James R. Lupski

Born: February 22, 1957 | Hicksville, NY, US

James R. Lupski was born on Long Island, New York, and as a child developed Charcot-Marie-Tooth disease (CMT), which required several surgeries that kept him at home for much of high school. Based on his experiences, he decided to become a doctor. He won a scholarship to New York University (NYU) to study chemistry and biology. In David Schuster's laboratory he tried to isolate brain receptors; during summers he worked at Cold Spring Harbor Laboratory, learning to clone genes. After receiving an MD/PhD from NYU, he was given a faculty appointment at Baylor University, where he set up his own lab and began his research into the genetics of CMT. Lupski eventually patented a diagnostic test for CMT and continues his research on the disease. 

The information listed below is current as of the date the transcript was finalized.

			

Interview Details

Interview no.: Oral History 0485
No. of pages: 153
Minutes: 602

Interview Sessions

Andrea R. Maestrejuan
14-16 August 1995
Baylor College of Medicine, Houston, Texas

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. 

Education

Year Institution Degree Discipline
1979 New York University BA
1984 New York University PhD
1985 New York University MD

Professional Experience

New York University Medical Center

1985 to 1986
Research Assistant Professor

Baylor College of Medicine

1986 to 1989
Research Assistant Professor and Resident
1989 to 1992
Assistant Professor
1992 to 1995
Associate Professor
1995 to 1996
Cullen Professor of Molecular and Human Genetics and Professor of Pediatrics

Honors

Year(s) Award
1987

Inducted into the Hicksville Hall of Fame

1988

Young Investigator Award, American Society for Microbiology Interscience Conference on Antimicrobial Agents and Chemotherapy

1989

Young Investigator of the Year Award, Abbott Laboratories

1990 to 1994

Pew Scholar in the Biomedical Sciences

1991

Young Investigator Award, American Federation for ClinicalResearch Southern Section

1993

Distinguished Research Award for Outstanding Contributions to the Understanding of the Genetics of Charcot-Marie-Tooth Disorders, Charcot-Marie-Tooth Association

1994

Outstanding Alumni Award, Alpha Omega Alpha, New York University School of Medicine

Table of Contents

Early Years
1

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.

College Years
24

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.

Graduate Years
35

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.

Postgraduate Years
73

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.

Working Years
82

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.

General Ruminations
142

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.

Index
149

About the Interviewer

Andrea R. Maestrejuan