$80,000 The mouse model provides an ideal way to evaluate therapeutic attempts to increase UBE3A function on the otherwise silenced paternally-derived mouse chromosome. Using novel genetic engineering methods, Dr. Beaudet and his lab were able to develop a engineered mouse […]
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$62,903 One of the unique aspects of the brain problem in AS is that only the UBE3A on the maternally inherited number 15 chromosome is disrupted. The other UBE3A, located on the paternally derived chromosome, is silenced by a control […]
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$14,145 ASF has been aggressive in funding a number of investigators, as well as multiple centers, involved in providing dietary supplements aimed at augmenting the biological availability of methyl groups (see Beaudet study, in 2000). This project helped facilitate clinical […]
Read more $26,000 Funds for this project represent continued funding for this investigator to conduct expanded clinical trials to attempt to demonstrate the effect of providing methylation-rich dietary supplements to those with AS.
Read more$50,000 The gene disrupted in AS, UBE3A, is unique because its action is controlled by a remote DNA region that is called the imprinting center(IC). In the normal brain, this IC turns off the UBE3A that the father contributed (on […]
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