Dr. Karen Usdin

Dr. Karen Usdin received her Ph.D. in 1986 from the University of Cape Town, South Africa. After doing Post-Doctoral work on gene regulation in bacteria and a family of endogenous retrovirus-like elements in mammals, she turned her attention to the Repeat Expansion diseases, a group of genetic disorders that includes fragile X syndrome. She is now a Senior Investigator in the Laboratory of Molecular and Cellular Biology at the National Institutes of Health, U. S. A. Her group is investigating the mechanism responsible for the fragile X mutation. They are also interested in the molecular basis of the premature ovarian failure seen in some female carriers of “premutation” alleles and the tremor and ataxia seen in some male carriers. In addition, they are trying to understand the molecular events that lead to the transcriptional silencing of the FMR1 gene in people with fully mutated alleles. Their work involves the analysis of DNA and RNA structures formed by the fragile X gene as well as the proteins that bind to them. Her group has also developed a number of cell and animal models for studying different aspects of fragile X syndrome. It is hoped that these models may provide new insights into the normal and pathological regulation of the FMR1 gene, and may one day provide good systems for testing potential treatments for this disorder.