Discipline: Biological Sciences
A'Dae Holloman - Harris-Stowe State University
Co-Author(s): Scott Horrell, Harris-Stowe State University, St. Louis, MO
Sickle cell anemia is an inherited blood disorder resulting from an abnormality in hemoglobin, the protein responsible for transporting oxygen throughout the body. This results in blockage of blood vessels which causes pain, anemia, stroke and lowers life expectancy in the average affected individual. Multiple sclerosis is a disease where the body attacks the myelin sheath of its own nerve cells. This results in muscle weakness, blindness, trouble with sensation, coordination and a variety of neurological problems. Both disorders disproportionately affect the African American community. Patients affected by multiple sclerosis often have mutations in two genes involved in immune response, IL7R or HLA-DRB1. These mutations cause dysfunction in the action of these proteins and can result in a variety of autoimmune disorders. RS334 is a common, well-characterized mutation in the hemoglobin gene which results in sickle cell anemia. In addition, mutations in the ERG gene, a transcription factor with a role in a variety of cellular processes, can result in increased stroke risk among sickle cell anemia patients. Our project is to develop an approach that allows us to genotype these traits in humans. Human genomic DNA can be purified fairly quickly and cheaply using standardized kits and procedures. Additionally, simple PCR-based assays can detect the presence or absence of mutations associated with these genetic disorders. We have designed the assays and are working out the specific condition necessary for them to function. We are using these tests on samples provided by anonymous donors before we begin to apply them for medical diagnosis. These tests will provide a cheap and valuable resource to assist the African American community. By forming partnerships with physicians and offering these tests in free public clinics, we will be able to provide critical health information to an at-risk community. Due to the inexpensive nature of these tests, we will be able to assist a large number of individuals. This will help these patients’ physicians guide their treatment and prepare them for the consequences of these debilitating disorders. Reference: Snpedia.org
Funder Acknowledgement(s): I thank S. Horrell, and D. Chalker for their help and funding. Funding was also provided by a grant to D. Chalker from the National Science Foundation and an HBCU-UP grant from the National Science Foundation to Harris-Stowe State University. I would also like to thank Harris-Stowe State University for providing the opportunity and Washington University for use of their facilities.
Faculty Advisor: Scott Horrell, firstname.lastname@example.org
Role: I have made the test for the research and purified DNA in order to test the DNA for the autoimmune diseases prevalent in the African American Community.