Identification of novel genetic modifiers in ß-thalassemia

• Antragsteller: Professor Andreas Eckhard Kulozik, Ph.D.
• Mitantragstellerinnen / Mitantragsteller: Dr. Dvorah Filon; Professor Moien Kanaan, Ph.D.; Dr. Ariella Oppenheim
• Fachliche Zuordnung: Kinder- und Jugendmedizin
• Förderung: Förderung von 2004 bis 2010
• Projektkennung: Deutsche Forschungsgemeinschaft (DFG) - Projektnummer 5411951

The understanding of the phenotypic variability of genetically homogenous disorders represents a major challenge. In b-thalassemia the b-globin gene is affected by a variety of mutations. The group of patients to be analyzed here is homozygous for a splice site mutation that is common in the Middle East. In contrast to this genetic homogeneity the spectrum of the clinical phenotype ranges from mild anemia to most severe, transfusion-depent anemia. We aim at an understanding of this perplexing clinical variability by using a genetic linkage approach to identify modifying factors and by analyzing the effeciency of an mRNA surveillance mechanism that is referred to as nonsense-mediated decay and represents a candidate genetic modifier of b-thalassemia and other genetic disorders.

• DFG-Verfahren: Sachbeihilfen
• Internationaler Bezug: Israel, Palästina
• Beteiligte Person: Professor Dr. Matthias Hentze