Research Awards
Rudolf Jaenisch, M.D.
Whitehead Institute for Biomedical Research and M.I.T.
"A Mouse Model for Rett Syndrome"
2-Year Award: $259,568
Research Sponsor: The Festival of Food and Wine
Lay Progress Report:
The identification of mutations in the X chromosomal MECP2 gene as the genetic defects underlying the development of Rett Syndrome presents us with a good opportunity to study the pathogenesis of the disease at the molecular level. The mouse Mecp2 gene is highly similar to the human gene and studies of the mouse gene may, therefore, help establish an animal model for Rett Syndrome. Using the gene targeting strategy, we have recently generated mice that lack Mecp2 either in all tissues or selectively in the brain. The mutant mice show features that are similar to those in Rett Syndrome patients, including apparent normal pre and perinatal development but fast postnatal deterioration. We have designed experiments to further analyze these Mecp2 mutant mice, focusing on revealing any cellular defects associated with Mecp2 deficiency in the mouse central nervous system. We are also conducting studies to determine any potential behavioral defects in the mutant mice. We hope that the results of these studies will not only provide insights into the function of the MECP2 gene and how a disease may arise when the gene is defective, but also lay a foundation for designing potential strategies to cure the disease.
Rudolf Jaenisch, M.D.Whitehead Institute for Biomedical Research and M.I.T.
"A Mouse Model for Rett Syndrome"
2-Year Award: $259,568
Research Sponsor: The Festival of Food and Wine
Lay Progress Report:
The identification of mutations in the X chromosomal MECP2 gene as the genetic defects underlying the development of Rett Syndrome presents us with a good opportunity to study the pathogenesis of the disease at the molecular level. The mouse Mecp2 gene is highly similar to the human gene and studies of the mouse gene may, therefore, help establish an animal model for Rett Syndrome. Using the gene targeting strategy, we have recently generated mice that lack Mecp2 either in all tissues or selectively in the brain. The mutant mice show features that are similar to those in Rett Syndrome patients, including apparent normal pre and perinatal development but fast postnatal deterioration. We have designed experiments to further analyze these Mecp2 mutant mice, focusing on revealing any cellular defects associated with Mecp2 deficiency in the mouse central nervous system. We are also conducting studies to determine any potential behavioral defects in the mutant mice. We hope that the results of these studies will not only provide insights into the function of the MECP2 gene and how a disease may arise when the gene is defective, but also lay a foundation for designing potential strategies to cure the disease.