Adham Adam
Pronouns: He/Him
Research Mentor(s): Sharon Singh
Research Mentor School/College/Department: Pediatrics / Medicine
Program:
Authors:
Session: Session 6: 3:40 pm – 4:30 pm
Poster: 63
Abstract
Diamond Blackfan anemia (DBA) is a rare bone marrow failure syndrome that occurs when the bone marrow fails to produce red blood cells (RBCs). DBA is associated with severe anemia, congenital anomalies, short stature, and cancer predisposition, and is potentially a life-threatening condition. Most cases of DBA are caused by a heterozygous ribosomal protein mutation. Previous studies have determined that RPL5 is one of the commonly mutated genes in DBA and is linked to a more severe phenotype. To determine how these mutations affect erythropoiesis we have developed mouse models with an Rpl5 mutation. After studying the mice with this mutation, we have further found that their embryos experienced a severe developmental block in erythropoiesis at embryonic day 12.5 (E12.5). RNA-Seq from developing RBCs showed significant dysregulation of genes in the lipid metabolism pathway. In this research study, we aim to understand the role of lipid metabolism in erythropoiesis and DBA, in order to potentially find a cure for this disease.
