The cause of autism is thought to involve a combination of both genetic and environmental factors. One approach to understanding the genetic contribution to autism has been to use large samples to investigate multiple genes associated with the disorder. This approach, known as a genome-wide association study, has resulted in several interesting genetic ‘hits,’ — the discovery of genes that appear to be associated with autism.
The Kaiser Permanente Autism Family Biobank Study is a three-year project at Kaiser Permanente Northern California. The study is open to Kaiser Permanente Northern California members with autism spectrum disorder (ASD) and their biological parents.
Advancing scientific knowledge for individuals severely affected by autism is a strategic priority for the leading autism science foundations and the National Institutes of Health. Knowledge and treatment options continue to lag for those who are nonverbal, have an intellectual disability or display challenging behaviors, in large part due to these groups’ underrepresentation in study samples. To address this critical knowledge gap, the Autism and Developmental Disorders Inpatient Research Collaborative (ADDIRC) is performing the Autism Inpatient Collection (AIC) study.
Folic acid is an essential vitamin, meaning that people must consume folic acid in the diet, as the body is unable to manufacture it on its own. Strong evidence shows that women who take supplemental folic acid at the time of conception are less likely to give birth to children with neural tube defects such as spina bifida. If folic acid plays a crucial role in early brain development, it may also impact the risk for autism.
Since 2008, Abba Krieger, Andreas Buja and their colleagues in the statistics department at the Wharton School of the University of Pennsylvania have carried out various statistical analyses on genotype (genetically coded information) and phenotype (outward manifestation of that information) data from individuals with autism.
The mission of the Interactive Autism Network (IAN) is to accelerate autism spectrum disorder research in order to improve the lives of people living with this disorder. IAN has fulfilled an important need by offering valuable services (assistance with participant recruitment and data distribution) to the research community.
Prenatal and early-life infections and associated febrile and immune responses may contribute to autism by regulating brain maturation and central nervous system function. W. Ian Lipkin, Mady Hornig and their colleagues at Columbia University aim to examine the role of infection and immunity in the pathogenesis of neurodevelopmental disorders. They plan to study a large pregnancy and birth cohort comprising more than 114,000 children and their parents.
Rhode Island is emerging as a national leader in innovative, integrated research and treatment for autism spectrum disorders. With regard to serving people with developmental disorders, the state has a deep tradition with strong relationships among academia, government, educators, service providers and families. Demographically, Rhode Island is a microcosm of the U.S.; it has a relatively stable population located within a small geographic region, which works well for longitudinal and population-based epidemiological studies.
Matthew Goodwin and his colleagues at Northeastern University in Boston and the Georgia Institute of Technology are working to develop a mobile system for recording behavior and physiology in individuals on the autism spectrum, for use in home settings.
Lauren Weiss and her colleagues used a ‘pathway’ approach — looking at a group of genes connected in a defined biological pathway — to investigate the role of the RAS/MAPK signaling pathway in autism traits. This pathway controls many cellular functions. The researchers compared a large sample representing individuals with RASopathies — genetic, developmental disorders caused by mutations activating the RAS/MAPK pathway — with unaffected siblings and individuals with autism.