Janine LaSalle, Ph.D. University of California, Davis $100,000 for 1 year
The role of MeCP2 in Rett Syndrome
Rett syndrome (RTT) is a neurodevelopmental disorder that commonly involves autism. RTT is caused by mutations in a single gene, called MECP2. RTT is the only pervasive developmental disorder with a known genetic cause, and MECP2 mutations or expression defects are also observed in autism. Therefore, understanding the role of MECP2 in neurons has broad relevance to autism.
Previous research has shown that MECP2's protein product (MeCP2) turns off other genes when they are no longer needed. This project seeks to understand how MeCP2 exerts its control, particularly on genes involved in neuronal maturation. Experiments will test the hypothesis that the form of MeCP2 and its location within the nucleus of a neuron influence which genes MeCP2 can shut down.
What this means for people with autism: Understanding MeCP2 function in neurons will clarify the molecular interactions that go awry during neural development in RTT and autism. Because RTT shares significant overlap with autism, these results will also be instrumental in designing future therapies.
Catherine Lord, Ph.D. University of Michigan, Ann Arbor $100,000 for 1 year
Longitudinal studies of Autism Spectrum Disorder: 2 to 22
As the number of preschool children identified with ASD increases each year, so too will the number of children with ASD moving into adolescence.
This project aims to determine early predictors of adolescent outcome in ASD as measured in adaptive skills, quality of life, positive affect, behavior problems, and symptoms of anxiety and depression. The project will focus attention primarily on coping strategies employed by individuals and families and their impact on well-being and independence. The development of children with autism from ages 2 to 19 will be examined in two existing, well-described samples from an early diagnosis study initially funded by the National Institutes of Health (NIH). Bridge funding will now allow Dr. Lord and colleagues to follow these families for yet another year as they seek additional NIH funding. This study will also add a more specific focus on psychiatric co-morbidity and mood disorders in youth with ASD, and their relationship to quality of life.
What this means for people with autism: Knowledge of the link between the early development of adaptive skills and later well-being in adolescence will help guide and improve the treatments provided to young children with autism and their families.