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Charlotte Hobbs, MD, PhD

Research Overview

Dr. Hobbs is the Director of the Arkansas Center for Birth Defects Research and Prevention and the recipient of the Pamela Stephens Endowed Chair for Birth Defects Research. Established in 1997, the mission of the Arkansas Center is to reduce the prevalence of birth defects and decrease the economic, social, and psychological impact. The Arkansas Reproductive Health Monitoring System (ARHMS), a nationally acclaimed birth defects surveillance system, is an integral part of the Arkansas Center.

Dr. Hobbs’ research activities are primarily in the following three areas:

(1) The National Birth Defects Prevention Study (NBDPS): The purpose of the NBDPS, funded by the Centers for Disease Control and Prevention (CDC), is to collect information about environmental and genetic risk factors for 30 structural birth defects. As of the spring of 2006, over 3,000 Arkansas families have participated in the NBDPS. Dr. Hobbs has been the Principal Investigator of this study since 1997.

(2) Folate Metabolism and Birth Defects: Funded by the National Institute for Child Health and Human Development since 2000, this local study investigates nutritional, lifestyle, and metabolic factors that affect the fetal environment. Using maternal interviews and DNA collected from infants affected by congenital heart and neural tube defects and from their parents, a greater understanding of the underlying mechanisms causing these defects is being investigated.

(3) Down syndrome: The prevalence of Down syndrome in Arkansas is about 12 per 10,000 live births. The Arkansas Center was a participant in the National Down Syndrome Project, led by researchers at Emory University in Atlanta, Georgia. This National Institute for Child Health and Human Development-funded study recruited children affected by Down syndrome and their parents to complete a parental interview related to dietary, environmental, and other pregnancy exposures. Maternal interviews and DNA samples will aid in the understanding of the etiology of Down syndrome and health problems of affected children.

(4) National Children’s Study: Dr. Hobbs is the Principal Investigator of the Arkansas Center of the National Children’s Study Center. The National Children’s Study will follow a nationally representative sample of 100,000 children from before birth to age 21. Study volunteers will be recruited from populations living in randomly selected counties throughout the United States. Benton County is the only county in Arkansas from which participants will be enrolled. Dr. Hobbs and Dr. James Robbins will lead a team responsible for enrolling 1,000 infants and their parents from Benton County. The study will identify environmental, lifestyle, and biological factors associated with multiple health outcomes, including prematurity and birth defects, autism, asthma, obesity, and injuries. This project has been funded in whole with federal funds from the Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Department of Health and Human Services, under Contract No. HHSN275200800026C.

Key Publications

Hobbs CA , Sherman SL, Yi P , Hopkins SE, Torfs CP, Hine RJ, Pogribna M, Rozen R, James SJ. Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome. Am J Hum Genet. 2000; 67:623-630.

Hobbs CA , Cleves MA, Lauer RM, Burns TL, James SJ. Preferential transmission of the MTHFR 677 T allele to infants with Down syndrome: Implications for a survival advantage. Am J Med Genet. 2002; 113:9-14

Hobbs CA , Cleves MA,Melnyk S, Zhao W, James SJ. Congenital heart defects and abnormal maternal biomarkers of methionine/homocysteine metabolism. Am J Clin Nutr. 2005; 81:147-153.

Hobbs CA, James SJ, Parsian A, Krakowiak P, Jernigan S, Greenhaw J, Lu Y, Cleves MA. Congenital heart defects and variants in the methylenetetrahydrofolate reductase gene. J Med Genet. 2006; 47:683-685.

Hobbs CA, Cleves MA, Melnyk S, Zhao W, James SJ. Congenital heart defects and abnormal biomarkers of oxidative stress. Am J Clin Nutr. 2005; 82:598-604.

Hobbs CA, James SJ, Jernigan SL, Melnyk S, Lu Y, Malik S, Cleves MA. Congenital heart defects, maternal homocysteine, smoking, and the 677 C>T polymorphism in the methylenetetrahydroflate reductase gene: Evaluating gene-environment interactions Am J Obstet Gynecol. 2006;194: 218-224 .

*To find publications by this author, please visit Pubmed Central, a National Institutes of Health-operated site for electronic distribution of life sciences research reports.

Research Support

Principal Investigator: Genes, Micronutrients and Homeobox-related Malformations National Institute for Child Health and Human Development

Principal Investigator: Cooperative Agreement to Establish Centers of Excellence to Provide Surveillance Research Services and Evaluation Aimed at Prevention of Birth Defects, Centers for Disease Control and Prevention

Principal Investigator: Reproductive Health Monitoring Grant, State of Arkansas Appropriations, House Bill 1316

Principal Investigator: National Children’s Study Arkansas Site, National Institute for Child Health and Human Development


Arkansas Center for Birth Defects Research and Prevention
13 Children's Way, Mail Slot 512-40
Little Rock, Arkansas 72204
1-877-662-4567 toll free