Human Genetics

Nancy Doan Leslie, MD

Title

Director, Biochemical Genetics Laboratory

Appointment

Assistant Professor of Clinical Pediatrics, University of Cincinnati College of Medicine

Email

nancy.leslie@cchmc.org

Phone

513-636-7357

Fax

513-636-7297

Credentials

MD: Washington University, St. Louis, MO, 1975 to 1979.

Internship and Residency: Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH.

Fellowship: Pediatric Endocrinology, Cincinnati Children's Hospital Medical Center,OH, 1982 to 1985; Clinical Genetics and Clinical Biochemical Genetics, Cincinnati Children's Hospital Medical Center, OH, 1993 to 1995.

Certification: American Board of Pediatrics, 1986; American Board of Pediatrics, Sub-Board of Pediatric Endocrinology, 1989; American Board of Medical Genetics, Board-Certified in Clinical Genetics and Clinical Biochemical Genetics, 1996.

Awards and Honors

Best Doctors in America, 2008

Research

Focus on inborn errors of metabolism, with an emphasis on long term outcome in PKU and in the molecular biology of galactosemia

Research Grants and Contracts

A randomized, open-label study to assess the safety and tolerability of multiple dose levels and multiple dosing regimens of AT2101 in adult patients with type 1 Gaucher disease currently receiving therapy. Amicus Therapeutics GAU-CL-201, Principal Investigator, CCHMC IRB Protocol #07-05-06.

Response to chaperone therapy in ERT naïve Gaucher patients. An Open-Label Extension Study of Patients with Late-Onset Pompe Disease who were Previously Enrolled in Protocol AGLU-2704. Genzyme Corporation AGLU-3206, Sub-Investigator, CCHMC IRB Protocol #07-1-36.

A Multicenter, Randomized, Double-Blind, Parallel Group, Two-Dose Study of Gene-Activated Human Glucocerebrosidase (GA-GCB) Enzyme Replacement Therapy in Patients with Type 1 Gaucher Disease. Shire Human Genetic Therapies, Inc. (Shire HGT) TKT-032, Sub-Investigator.

A Multicenter, Open-Label Study of Gene Activated Human Glucocerebrosidase (GA-GCB) Enzyme Replacement Therapy in Patients with Type 1 Gaucher Disease Previously Treated with Imiglucerase. Shire Human Genetic Therapies, Inc. (Shire HGT) TKT-034, Sub-Investigator, CCHMC IRB Protocol #07-01-10.

Industry sponsored, January 1, 2004 - January 1, 2008, Genzyme Center, Principal Investigator, Pompe registry

Industry sponsored, January 1, 2004 - January 1, 2008, Genzyme Center, Principal Investigator, MPS I registry

CDC Cooperative Agreement, November 1, 2004 - October 31, 2008, Newborn screening for Duchenne Muscular Dystrophy, Co-Investigator

Publications, Most Recent

Halperin, J., Devi, SY, Elizure, S, Stocco, C, Shehu, A, Rebourcet, D, Unterman, TG, Leslie, ND, Le, J, Binart N, Gibori, G. Prolactin signaling through the Short form of Its Receptor Represses Forkhead Transcription Factor FOXO3 and its Target Gene GALT Causing a Severe Ovarian Defect. Molecular Endocrinology 2008;22:513-22.

Leslie, ND. Inborn errors and Pediatric Critical Care. In Wheeler, D. ed. Pediatric Critical Care Medicine: Basic Science and Clinical Evidence. Springer 2007.

Tinkle, B and Leslie, N.D. Pompe Disease. Gene Clinics. 2007.

Grabowski, GA, Hopkin, RJ, Burrow, RA, Leslie, ND, Tinkle, BT. Enzyme Reconstitution/Replacement Therapy for Lysosomal Storage Diseases. Current Opinion in Pediatrics, 2007, 19: 628-35.

Kishnani, PS, Corzo, D., Nicolino, M, Byrne, B, Mandel, H, Hwu, W., Leslie, N., Levine, J, Spencer, C., McDonald, M., DuMontier, J, Michael, H, Chien, Y., Hopkin, R., Vijayaraghavan, S., Bruskin, D., Barholomew, D, van der Ploeg, A., Clancy, J., Prarin, R., Morin, G, Beck, N., Delagastine, G., Jokin, M., Thurberg, B., Richards, S., Bali, D., Davison, M., Worden, MA, Chen, YT, Wraith, JE. Recombinant Human Acid -Alpha Glucosidase: Major Clinical Benefits in Infantile-Onset Pompe Disease. Neurology, 2007;68(2): 99-109.

Wong, Lee-Jun C, Brunetti-Pierri, N, Zhagn, Q, Yazigi, N, Bove, KE, Dahms, B, Puchowics, MA, Gonzalez-Gomez, I, Schmitt, ES, Truong, CK, Hoppel, CL, Chou, P-C, Wang, J, Baldwin, EE, Adams, D, Leslie, N, Boles, RG, Kerr, DS, Craigen, WJ. Mutations in the MPV17 Gene are Responsible for Rapidly Progressive Liver Failure in Infancy. Hepatology 2007;46: 1218-27.

Kishnani, P.S., Hwu, W-H, Mandel, H., Nicolino, M., Yong, F., and Corzo, D. on behalf of the Infantile-onset disease natural history study group. A Retrospective, multinational, mulitcenter study on the natural history of Infantile-onset Pompe disease. J. Peds 2006: 148: 671-6.

Presentations, Most Recent

Leslie, E. , Gilbert, D., Keddache, M. Leslie, N. A novel autosomal dominant Hereditary Spastic Paraplegia with generalized dystonia: linkage to 2q34-2q31. Oct 2006, ASHG Annual Meeting, New Orleans, LA.