Autism Speaks Weatherstone fellows publish new mouse model findings in Cell journal

Autism SpeaksJul 1 2011

Autism Speaks Weatherstone Pre-Doctoral Fellows M. Ali Bangash, a 2009 fellow, and Mehreen Kouser, a 2010 fellow, recently published new findings in the journal Cell that shed light on the biology of autism. Their research is based on a mouse model that mimics a human mutation of a gene that is known to be associated with autism spectrum disorder (ASD), known as SHANK3. Mutations of this gene have recently been implicated in a subset of individuals with autism "Enhanced Polyubiquitination of Shank3 and NMDA Receptor in a Mouse Model of Autism" details a new SHANK3 mutant mouse and demonstrates how this autism-associated gene affects brain functioning. Examining the genetic causes of autism, Bangash worked with mentor Paul Worley, M.D. of Johns Hopkins University, and Kouser worked with mentor Craig Powell at the University of Texas Southwestern Medical Center at Dallas to refine a mouse model to study the gene SHANK3 and investigate its implications for autism. Their work specifically shows that the gene is involved in how neurons communicate at synapses. When this gene mutation was recreated in a mouse, the animals had significant changes in a neurotransmitter, glutamate, which regulates communication between neurons in the brain and results in behavioral deficits consistent with symptoms of autism.

"This is significant published research from our Weatherstone Fellows portfolio. We are pleased to see the fruits of their efforts so soon, and the exceptional caliber of this work is representative of the excellence in this group of scientists who are pursuing the next generation of autism research," said Geraldine Dawson, Ph.D., chief science officer for Autism Speaks.

Cheryl Weatherstone Vance recently told a gathering of Weatherstone fellows, "My father, along with the Stavros Niarchos Foundation, wanted the brightest minds in the country to find answers to the mysteries of autism. You are on an incredible journey as your research will benefit countless lives. It is exciting to see the progress you have made already. All of you are presented with a great challenge and I am honored that you have chosen autism as your field of research. It is through your work that I can have hope that there will be a cure for every child and their families who are affected by autism."

Autism Speaks is pleased to announce the 2011 Class of Dennis Weatherstone Pre-Doctoral Fellows. These eight fellows were selected out of 50 proposals from a highly qualified and enthusiastic field of candidates. Projects were selected for funding based on the strengths of the training plan, research strategy, mentor's qualifications and the relevance of the topic to Autism Speaks' research priority areas.

Behavioral Neuroscience is the focus of Cara Damiano, working with mentor Gabriel Dichter at University of North Carolina on Behavioral and Neural Correlates of Reward Motivation and Jilian Filliter working with Shannon Johnson at Dalhousie University will study Preference Acquisition in Children and Adolescents.

Identifying subtypes of autism is the focus of Rui Luo working with Daniel Geschwind at University of California Los Angeles on Genome-wide Expression Profiling Data Analysis and Nir Oksenberg working with mentor Nadav Ahituv at University of California San Francisco on Deciphering the Function and Regulation of AUTS2.

Dissemination of best practices, a strategic goal of Autism Speaks, will be advanced through the work of Frances Martinez-Pedraza who will work with mentor Alice Carter at University of Massachussets on Dissembination of Screening to Underserved Culturally-Diverse Families and at Michigan State University, fellow Allison Wainer will work with mentor Brooke Ingeroll on Internet-based Program to Teach Naturalistic Intervention to Parents.

Kristopher Nazor will work in developmental biology on Stem Cell Platform for Identification of Defects with mentor Jeanne Loring at Scripps Research Institute. Using stem cells created from skin tissue to create neurons and understand the biological basis of autism will be the focus of Sean Johnston at University of Wisconsin Madison under mentor Ronald Raines.