Eliezer Calo, Ph.D.

Research

The Calo lab will explore how defects in the assembly of ribosomes can lead to childhood disorders that affect different parts of the body. All cells use ribosomes to synthesize their proteins. Yet mutations that disturb the production of ribosomes—or the formation of the molecular factories in which this assembly process takes place—do not affect all of the body’s tissues equally. For example, mutations in a gene involved in the production of ribosomal RNA (a key component of ribosomes) underlie Treacher Collins syndrome (TCS), a condition that affects the development of the bones and tissues of the face. Our group has determined that zebrafish bearing a TCS mutation harbor additional damage to the genes encoding ribosomal RNAs. Now, using a combination of cutting-edge techniques in molecular and developmental genetics, genomics, and biochemistry, we will determine how TCS mutations target ribosomal RNA genes and how they alter the composition and formation of ribosome-assembling factories. We will also address why these defects produce symptoms that range from moderate to severe and whether damage to ribosomal RNA genes can also contribute to the variations in disease severity seen in other childhood disorders—findings that can be applied to the diagnosis and treatment of a variety of developmental conditions.