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Engineering a Cure for Sickle Cell Disease

Alicia Lane

Sickle cell disease is a blood disorder caused by a point mutation in the gene for hemogloblin that is characterized by chronic pain, inflammation, stroke, and shortened life expectancy. Though sickle cell disease affects millions worldwide and an estimated 90,000-100,000 Americans, there are few treatment options available (Centers for Disease Control and Prevention, 2011). Repeated blood transfusions and pain management, the primary treatments prescribed to those with sickle cell disease, do not address the underlying causes of the disease and can cause complications (Harmatz et al., 2000), and it is clear that more effective preventative treatments are needed.

The Nanomedicine Center for Nucleoprotein Machines was awarded $16M by the NIH in 2010 to continue its development of genetic therapies for single-gene disorders with sickle cell disease as the initial focus (Robinson, 2010). Hematopoietic stem cells are the cells that give rise to red blood cells, and targeted corrections of the point mutation responsible for the disease in these stem cells may be a way to treat the disease. The concept is that after the genetic corrections, most sickled red blood cells will be replaced by healthy red blood cells, reducing the pathology of the disease.

A professor in the Biomedical Engineering department also received an award from NIH in 2010 for his work with sickle cell disease. The funds are being used to create a comprehensive model for the disease, beginning with the characterization of proteins called proteases and their effects on arterial remodeling and blood flow and extending to clinical data. Eventually, he hopes to develop predictive models that can be used to personalize medicine for those suffering from sickle cell disease ( Georgia Tech Department of Biomedical Engineering, 2010b).

Approaching sickle cell disease from a different angle, another lab in the Biomedical Engineering department explores the biomolecular mechanism for the chronic inflammation and vaso-occlusion associated with sickle cell disease, which evidence suggests are related in part to dysregulation in a specific family of lipids called sphingolipids. Recent in vivo studies using an inhibitor of an enzyme in the sphingolipid metabolic pathway found that the drug was able to reduce pro-inflammatory microparticle production and may be the first step in elucidating a more effective treatment that addresses the biology behind the disease ( Awojoodu et al., 2014).

Georgia Tech and its collaborators across Georgia, the nation, and the world are working to “deliver a blueprint for an integrated sickle cell research strategy” ( Georgia Tech Department of Biomedical Engineering, 2010a). With such an exceptional group of faculty involved in this project, we can hope to see significant strides in treatments for sickle cell disease coming from Georgia Tech soon.

References

Awojoodu, Anthony O., Keegan, Philip M., Lane, Alicia R., Zhang, Yuying, Lynch, Kevin R., Platt, Manu O., & Botchwey, Edward A. (2014). Acid sphingomyelinase is activated in sickle cell erythrocytes and contributes to inflammatory microparticle generation in sickle cell disease .

Centers for Disease Control and Prevention. (2011, September 16). Sickle Cell Disease. Retrieved February 26, 2015, from http://www.cdc.gov/ncbddd/sicklecell/data.html

Georgia Tech Department of Biomedical Engineering. (2010a, November 2). Georgia Tech Hosts Sickle Cell Disease Symposium. Retrieved February 26, 2015, from https:// www.bme.gatech.edu/bme/georgia-tech-hosts-sickle-cell-disease-symposium

Georgia Tech Department of Biomedical Engineering. (2010b, September 29). Manu Platt Wins $1.5M NIH Director's New Innovator Award. Retrieved February 26, 2015, from www.bme.gatech.edu/bme/manu-platt-wins-15m-nih-directors-new-innovator-award

Harmatz, P., Butensky, E., Quirolo, K., Williams, R., Ferrell, L., Moyer, T., . . . Vichinsky, E. (2000). Severity of iron overload in patients with sickle cell disease receiving chronic red blood cell transfusion therapy. Blood, 96(1), 76-79.

Robinson, Abby Vogel. (2010, October 28). Sickle Cell Treatment: NIH Renews $16M Center Focused on Developing a Clinically Viable Technology to Treat Single-Gene Disorders. Retrieved February 26, 2015, from www.gtresearchnews.gatech.edu/nanomedicine-center/