Rare Epilepsy Partnership Award

Characterization of a Novel Dup(Atp10a-Tub5gcp5) ‘Dup15q’ Mouse Model with Varying Levels of UBE3A

Ype Elgersma
Erasmus University Medical Center (Erasmus MC)

Dup15q syndrome is a neurodevelopmental disorder caused by duplications of a region on chromosome 15, often resulting in intellectual disability and intractable epilepsy. Recent findings indicate that the symptoms may be caused by an interaction of the UBE3A (Ubiquitin Protein Ligase 3A) gene with other genes in the duplicated region. However, the precise interaction between UBE3A and the other duplicated genes is unclear.  

Dr. Elgersma’s team proposes to develop a new mouse model to study the interaction and dose effect of these genes. If successful, this project will generate a novel representative mouse model of Dup15q syndrome which will be an important tool to study the syndrome as well as to test potential therapies in the future.

In partnership with the Dup15q Alliance.


This grant is sponsored by the Robert Withrow Wier Fund