On November 9, Arleen Auerbach, PhD, director of the Laboratory of Human Genetics and Hematology at Rockefeller University, presented a J. Walter Juckett Distinguished Lecture, summarizing her 20 years of Fanconi anemia (FA) research. FA is a genetically heterogeneous autosomal recessive syndrome associated with chromosomal instability, skeletal and other congenital abnormalities, bone marrow failure, and predisposition to cancer.
Auerbach explained that FA initially appeared as a simple autosomal recessive disease, but eventually proved to be a complex multi-allelic genetic disorder. Auerbach also stressed the phenotypic differences found in FA patients and the genetic cross-talk between FA and other chromosomal instability syndromes. Her laboratory’s development of multiple genetic and cytogenetic assays for FA has facilitated postnatal screening in higher risk populations as well as prenatal diagnosis within families demonstrating a history of the disease.
Janet Murray, PhD, a postdoctoral trainee in the laboratory of VCC member Barry Finette, MD, PhD, said the link between FA and pediatric hematological malignancies was especially interesting to her, since she studies the occurrence of pediatric malignancies in normal populations. “Large chromosomal alterations predominate in pediatric malignancies and correlate with the prognosis of the disease,” said Murray. “The high level of pediatric hematological malignancies occurring in FA patients, as described by Dr. Auerbach, supports the current model that large chromosomal alterations are causal in the development of these pediatric malignancies.”