Kim L. McBride, MD, MS, and his lab are embarking on a new technique to create stem cells using human samples, called induced pluripotent stem cells. They will use this method to investigate the genetic variants they have identified in patients with congenital heart defects. Dr. McBride, principal investigator in the Center for Molecular and Human Genetics, hopes to differentiate these stem cells into various cardiac cell types to study the complex interplay of an individual’s genetic background with the disease-causing variant. This type of genetic study is innovative, in that traditional cell-based systems or animal models cannot provide such information.
McBride KL, Zender GA, Fitzgerald-Butt SM, Seagraves NJ, Fernbach SD, Zapata G, Lewin M, Towbin JA, Belmont JW. Association of common variants in ERBB4 with congenital left ventricular outflow tract obstruction defects. Birth Defects Res A Clin Mol Teratol. 2011 Mar;91(3):162-8. doi: 10.1002/bdra.20764.
Riley MF, McBride KL, Cole SE. NOTCH1 missense alleles associated with left ventricular outflow tract defects exhibit impaired receptor processing and defective EMT. Biochim Biophys Acta. 2011 Jan;1812(1):121-9.
Contact: Kim McBride, Center for Molecular and Human Genetics