Distinguished Cytogeneticist being honored:

Stuart Schwartz, Discipline Director, Cytogenetics, LabCorp


 

ACC service award:

Arthur Brothman, Emeritus Professor, University of Utah


 

Invited Speakers:

Terry Hassold, Washington State University

Aneuploidy in humans: new insights into an age-old problem

Aneuploidy is the most common genetic complication of pregnancy, with approximately 0.2-0.3% of newborn infants being trisomic. However, this represents just the tip of a large iceberg, because most aneuploid conceptions die in utero.  Indeed, studies of preimplantation embryos suggest that a large proportion, if not a majority, of fertilized human eggs have extra or missing chromosomes.  Because the vast majority of errors result from the fertilization of a chromosomally abnormal egg by a normal sperm, attention has focused on why human female meiosis is so error-prone.

In this presentation, we will summarize recent studies indicating that there are multiple routes to female-derived aneuploidy; e.g., studies of model organisms indicate the contribution of errors occurring during the long meiotic arrest stage or as part of the meiotic cell cycle checkpoint machinery. We will also discuss our own work, which has focused on analyzing human meiosis “as it happens” in fetal oocytes and in spermatocytes.  These studies demonstrate remarkable differences between human males and females in the way in which chromosomes find and synapse with one another, in the packaging of chromatin, and in the control of the meiotic recombination pathway.  Further, they indicate that errors in fetal oogenesis – especially those that lead to failure to recombine or abnormally located crossovers — are surprisingly common in humans. Indeed, our observations suggest that the propensity to nondisjoin may be established – at least in part – at the very beginning of the development of the human oocyte.

 

James Armitage, University of Nebraska

Treating patients with lymphoma as a paradigm for “personalized medicine”

The history of the development of therapy for patients with lymphoma is a wonderful example of learning more about a disease in a way that allows matching each subtype of the illness to the most effective therapy. One of the keys has been insights into the biology of lymphoma that has been possible because of advances in understanding the genetic abnormalities of the disorder. Among the many examples are the translocation that characterizes Burkitt lymphoma, gene expression studies that led to recognition of major subtypes of diffuse large B-cell lymphoma and, more recently, the existence of “double hit” lymphomas and there particularly poor prognosis.

 

Mario Capecchi, Nobel Laureate, University of Utah

Modeling Synovial Sarcoma from Initiation through Metastasis

Synovial Sarcoma is the most common soft tissue sarcoma in adolescents and young adults. The prognosis for patients that have acquired metastatic synovial sarcoma is poor. We have been able to model this neoplastic in mice and the disease mirrors human sarcoma, histologically and molecularly. PTEN appears to be a major driver to metastasis.