Nonprofit Rallies Funds to Create Autism Mouse Model

It’s an open secret in the genetics community: Many researchers who create mouse models of disorders keep them inside the walls of their own laboratories, sometimes for years. Faced with this competitive disadvantage, other researchers usually stay away from projects related to the mice.But for one hot mouse model related to a rare autism syndrome, an advocacy group of about 600 families is hoping to clear up the logjam. The organization is dedicating a chunk of its limited resources to the creation of a freely available version, hoping to spur more basic research — and, ultimately, treatments.The mutant animals carry a duplication of UBE3A, a gene within the chromosomal region 15q11-13. Deletions or mutations in UBE3A cause Angelman syndrome, which is characterized by developmental delay, seizures and a happy demeanor. Duplications of the region lead to a syndrome characterized by poor muscle tone, stunted growth, cognitive disability and, often, autism.Last year, Matthew Anderson’s team at the Beth Israel Deaconess Medical Center in Boston debuted mice carrying duplications of UBE3A. These animals made a splash in the autism community because they showed the three core symptoms of the disorder: social deficits, abnormal communication and repetitive behaviors.In the months that followed, several other researchers asked to use the animals. Worried about being scooped on his research and losing funding as a result, Anderson declined to share.This constraint concerned the Dup15q Alliance, an advocacy group that promotes awareness of the 15q duplication syndrome.The group’s leaders typically organize conferences for scientists and families and don’t fund research. But given the potential of the new mice, they decided to change course.Read more at...SFARI, August 2012.