SCD is an inherited blood disorder caused by a mutation of the gene encoding for hemoglobin, resulting in the production of abnormal hemoglobin called HbS. The rigidity of the red blood cells, assuming sickle shapes that restrict proper blood flow and thereby result in painful episodes, chronic anemia, and serious complications such as organ damage, stroke, and increased risk for infections. SCD primarily affects people of African, Mediterranean, Middle Eastern, and South Asian origin, although its highest frequency is seen in Sub-Saharan Africa. More than 300,000 babies with SCD are born annually around the world, with close to 100,000 residents-primarily African Americans-afflicted in the United States. The management of SCD has evolved over the years with the advent of treatments such as hydroxyurea, blood transfusions, and bone marrow transplantation. These have provided symptom alleviation and improved patient outcomes. Symptomatic in nature, not curative, and very often symptomatic, these bear with them adverse effects. Definitely, a cure-one hopes-from the up-and-coming gene therapy should address the underlying genetic mutation. Early-phase clinical trials have so far shown promising results that could change the face of SCD treatment. Overview This presentation will describe the epidemiology of sickle cell disease, review current treatment approaches, and then examine in detail gene therapy as a revolutionary option for the cure of SCD.

Learning Objectives:

• Understand the Epidemiology of Sickle Cell Disease (SCD): Participants will be able to describe the global prevalence of SCD, with a focus on its incidence among different populations, particularly African American and Hispanic American communities in the United States.
• Evaluate Current Pharmacological Treatments for SCD: Participants will gain the ability to assess the effectiveness of existing pharmacological interventions for SCD, understanding their mechanisms in symptom management and prevention of complications
• Analyze Emerging Gene Therapy Approaches for SCD: Participants will be equipped to critically evaluate the latest advancements in gene therapy for SCD, including an understanding of their safety, efficacy, and the potential impact on future treatment and research directions.

Vivien Sheehan, Ph.D.

Dr. Vivien Sheehan is a physician scientist dedicated to improving the lives of individuals with sickle cell disease of all ages. Vivien earned a PhD in Biochemistry from Texas A&M before entering medical school at Emory University School of Medicine. At Emory, Dr. Sheehan was inspired by her patients with sickle cell disease, and decided to devote her career to sickle cell research and patient care. She then went on to complete a med-peds residency and two fellowships, pediatric Heme Onc at St Jude Children’s Research Hospital and Internal Medicine Hematology at the University of Tennessee. Dr. Sheehan spent 8 years at Baylor College of Medicine, developing her research program, which includes omics, transition from acute to chronic pain, fetal hemoglobin regulation, gene therapy and red cell rheology research. Vivien moved to Atlanta in 2020 and is now an Associate Professor of Pediatrics at Emory University School of Medicine, where she directs their translational sickle cell disease research program.