Faster diagnosis. Improved treatments. Revolutionary research.
Did you know?
Children with sickle cell disease can experience excruciating pain and repeated visits to the Emergency Department. They have a high risk of stroke and an average life expectancy of only 50 years.
Exceptional Patient Care and Treatment
Cure Sickle Cell Walk & Family Fun Day benefits sickle cell research and patient care at Children’s Hospital of Philadelphia (CHOP), where a large and comprehensive program offers all the specialty services children with sickle cell disease need. These services include newborn screenings, transfusions, 24-hour access to a hematologist, pulmonary and cerebrovascular care, psychosocial services, and the Hematology Acute Care Unit.
Breakthrough Research
Currently, the only cure for this chronic, inherited disease is a bone marrow transplantation, which is so limited that relatively few procedures are completed. Our researchers are on the cusp of a history-making breakthrough: a curative gene therapy that can bring healthy bone marrow into the blood cells. Your support will bring us one step closer to making this innovative research a reality.
CHOP Sickle Cell Research Landmarks
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- First to identify the neuroradiologic findings in children with sickle cell disease and stroke, and to describe safe and effective use of transfusion therapy for the prevention of recurrent stroke.
- Discovered novel red cell enzymes and factors regulating globin gene regulation and hemoglobin stability key to advances in gene therapy for sickle cell disease and thalassemia.
- Landmark studies of red cell alloimmunization in children with sickle cell disease and the introduction of molecular antigen typing to prevent recurrent alloantibodies.
Current Research at CHOP
Drug Development
Developing effective, accessible drugs that can be taken orally by patients with sickle cell disease (SCD) would have a broad impact in areas of high SCD prevalence globally, such as Africa. Our therapeutic approach is to create conditions that favor hydration of the red blood cells. This lowers the intracellular concentration of hemoglobin and prevents sickling. We are interested in one class of compounds — specifically antibiotic peptides such as gramicidin A and its analogues. We are now synthesizing gramicidin A variants for complete in vitro testing using blood samples from individuals with SCD, as well as samples from mice with sickle cell disease.
Gene Therapy
Gene therapy — whether through gene editing or gene addition — is a very promising approach for sickle cell disease (SCD), but its effectiveness is limited because high levels of therapeutic transgenes are needed to correct the genetic defect. We plan to make a simple but important contribution to this research area by designing transgenes with mutations we expect will counter the development of SCD. These transgenes could replace the defective gene, in addition to having anti-SCD benefits.
Sickle cell disease is a painful, life-threatening condition. 100% of funds raised by the Cure Sickle Cell Walk & Family Fun Day benefit children afflicted with sickle cell disease in our community and around the world.
