Surveillance, Epidemiology, Research
The Centers for Disease Control and Prevention (CDC) is engaged in research to identify genetic and acquired risk factors of DVT/PE by providing support for the Genetic Attributes of Thrombosis Epidemiology (GATE) Study, a cooperative agreement with Emory University’s Rollins School of Public Health. Researchers are using data from this study of more than 1,200 cases of DVT/PE in both African-Americans and whites to evaluate the effect of genetic variations on the risk of DVT/PE.
CDC also supports the Thrombosis and Hemostasis Centers Research and Prevention Network to foster collaborative epidemiologic research designed to identify risks among the U.S. population and ultimately to improve diagnosis and treatment of these conditions. Funded centers have collected data on more than 6,000 patients of all ages and races while providing services to patients with DVT/PE and other thrombotic conditions. In addition to maintaining the patient registry, centers are initiating a biologic repository and new research protocols to further study the causes of and adverse outcomes for DVT/PE.
CDC is exploring methods and working toward developing public health surveillance activities for DVT/PE. These activities will not only help to quantify the burden of DVT/PE but also help to better understand where to focus research and target prevention measures while also providing a much-needed baseline upon which to assess the effectiveness of prevention efforts.
Health Education and Health Literacy
DVT/PE is preventable. It is important for people to be able to recognize the signs and symptoms, know when to seek care, and know what treatment is available. Individuals, families, and their support communities can reduce their risk by understanding DVT/PE and its risk factors. Health care professionals have a critical role to play in preventing and reducing the burden of DVT/PE, as well. Although much is known about effective prevention and treatment, this evidence is not applied systematically in many health care settings. There is a need for greater awareness and education among health care professionals about the prevention, recognition, and treatment of DVT/PE.
CDC supports education and outreach activities at both the community and national levels to provide health promotion and wellness programs for people at risk for or affected by clotting disorders. Working with the National Blood Clot Alliance, CDC has funded a health promotion and wellness initiative called “Stop the Clot” that develops and disseminates health information for people who have been affected by DVT/PE. The program conducts community education forums on clotting, sponsors a website with resources and information for the public, and has established support groups for people who have experienced DVT/PE. Additionally, CDC and the National Blood Clot Alliance have developed an online training program on the basics of DVT/PE for non-physician health care professionals.
In 2010, CDC helped launch “This is Serious,” a campaign to encourage women to be alert to DVT/PE symptoms, and to talk to their doctors about their risks. This campaign was developed through a cooperative agreement with the Vascular Disease Foundation and in collaboration with the Spirit of Women hospital network, a national innovator of programs and events on women’s health.
Laboratory Support and Capacity
CDC is enhancing laboratory research capacity by providing collaborating investigators with services such as subject matter expertise, technical support, and laboratory analysis. In the study of DVT/PE, CDC scientists use state-of-the-art laboratory methods such as gene sequencing and whole-genome scans to identify new genes that may be specifically associated with clotting, or genes associated with the risk factors (e.g., the role of inflammation, or other medical conditions) for clotting.
CDC’s DVT/PE research activities include the following:
- Conducting basic science and clinical research to define, determine the causes and complications of, diagnose, and prevent the complications of DVT/PE.
- Conducting studies to evaluate, improve, and standardize methods and procedures for classifying DVT/PE.
- Providing diagnostic support for research studies on emerging diseases or conditions associated with DVT/PE.
- Maintaining the national reference laboratory for coagulation disorders.
A chromosome contains a single, long piece of DNA with many different genes. Every human cell contains 23 pairs of chromosomes. There are 22 pairs of numbered chromosomes, called autosomes, and one pair of sex chromosomes, which can be XX or XY. Each pair contains two chromosomes, one from each parent, which means that children get half of their chromosomes from their mother and half from their father.
A gene is a part of DNA that carries the information needed to make a protein. People inherit one copy of each gene from their mother and one copy from their father. The genes that a person inherits from his or her parents can determine many things. For example, genes affect what a person will look like and whether the person might have certain diseases.
DNA is made up of two strands that wind around each other and looks like a twisting ladder. A DNA strand is made up of four different “bases” arranged in different orders. These bases are T (thymine), A (adenine), C (cytosine), and G (guanine). DNA is “read” by the order of the bases, that is by the order of the Ts, Cs, Gs, and As. The specific order, or sequence, of these bases determines the exact information carried in each gene (for example, instructions for making a specific protein). DNA has the same structure in every gene and in almost all living things.
A mutation is a change in a DNA sequence. DNA mutations in a gene can change what protein is made. Mutations present in the eggs and sperm (germline mutations) can be passed on from parent to child, while mutations that occur in body cells (somatic mutations) cannot be inherited.
A protein is made up of building blocks called amino acids. The main role of DNA is to act as the instructions for making proteins. It is actually proteins that make up most of the structures in our bodies and perform most of life’s functions. For example, proteins make up hair and skin. Proteins in our eyes change shape in response to light so we can see. Proteins in our bodies break down food. Proteins are made in cells and are the major parts of cells, which are the vital working units of all living things.
- Centers for Disease Control and Prevention
National Center on Birth Defects and Developmental Disabilities
Division of Blood Disorders
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