Kotch, Lori Elaine, Ph.D.

Assistant Professor, Department of Pediatrics
B.A., State University of New York
Ph.D., University of North Carolina
Postdoc, Duke University Medical Center
Postdoc, The Johns Hopkins University
  
Main Interests:

My laboratory is focused on trying to identify cellular and molecular mechanisms/ pathogenesis for environmentally induced, and genetically based birth defects. In order to accomplish our research goals we generate animal models for human malformation syndromes using both teratogens and genetic manipulation. This allows us to study the interactive effects of environment and genes on the production of a variety of craniofacial malformations including cleft lip/palate, neural tube defects and holoprosencephaly. Our primary interest over the past several years has been to study the role of a number of genes in the production of alcohol-induced craniofacial malformations. The use of transgenic mice and mice with targeted gene modification has proven productive in our attempt to characterize some of the crucial molecules which become altered by alcohol exposure during early embryogenesis. Alteration in gene function disrupts critical stages of embryonic development, and the cellular and morphogenetic effects caused by these alterations are studied in my lab using scanning electron microscopy, confocal microscopy, and histological techniques. Having information concerning the precise genes involved, the cell populations targeted by these genes and resultant phenotype, allows us the bases for initiating in vitro studies (i.e. whole embryo culture, cell culture) focused on the identification of ameliorative and/or preventative measures relative to alcohol-induced birth defects. 
  
Research Interests:

• Embryonic gene-environment interactions
• Molecular bases for normal and abnormal craniofacial development
• Mechanisms for alcohol-induced teratogenesis
• Developmental Genetics 

Educational Activities:

Courses taught: Medical Embryology, Medical Gross Anatomy, Developmental Genetics
 
Recognition and Leadership Roles:

• Reviewer for Teratology Journal and Alcoholism: Clinical and Experimental Research
• Council Member for Basic Cardiovascular Sciences - American Heart Association 

Publications:

• Kotch LE, Sulik KK: Experimental fetal alcohol syndrome: Proposed pathogenic basis for a variety of associated facial and brain anomalies. Am J Med Genet 44:168-176 , 1992. Abstract
•  Kotch LE, Dehart DB, Alles AJ, Chernoff N, Sulik KK: Pathogenesis of ethanol-induced limb reduction defects in mice. Teratology 46:323-332 , 1992. Abstract
•  Kotch LE, Sulik KK: Patterns of ethanol-induced cell death in the developing nervous system of mice; Neural fold stages through the time of anterior neural tube closure. Int J Dev Neurosci 10:273-279, 1992. Abstract
• Kotch LE, Chen SY, Sulik KK: Ethanol-induced teratogenesis: free radical damage as a possible mechanism. Teratology, 52: 128-136 , 1995. Abstract
• Hunter ES, Kotch LE, Cephalo R, Sadler TW: Effects of cocaine administration during early organogenesis on prenatal development and postnatal growth in mice. Fundam Appl Toxicol 28 (2):177-186 , 1995. Abstract
• Iyer NV, Kotch LE, Agani F, Leung SW, Laughner E, Wegner R, Gassman M, Gearhart JD, Lawler AM, Yu AY, Semenza GL: Cellular and developmental control of O2 homeostasis by hypoxia-inducible factor 1 alpha. Genes Deve 12:149-162, 1998. Abstract
• Kotch LE, Iyer NV, Laughner E, Semenza GL: Defective vascularization of HIF-1alpha-null embryos is not associated with VEGF deficiency but with mesenchymal cell death. Deve Bio 209, 254-267, 1999.  Abstract

 Contact Information:

Lori Elaine Kotch, Ph.D.

Johns Hopkins University School of Medicine
Institute of Genetic Medicine
733 N Broadway
Broadway Rsearch Building, 409
Baltimore, MD 21287
Phone: (443) 287-3505
Fax: (410) 955-0484
E-Mail: lkotch@jhmi.edu