Research Overview
Bloom's Syndrome
The Laboratory of Human Genetics in the Department of Pediatrics concentrates its study on clinical and cytological aspects of Bloom's syndrome, a recessively transmitted disorder the main clinical feature of which is small body size. Somatic cells from persons with Bloom's syndrome feature excessive recombination of DNA strands, and they are the most spontaneously mutable cells known. A clinical consequence for persons with Bloom's syndrome of the hyperrecombinability and hypermutability is an enormous predisposition to cancer. Because the cancers that arise in Bloom's syndrome, inordinately frequently and at exceptionally early ages, have a distribution of type and site that resembles that in the general population, this very rare disorder is taken as a model for the biology of the generality of human neoplasia.Areas of research: BLM, the gene that when mutated is responsible for the syndrome, encodes a protein, BLM, that is a member of the RecQ subfamily of DNA helicases. The current experimental objective of the Laboratory is the identification of DNA transactions in which BLM participates. Being determined are BLM's cellular distribution, localization to various domains of the nucleus, and co-localization with other nuclear proteins at various phases of the cell cycle, as well as alterations in these after various types of cellular stress. Work is beginning on a future objective, transfer of a normal BLM into hematopoietic stem cells of persons with Bloom's syndrome, in this way again employing this condition as a model, here for so-called gene therapy.Techniques employed: The Laboratory's technical expertise is predominantly cyotological -- tissue culture, cytogenetics, somatic cell genetics, immunofluoresence microscopy. The work entails a close interaction between experimental laboratory research and clinical investigation, students gaining, therefore, besides experience setting up experiments and learning to handle cells, something of the ethical standards that characterize American medicine.
For more informationa about Bloom's Syndrome, visit the Bloom's Syndrome Registry website at http://weill.cornell.edu/bsr.
