bethdavidson10@gmail.com
Mentor: Jeffrey Murray, M.D.
Lab Room: 2182 ML
Lab Phone: 319-335-6740

Molecular events that result in craniofacial anomalies, particularly nonsyndromic cleft lip/palate

Cleft lip and palate is a craniofacial birth defect affecting 1/700 births worldwide. Cleft lip and palate can occur as part of a syndrome of birth defects but as many as 70% of clefts are isolated, or nonsyndromic, without any features of an other syndrome involving clefting. My primary focus is on the molecular events that result in craniofacial abnormalities using both genetic and functional approaches to study human clefting. Our lab has recently demonstrated the role for the fibroblast growth factor genes and receptors in cleft lip and palate my project will be to explore the molecular events associated with recently identified mutations in the FGFR2 gene. The FGFR2 gene has been recently shown to play a role in breast cancer predisposition and our collaborators in Denmark have shown in the last few years that clefting and breast cancer share an epidemiologic connection as well. Currently, I am looking for evidence of functional mutations in FGFR2 that might underlie clefting and also exploring the role of those same variants in breast cancer. The breast cancer connection with clefting is particularly important in the clinical care of patients born with cleft lip and palate as they are surviving well into adulthood beyond traditional follow-up of pediatricians.

Abstracts:

Association of Cleft Lip/Palate with Mutations in FGFR2 Found in Breast Cancer Patients. Beth N Erickson; Kaare Christensen; Mary L. Marazita; Jeffrey C Murray. Poster at Society of Craniofacial Genetics Meeting. Philadelphia, PA. November 11 2008.

Association of Cleft Lip/Palate with Mutations in FGFR2 Found in Breast Cancer Patients. Beth N Erickson; Kaare Christensen; Mary L. Marazita; Jeffrey C Murray. Poster at National American Society of Human Genetics Meeting. Philadelphia, PA. November 13 2008.

Association of Cleft Lip/Palate with Mutations in FGFR2 Found in Breast Cancer Patients. Beth N Erickson; Kaare Christensen; Mary L. Marazita; Jeffrey C Murray. Poster at Midwest Breast Cancer Research Symposium. Iowa City, IA. July 17 2009.

Variation in FGFR2 Expression Correlates with Genotype at SNPs Associated with Nonsyndromic Cleft Lip/Palate and Breast Cancer Beth N. Erickson; Jinsil Kim; Kaare Christensen; Mary L. Marazita; Jeffrey C. Murray. Poster at Society of Craniofacial Genetics Meeting. Honolulu, HI. October 20 2009.

Variation in FGFR2 Expression Correlates with Genotype at SNPs Associated with Nonsyndromic Cleft Lip/Palate and Breast Cancer Beth N. Erickson; Jinsil Kim; Kaare Christensen; Mary L. Marazita; Jeffrey C. Murray. Poster at National American Society of Human Genetics Meeting. Honolulu, HI. October 21 2009.