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Dr. Castracani’s research work is focused on the most common form of X-linked sideroblastic anemia which results from mutations in the ALAS2 gene and inhibits normal heme biosynthesis.
Dr. Castruccio Castracani is a Research Associate and Laboratory Manager of the Rivella Lab. He graduated from the Pharmacy School in 2016 and obtained a PhD in Neurosciences in 2019 at the University of Catania, Italy. His PhD thesis focuses the attention on the role of Heme Oxygenase-1 in brain cancers, especially in glioblastoma. He also spent one year at Temple University, hosted by the College of Science and Technology, to improve his skills using the CRISPR-Cas9 technology and the Zebrafish (Danio rerio) animal model. He joined the Rivella Lab in March 2020 working on new gene therapy strategies for the Congenital Sideroblastic Anemias (CSAs), a rare and diverse class of inherited disorders that result in altered mitochondrial iron metabolism, using a combination of in vivo and in vitro experiments. His work is focused on the most common form of X-linked sideroblastic anemia (XLSA) which results from mutations in the ALAS2 gene and inhibits normal heme biosynthesis. Insufficient heme biosynthesis leads to hypoxia, continual stimulation of erythropoiesis and iron overload. The prevalence of XLSA is unknown, but it is estimated that approximately 200 cases with less than 100 unrelated individuals identified as probands. Current treatments are considered supportive therapies, however, patients become non-responsive over time and gene therapy may offer a more long-term treatment strategy for patients with CSA.