Laura S. Schmidt, Ph.D.
Dr. Schmidt's research focuses on the identification of renal cancer susceptibility genes through study of families with inherited renal carcinoma. She contributed as a member of NCI research teams to the cloning of the von Hippel Lindau (VHL) tumor suppressor gene, identification of germline MET mutations in patients with hereditary papillary renal carcinoma, and discovery of germline mutations in a novel tumor suppressor, FLCN, that predispose to Birt-Hogg-Dubé syndrome. Her current research includes FLCN functional studies, and development of mouse models of renal cancer. Dr. Schmidt is participating in recruitment of additional renal cancer families to facilitate the identification of novel renal cancer-causing genes through next-generation sequencing and genomics approaches
1) inherited renal cancer syndromes, 2) animal models of human cancer, 3) Birt-Hogg-Dubé syndrome, 4) cancer genetics, 5) kidney cancer
The Urologic Oncology Branch (UOB) at the National Cancer Institute (NCI) is dedicated to improving the management and clinical outcome of patients with genitourinary malignancies. A major research effort in UOB is dedicated to the identification of renal cancer susceptibility genes and the pathways in which they interact to facilitate the development of effective targeted therapies for treatment of renal cancer patients. Studies of families with inherited renal cancer syndromes have provided the foundation for renal cancer gene discovery. As part of NCI research teams in the Laboratory of Immunobiology and the UOB, Dr. Schmidt has contributed to the discovery of the clear-cell renal cancer gene VHL, activating germline MET mutations in hereditary papillary renal carcinoma, and germline FLCN mutations that cause Birt-Hogg-Dubé syndrome.
Dr. Schmidt ‘s current research aims include investigating FLCN function in normal cells and elucidating mechanisms of tumorigenesis in FLCN-deficient kidney tumors using FLCN knockout mouse models. With colleagues at the NCI, she is involved in research efforts to identify novel genetic alterations that predispose to familial renal cancer using next- generation sequencing approaches.
Selected Key Publications
- Nature. 499: 43-9, 2013. [ Journal Article ]
- Mol. Cancer Res. 11: 1061-71, 2013. [ Journal Article ]
- Nat Rev Urol. 7: 277-85, 2010. [ Journal Article ]
Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubé syndrome.Cancer Cell. 2: 157-64, 2002. [ Journal Article ]
Germline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal carcinomas.Nat Genet. 16: 68-73, 1997. [ Journal Article ]
Dr. Schmidt received her Ph.D. degree in biochemistry from Vanderbilt University, trained as a postdoctoral fellow at Indiana University and Boston College, and was a Medical Foundation scholar at Tufts University Medical School in the laboratory of Dr. James T. Park. Dr. Schmidt initially joined NCI’s Laboratory of Immunobiology, headed by Dr. Berton Zbar, in 1990 as part of a Human Genome Project team that helped develop a chromosome 3 genetic marker map and cloned the von Hippel Lindau (VHL) tumor suppressor gene. She continued to work in renal cancer gene discovery, transitioning to the Urologic Oncology Branch following Dr. Zbar’s retirement in 2005. Her research over the past 25 years has focused on the identification of renal cancer susceptibility genes through the study of families with inherited renal cancer.
|Amy James B.S.||Animal Technician (Contr.)|
|Nicole Morris M.S.||Animal Technician (Contr.)|