Skip to main content

Kim M. Keppler-Noreuil, M.D.

Kim M. Keppler-Noreuil
Associate Investigator
Clinical Genomics Section

B.A. Grinnell College, Grinnell, IA, 1984
M.D. Southern Illinois University School of Medicine, 1989

T: (319) 310-1450
F: (301) 402-2170
Building 49, Room 4A68

Selected Publications

Dr. Keppler-Noreuil's clinical and research interests have been in genetics and dysmorphology. Her areas of research have included clinical delineation of multiple malformation syndromes, and studies of epidemiology and pathogenetic mechanisms of birth defects, and inherited and chromosomal disorders. As the Clinical Director of Birth Defects, Iowa Registry for Congenital & Inherited Disorders (IRCID) from 1997-2012, she oversaw cases ascertained by the IRCID, and contributed to the development of case classification guidelines for the National Birth Defect Prevention Study (NBDPS), a multicenter study of genetic and environmental risk factors of over 30 major birth defects, as well as being the reviewer/classifier for NBDPS cases. Her recent research involving the Centers for Birth Defects Research and Prevention (CBDRP) data have been descriptive, as well as genetics studies of cloacal exstrophy, Dandy-Walker malformation and hydrocephalus. Additional research interests include natural history and clinical characterization, genetic studies, and therapeutic interventions of somatic overgrowth disorders, including Proteus syndrome and PIK3CA-Related Overgrowth Spectrum (PROS) and other malformations and genetic disorders.

Dr. Keppler-Noreuil is also involved in teaching/mentoring in the Medical Genetics Residency Training Program and the Genetic Counseling Training Program, directing the resident conference, "Case Studies: Approach to Malformations & Morphogenesis" for the training program. She has served as chair of the Program Evaluation Committee, NHGRI/NIH and Medical Genetics Residency.

Among the awards Dr. Keppler-Noreuil has received are the Distinguished Alumni Award from Southern Illinois University School of Medicine, and the NIH Director's Award for the Rare Diseases Group, PIK3CA-Related Overgrowth project. She has served as chair of the Membership Committee for the American College of Medical Genetics, and on multiple committees within NHGRI, and previously at the University of Iowa Hospital and Clinics.


Dr. Keppler-Noreuil completed her B.A. in biology and french from Grinnell College in Grinnell, Iowa in 1984. She obtained honors in coursework at the Institute of European Studies in Paris, France in 1983. In 1989, she earned her M.D. from Southern Illinois University School of Medicine in Springfield, Illinois. She completed her pediatric residency at the Arkansas Children's Hospital, University of Arkansas for Medical Science in Little Rock, Arkansas in 1992, and her fellowship in Medical Genetics in the Department of Pediatrics, Laboratory of Medical Genetics at the University of Alabama at Birmingham in Birmingham, Alabama in 1995.

Dr. Keppler-Noreuil served as Instructor of Pediatrics and Medical Genetics at the University of Alabama at Birmingham until 1996, during which she received a Junior Faculty Development Award, completing a research project on the H19 tumor suppressor gene in Beckwith-Wiedemann syndrome in the Comprehensive Cancer Center. Dr. Keppler-Noreuil joined the faculty of the University of Iowa in the Department of Pediatrics and Division of Medical Genetics in 1996 until 2012, where she was promoted to the academic position of Professor of Pediatrics in 2008. At the University of Iowa, she was appointed as Clinical Director for Birth Defects for the Iowa Registry for Congenital and Inherited Disorders, and program director of the Medical Genetics Residency Training Program, Maternal-Fetal Medicine/Medical Genetics Training Program, Division of Medical Genetics. She also served as co-director of the Medical Genetics Course for first-year medical students. Dr. Keppler-Noreuil was recruited to the National Human Genome Research Institute in 2012.

Scientific Summary

Posted: January 24, 2017