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Advancing Knowledge, Care & Cures
CHORI's Center for Sickle Cell Disease & Thalassemia

Exciting breakthroughs and novel treatment approaches only result from the painstaking diligence of laboratory investigation. Behind every cure is the solid bench work of the basic researcher. CHORIís Center for Sickle Cell Disease and Thalassemia is no exception.

While Frans Kuypers, PhD, directs the red cell laboratory for translational studies, he focuses his basic research on the mechanisms that maintain red blood cell phospholipid composition and organization in hemoglobinopathies like sickle cell disease and thalassemia. Using human samples obtained in SCTís clinical setting and tissue from murine models for sickle cell and thalassemia, Dr. Kuypers has not only been able to elucidate red cell pathology at the molecular level, but also has the potential to design strategies relevant to the treatment of disorders associated with altered plasma membranes.

Carolyn Hoppe, MD, is the medical director of the CHORI hemoglobinopathy laboratory and the California State Newborn Screening for Hemoglobinopathies Follow-up program. Her research is focused on the genetic modifiers of sickle cell disease, including stroke. Together with Dr. Kuypers, she established the CHORI Laboratory Diagnostics Center to serve as the central genotype-phenotype laboratory for the Northern California Comprehensive Sickle Cell Center Collaborative Database Project. Dr. Hoppeís research seeks to identify particular HLA alleles and other candidate genes which predispose to the development of stroke in children with sickle cell anemia.

The research conducted by Elizabeth Theil, PhD, Leader of the Council for BioIron at CHORI (CeBIC) exemplifies the potential for better management of sickle cell and thalassemia that results from dedicated bench work. Dr. Theil focuses her research on the structure and function of the iron protein, ferritin, as well as on the regulation of ferritin mRNA and genes in relation to transfusional iron overload in sickle cell and thalassemia. Through her research, Dr. Theil has identified two novel approaches to chelation therapy that could revolutionize chelation treatments, one based on her discovery of gated pores, and the other through the discovery of a small, drug-like molecule that regulates protein biosynthesis.

These are but a few examples of the ways in which basic research in SCT is moving knowledge of these debilitating disorders into the future of treatment and cures. Please explore the Investigator links in the sidebar menu to discover all that SCT has to offer in basic research.

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