Elizabeth M. Rohlfs, PhD

1999 Outstanding Scientific Achievements by a Young Investigator

Elizabeth Rohlfs, PhD, will receive the 24th annual award, sponsored by Boehringer Mannheim Corp. Dr. Rohlfs is the Associate Director of the Molecular Genetics Laboratory at The University of North Carolina Hospitals and Clinical Assistant Professor in the Department of Pathology and Laboratory Medicine at the University of North Carolina at Chapel Hill.

Dr. Rohlfs received her BA cum laude from Connecticut College where she majored in Zoology. She received her PhD in Pathology from Boston University under the direction of Dr. Steven Zeisel; during her time at Boston University, she was awarded a Boston University Graduate Student Research Award (1990). For her doctoral dissertation, Dr. Rohlfs studied the signal transduction pathways involved in lipid and protein secretion from breast epithelial cells. Dr. Rohlfs completed a postdoctoral fellowship at Duke University under the direction of Dr. Sheila Collins in the area of molecular pharmacology. While at Duke, she studied the regulation of uncoupling protein gene expression by stimulation of ß-adrenergic receptors in brown adipose tissue. From there, Dr. Rohlfs entered the Clinical Chemistry fellowship program at the University of North Carolina (UNC) and began work with Dr. John Chapman, conducting an analytical and clinical evaluation of refractive index-matched anomalous diffraction (RIMAD) and its ability to predict fetal lung maturity. In the second year of her Clinical Chemistry fellowship, she was accepted into the American Board of Medical Genetics certified Clinical Molecular Genetics training program at UNC. Under the direction of Dr. Lawrence Silverman, Dr. Rohlfs developed and evaluated protein truncation analysis and allele-specific assays for the detection of disease-causing mutations in the breast and ovarian cancer genes, BRCA1 and BRCA2. Because of this work, breast cancer susceptibility testing is now offered at UNC as part of the Multidisciplinary Breast Clinic.

As Associate Director of the Molecular Genetics Laboratory, Dr. Rohlfs continues to supervise the clinical testing and development of other cancer genetics testing. She also has an active research project investigating genetic mechanisms that produce mutations in BRCA1 in both high-risk families and in population-based cases of breast cancer. This has led to the identification of novel homologous recombination events in BRCA1 that produce large genomic rearrangements, which account for a significant proportion of the mutation spectrum in BRCA1. For her work in this area of breast cancer research, Dr. Rohlfs has received the AACC Student Research Award (1996), the Paul E. Strandjord Young Investigator Award from the Academy of Clinical Laboratory Physicians and Scientists (1996), a Junior Faculty Development Award from UNC (1997), and the AACC Van Slyke Research Award (1998). Dr. Rohlfs has given presentations at local and national meetings and has numerous peer-reviewed publications and co-authored book chapters. She is an active member of the AACC and a member of the Molecular Pathology Division.