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Good afternoon!
I am here to introduce my friend and colleague, James R. Lupski, from Baylor College of Medicine (BCM), as this year’s recipient of the Victor A. McKusick Leadership Award.
First, let me say that I had the great good fortune of working with Victor McKusick for nearly 40 years; I am completely confident that Victor is thrilled with this year’s choice of Jim as the recipient of Victor’s eponymous award, which is given to an individual whose enduring leadership and vision ensures that human genetics will flourish and inform science and medicine—simply put, to make medicine and biology the best they can be!
Jim was born and raised in Hicksville, NY, and was one of eight children. Although not far from NYC, Hicksville was pretty rural. Jim’s father was an electrician and, in addition to his genes, passed down many pungent sayings that Jim has shared with me, much to my enjoyment and benefit.
I should also point out that it is likely that Jim is the only one among the thousands of us here at the ASHG meeting who has been voted into the Hicksville Hall of Fame, an honor he shares with the singer Billy Joel!
As a boy, Jim, stimulated by his family’s problem with what we now know to be a form of Charcot-Marie-Tooth (CMT) disease, became interested in genetics. This led him to fortuitous interactions with James Watson and Barbara McClintock at Cold Spring Harbor Lab (CSHL) and to experiences as a summer student at the lab in the late 1970s. In 1975, Jim began his undergraduate education at NYU (New York University), graduating in 1979 with a BS in chemistry and biology. He stayed on at NYU for his medical education and completed his MD and PhD in 1985. His PhD thesis, performed in the lab of Nigel Godson, concerned prokaryotic genetics and solved a problem in E. coli gene regulation. Images from this stage of Jim’s career show how much he enjoyed the camaraderie of the lab and the thrill of new discoveries.
In 1986, Jim began his now more-than-30-year association with BCM, first as a pediatric resident, then as a medical genetics fellow. In 1992, he joined the full time Baylor faculty in the Department of Molecular and Human Genetics. In the short space of three years, he became the Cullen Professor, a position he continues to hold.
Most of you know something about Jim’s prodigious research accomplishments. He was, after all, the recipient of our Society’s Curt Stern award in 2002 for outstanding, early-career research accomplishments in recognizing and defining genomic disorders. He has made seminal research contributions in many areas, including DNA repair, copy number variants, genomic disorders, clan genomics, the genetic architecture of complex traits, and the delineation of the genes involved in and the mechanisms of Mendelian disease.
Perhaps less well known are Jim’s amazing contributions in the areas of education and training. He is an exemplary physician-scientist, and from 1993 to 2006, he was the director of the BCM MD/PhD program. He has taught extensively, not only in his own institution, but also at courses and conferences around the world, including the Jackson Lab, the Sanger Institute, the Italian Short Course, and many places more remote. In total, he has given more than 525 lectures in 37 countries. His students revere him; he has a rare ability to both stimulate and support his trainees, much to their benefit.
Jim has also been an amazing leader in promoting medical genomics and its values for medicine and human biology. His own genome was one of the first to be sequenced. A story on the front page of the New York Times in 2010 described sequencing his genome. This effort yielded the explanation for the particular version of CMT disease that has challenged him and members of his family for more than three generations. In addition to providing useful medical information, Jim’s efforts in this regard have served as a role model for others with rare genetic disorders and emphasized the value of sharing genomic information.
Lastly, over the last seven years, Jim and I have been co-PIs (principal investigators) at the Baylor-Hopkins Center for Mendelian Genomics (BHCMG), one of four National Human Genome Research Institute (NHGRI)-funded Centers of Mendelian Genomics. We have worked together with our teams to achieve the ambitious goal of identifying Mendelian phenotypes for every gene in the human genome. We still have a way to go on this effort, but this close partnership has given me the opportunity to see Jim in action, “up close and personal,” as they say. He is bright, deeply knowledgeable, tenacious, competitive, warm-hearted, audacious, unbelievably industrious, and delightfully irreverent: a great colleague! For all these reasons I am thrilled to be able to introduce the 2018 McKusick Leadership awardee, Jim Lupski.