that has been generally quite challenging for the human genetics discipline. He has made seminal gene, mechanistic, and clinical discoveries in the area of human skeletal dysplasias and urea cycle disorders. In 2006, Brendan led a team that made the discovery of a novel posttranslational modification complex required for a poorly understood chemical modification of fibrillar collagens, 3-prolyl-hydroxylation. This unleashed a series of discoveries of yet more recessive collagen genes. He has conducted a series of clinical trials using medications to improve the quality of life of patients with osteogenesis imperfecta. In the role of clinician caring for patients with urea cycle disorders, he was intrigued by the unexplained hypertension of patients with argininosuccinic aciduria, and he hypothesized that this defect led to secondary deficiency of arginine and hence nitric oxide production. Hopefully, he will tell you a bit about these discoveries. I cannot end without commenting on his leadership role in our department. He seems to be the Pied Piper of physician-scientist trainees in our environment. Also, given that I transitioned out of the role of department chair a couple of years ago, I cannot tell you how comforting and joyful it is to have someone with Brendan’s leadership and enthusiasm as a successor.