The Epidemiology of Hereditary Blood Disorders and the Genetics of Hemophilia A and B
This presentation explained various types of hereditary blood disorders and the role of genetics in the epidemiology of hereditary blood disorders. Additionally, this session discussed gene sequencing, gene mutations and their role in the development of hemophilia. This presentation described the physiology, inheritance, and demographics of bleeding and clotting disorders and presented CDC-led public health efforts to improve quality of life for individuals living with these disorders. The Science Ambassadors were also able to learn about how gene mutation identification and gene mutation analysis occurs in laboratories.
Nicole F. Dowling, PhD
Dr. Dowling received her undergraduate degree in physical anthropology from Harvard University in 1988 and her PhD in Epidemiology from Emory University, Rollins School of Public Health, in 2001. As the focus of her dissertation work, she initiated, developed, and directed a large Emory-Centers for Disease Control and Prevention (CDC) collaborative study of genetic risk factors for venous thrombosis, the Genetic Attributes and Thrombosis Epidemiology (GATE) Study. Dr. Dowling joined CDC in 2000, as an epidemiologist with the Hematologic Diseases Branch (now the Division of Hereditary Blood Disorders) and as CDC lead investigator for the GATE study. Within the Division, Dr. Dowling in the lead epidemiologist for studies of thrombosis and thrombophilia and for the Hemostasis and Thrombosis Pilot sites program. Most recently, she has assumed responsibilities directing the research program of inherited bleeding disorders in women, including an ongoing, multi-site treatment and management trial. Dr. Dowling is the acting team leader for the Epidemiology and Surveillance Team, Division of Hereditary Blood Disorders, and is Adjunct Assistant Professor in the Department of Epidemiology at Emory University. Her interests include treatment, management, and quality of life assessments for persons with bleeding and clotting disorders; statistical evaluations of genetic associations with thrombotic disease; and integration of genetics into public health. Dr. Dowling is a member of the Society of Epidemiologic Research and of the National Heart, Lung, and Blood Institute, National Institute of Health, Working Group on Women with Bleeding Disorders.
Vanessa R. Byams, MPH
Vanessa R. Byams received her undergraduate degree in Sociology from Emory University in 1999 and continued on to earn her masters degree in public health from Boston University in 2001. Ms. Byams joined CDC in 2001 as an Association of Schools of Public Health (ASPH) fellow with the Hematologic Diseases Branch (now the Division of Hereditary Blood Disorders). She acted as a project coordinator for one site of a multi-site epidemiological study entitled Treatment and Management of Women with Bleeding Disorders. Her responsibilities included an active leadership role in coordination and management of daily tasks, recruiting and screening study participants, data collection, and data analysis. In 2003, she assumed the role of project manager for the multi-site study and currently coordinates the recruitment and enrollment efforts of the six study sites. Ms. Byams continues to collect and compile study data, perform various analyses, and act as a consultant to collaborators. In addition, she serves as the project manager for a study to determine the prevalence of von Willebrand’s disease among Hispanic women in Texas. Her interests include evaluating quality of life, women’s health issues, and health disparities.
Stacy C. League
Stacy C. League, B.A. is a Research Biologist at the Centers for Disease Control and Prevention, National Center on Birth Defects and Developmental Disabilities. Prior to joining the Division of Hereditary Blood Disorders, she performed hematology research at the City of Hope National Medical Center and the Mayo Clinic, focusing on the genetics of hemophilias A and B and venous thromboembolism. Her current work also includes the study of platelets in women with bleeding disorders, the measurement of inflammatory cytokines as related to cardiovascular disease, whole gene sequencing of candidate genes for involvement in myocardial infarction, and genotyping of polymorphisms associated with bleeding disorders, myocardial infarction, and venous thromboembolism. Additionally, she is involved with an ongoing project to screen hemophilia and thalassemia patients for exposure to West Nile Virus.
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