Bradford W. Coffee, Ph.D., F.A.C.M.G
Assistant Professor
bcoffee@genetics.emory.edu
Department of Human Genetics
Emory University School of Medicine
615 Michael Street, Room 305A
Atlanta, GA 30322

PubMed search for Dr. Bradford W. Coffee

Areas of Specialization/Research Interests:
Epigenetics
Fragile X syndrome
Autism
Newborn screening

Education:
2003-2005     ABMG Clinical Molecular Genetics Training Program, Emory University, Atlanta, GA
1998-2003     Post-doctoral fellowship, Emory University, Atlanta, GA
1990-1997     Ph.D., Molecular Biology, University of North Carolina, Chapel Hill, NC

Research Description:
Aberrant changes of epigenetic modifications, such as DNA methylation and histone modifications, can lead to changes in gene expression causing human disease.  My research is focused on understanding the role that epigenetics has in human diseases and translating what is learned in the basic research laboratory to clinical practice.  The primary focus of my work has been the development of a high-throughput population screen for fragile X syndrome and sex chromosome aneuploidies based on quantitative assessment of DNA methylation of the FMR1 gene.  I am using a high-throughput real-time methylation sensitive PCR assay that detects and quantifies FMR1 DNA methylation to screen a large cohort of newborns to accurately determine the incidence of fragile X syndrome in the general population.  In addition, I have an interest in other epigenetic diseases, such as Beckwith-Wiedemann (BWS) and Russell-Silver (RSS) syndromes, which are associated with alterations in growth and are caused by epigenetic changes at 11p15.  I have developed a novel assay to assess DNA methylation at Lit1 and H19 to at 11p15 to clinically test for these two conditions.  Finally, I am interested in the role that epigenetics has in autism.   There is a growing body of evidence to suggest that aberrant epigenetic changes, with or without an underlying genetic defect, could cause changes in gene expression leading to diseases such as autism.  Working with others in the department, I am developing high-throughput DNA methylation assays, focusing on the X chromosome, to identify epigenetic alterations associated with autism.

Selected Publications:
Coffee, B., Muralidharan, K., Highsmith, W.E., Lapunzina, P. & Warren, ST.  (2006) Molecular Diagnosis of Beckwith-Wiedemann Syndrome Using Quantitative Methyl Sensitive PCR. Genet. Med. 8:628-634.

Coffee, B., Hjelm, L.N., Delorenzo, A., Courtney, E.M., Yu, C., Muralidharan, K. (2006). Characterization of an Unusual Deletion of the Galactose-1-Phosphate Uridyl Transferase (GALT) Gene. Genet. Med. 8:635-640.

Smith, K., Coffee, B., & Reines, D. (2004) Occupancy and Synergistic Activation of the FMR1 Promoter by NRF-1 and SP1 in vivo. Hum. Mol. Genet. 13: 1611-1621.

Coffee, B. Zhang, F.P. Warren, S.T. & Reines, D. (2002) Histone Modifications Depict an Aberrantly Heterochromatinized Gene in Fragile X Syndrome. Am. J. Hum. Genet. 71: 923-932.

Coffee, B. Zhang, F.P. Warren, S.T. & Reines, D. (1999) Acetylated Histones are Associated with FMR1 in Normal but not Fragile X-Syndrome Cells. Nat. Genet. 22: 98-101.