Shaffer, Lisa
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Research Interests
The Shaffer laboratory investigates the molecular and chromosomal basis of cytogenetic abnormalities.  Using molecular cloning strategies, the Team clones the breakpoints of chromosome abnormalities and examines the sequences at the breakpoint junctions. The goal is to understand why chromosomes break and the mechanisms that stabilize broken chromosomes. The Team focuses on three disorders, Monosomy 1p36, Potocki-Shaffer syndrome and deletion of 11p11.2, and Robertsonian translocations.  Deletions of 1p36 are one of the most common chromosome abnormalities in the human population with an incidence of 1 in 5,000 newborns.  Robertsonian translocations occur in 1 in every 1,000 individuals in the human population and is the most common chromosome abnormality leading to fetal loss and mental retardation.  Through these efforts, the Shaffer laboratory's goal is to understand the mechanisms of chromosome rearrangements and the identification of at risk individuals in the population.

Publications
Colmenares C, Heilstedt HA, Shaffer LG, Schwartz S, Berk M, Murray JC, Stavnezer E (2002) Deletion of the SKI proto-oncogene in patients with 1p36 syndrome predicted by strain dependent defects in Ski -/- mice. Nature Genet 30:106-109.

Megarbane A, Bejjani BA, Shaffer LG, Jambart S, Souraty N, Kashork CD, Le Merrer M (2002) Craniofacial anomalies, deafness, brachydactyly, short stature, and moderate mental retardation due to a cryptic 6p;11q translocation. Am J Med Genet 108:69-74.

McGowan KD, Weiser JJ, Horwitz J, Berend SA, McCaskill C, Sutton VR, Shaffer LG (2002) The importance of investigating for uniparental disomy in prenatally-identified balanced acrocentric rearrangements. Prenat Diagn 22:141-143.

Wu, Y-Q, Bejjani, BA, Tsui, L-C, Osborne, LR, Shaffer, LG (2002) Refinement of the genomic structure of STX1A and mutation analysis in nondeletion Williams syndrome patients. Am J Med Genet 109:121-124.

Coveler KJ, Yang SP, Milstein JM, Wu YQ, Knox-Du Bois C, Sutton VR, Beischel L, Johnson JP, Shaffer LG (2002) A case of segmental paternal isodisomy of chromosome 14. Hum Genet 110:251-256.

Das P, Stockton DW, Bauer C, Shaffer LG, D'Soouza RN, Wright JT, Patel PI (2002) Haploinsufficiency of PAX9 is associated with autosomal dominant hypodontia. Hum Genet 110:371-376.