James R. Lupski
The information listed below is current as of the date the transcript was finalized.
Abstract of Interview
James R. Lupski was born and raised on Long Island, New York, one of eight children. He attended a Roman Catholic elementary school but a public high school. Lupski and three of his siblings manifested, at different times and to different degrees, Charcot-Marie-Tooth disease (CMT); James's disease was serious enough to require several surgeries when he was in high school, surgeries that kept him at home for much of his high school years. He became interested in his disease and in genetics and decided he wanted to become a doctor. He also became a professional chess player. He won a full scholarship to New York University (NYU), where he majored in chemistry and biology and minored in mathematics and psychology. In David Schuster's laboratory he tried to isolate brain receptors; and during his summers he worked at Cold Spring Harbor Laboratory, learning to clone genes. Accepted early to NYU Medical School, Lupski then won acceptance to the MD/PhD program. He wrote his doctoral thesis on the macromolecular synthesis operon. The discovery of the gene associated with Huntington's disease inspired him to search for the CMT disease gene. He was courted by Baylor College of Medicine, where he was given a faculty appointment while he was still an intern. At Baylor he set up his own lab and began his research into the genetics of CMT, studying a large family in Louisiana. Lupski eventually patented a diagnostic test for CMT and continues his research on the disease. Lupski continues to teach, to manage his lab, to publish, to consult for private industry, to take out patents, and to balance work and family life with his wife and two daughters.
|1979||New York University||BA|
|1984||New York University||PhD|
|1985||New York University||MD|
New York University Medical Center
Baylor College of Medicine
Inducted into the Hicksville Hall of Fame
Young Investigator Award, American Society for Microbiology Interscience Conference on Antimicrobial Agents and Chemotherapy
Young Investigator of the Year Award, Abbott Laboratories
|1990 to 1994||
Pew Scholar in the Biomedical Sciences
Young Investigator Award, American Federation for ClinicalResearch Southern Section
Distinguished Research Award for Outstanding Contributions to the Understanding of the Genetics of Charcot-Marie-Tooth Disorders, Charcot-Marie-Tooth Association
Outstanding Alumni Award, Alpha Omega Alpha, New York University School of Medicine
Table of Contents
Born and raised on Long Island, New York. One of eight children. Roman Catholic elementary school. He and three siblings contract Charcot-Marie-Tooth (CMT) disease, so he becomes interested in genetics and decides to become a physician. Attends public high school. Takes up chess, becomes professional. Several surgeries for CMT disease while in high school.
Full scholarship at New York University (NYU). Majors in chemistry and biology; minors in mathematics and psychology. Works as laboratory technician. Trying to isolate brain receptors in the David Schuster laboratory. Spends two summers at Cold Spring Harbor Laboratory, learning the new gene cloning technology.
Early acceptance to NYU Postgraduate Medical School; subsequent acceptance to M.D./Ph.D. program. Works in G. Nigel Godson's lab. Godson's sabbatical in the Frederick Sanger lab investigating the initiation of DNA replication and G4 phage. Cloning the dnaG gene. Writes his doctoral thesis on the macromolecular synthesis operon. The drudgery of medical school. James R. Gusella's discovery of the Huntington's disease gene inspires. Lupski to search for the CMT disease gene.
Begins medical internship at Baylor College of Medicine. Residency at Baylor College of Medicine. Attempts to publish his research on CMT disease, but is rejected at first; politics of journal acceptance. Clinical reinforcement and inspiration for research. Ralph D. Feigin offers Lupski an accelerated residency.
Investigates the genetics of CMT in a large family in Louisiana. Confusing results lead to the discovery that CMT can be caused by a duplication of a gene rather than a mutation. How scientific breakthroughs come to be generally accepted. Tendencyfor important scientific discoveries to be made simultaneously by several labs. Impact of the new recombinant DNA technology and clinical applications. Patents a diagnostic test for CMT. Clinical implications of Lupski's CMT findings. Lupski's current research on CMT. Teaching responsibilities. Managing laboratory personnel.
Whether ethics should be taught in medical and graduate schools. Gender balance in M.D./Ph.D. programs. Making time for both family and career. Learning to write papers and grant proposals. Dealing with competitors. Differences between the fields of bacterial genetics and human genetics. The worldwide threat of bacterial disease.