- 2013 Dup15q Alliance awarded Dr. Dindot and Dr. Silverman a grant of $40,000 to create mouse models of Dup15q Syndrome in conjunction with a grant from SFARI for $85,000.
- Once successfully created, the Dup15q Mice have reproduced and cell lines have been frozen for future use.
- The success of this project lead to a NIH R01 Research Project Grant – Identifying Characterization of Novel Models of Dup15q Syndrome.
- From this, they created 3 Dup15q mice with different Ub3ea isoforms to determine which one showed the neurological features to Dup15q Syndrome.
- In 2017 they discovered that forebrain, neuronal overexpression of Ube3a isoform 2 causes behavioral phenotypes including seizure susceptibility.
- Began testing if genetic reduction of Ube3a (isoform 2) can reverse, alleviate and lessen motor impairments, seizure susceptibility and/or abnormal EEG
- The team has successfully proved genetic intervention may limit, reverse, and/or prevent the course of Dup15q Syndrome impairments in a preclinical mouse models.
Dup15q Alliance is thankful to Dr. Silverman and her lab’s dedication to Dup15q Syndrome and we look forward to supporting her well into the future.
To watch the full interview visit: Dr Jill Silverman Dup15q Mouse Models – YouTube