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Connections to the Real World

Ours is a basic research laboratory, meaning we seek to understand how things work. Though we tend to be motivated by curiosity, our research has numerous connections to the real world and to human health. Studies of genome stability are intimately related to understanding cancer, as genome instability is a hallmark of cancer and often an initiating cause.

Our research is done primarily with Drosophila melanogaster, often called the fruit fly. Flies don't get cancer - they don't live long enough, and they don't have far fewer cells than humans or other vertebrates. Cells, however, and the genes they carry, are similar whether you're a fly or a person. Thus, studies in flies help us to understand how humans work at a genetic and cellular level.

Many of the genes we study have counterparts (homologs or orthologs) in humans that are associated with genetic diseases involving a predisposition to cancer. These include:

  • Blm: Mutations in the human ortholog (BLM) cause Bloom syndrome. An important feature of this disorder is early onset of malignancies, spanning the entire spectrum of cancers found in the general population.

  • mei-9: Mutations in the human ortholog (XPF/ERCC4) cause xeroderma pigmentosum, which is characterized by extreme sensitivity to sunlight and onset of skin cancer, typically in early childhood.

  • mus312 and fancm: Mutations in the human orthologs (SLX4 and FANCM, respectively) cause Fanconi anemia, a complex disorder is associated with bone marrow failure and elevated rates of some cancers.

  • mei-41: Mutations in the human functional homolog (ATM) cause ataxia telangiectasia. Children with AT experience progressive neural deneration, sensitivity to ionizing radiation, and high incidence of cancers of the blood (leukemia and lymphoma).

  • Marcal1: Inherited mutations in human SMARCAL1 cause Schimke immunoosseous dysplasia (SIOD), a rare form of dwarfism.

We study these genes in flies not to provide an animal model for these disorders, but to learn about the basic functions of these genes in maintaining stability of the genome.