Our Research Approach

Looking Ahead
It is imperative that we consider other approaches to research as it becomes clear that mutations in a single gene cannot account for the variable presentations seen in a single neurodevelopmental disorder, or otherwise explain why the numbers are concurrently increasing in multiple neurodevelopmental disorders.

Research scientists are beginning to identify vulnerability genes, genes that contain small variances called polymorphisms that alone would not cause a disorder but could make a developing child, especially a developing fetus, more susceptible to a disorder. Having a polymorphism may provide a “risk factor” by making the child more susceptible to specific environmental exposures that are significant enough to change developing physiology and cause a disorder. Some individuals have mild symptoms of a disorder without enough severity to warrant a full diagnosis. These “personality traits” are often seen in the family members of children with a disorder such as autism or ADHD. However, while these traits may be pronounced in the family members of affected children, they are not usually disabling. This indicates that these disorders are obviously genetically based, and the genes involved may provide for vulnerability in the affected child.

Epigenetic influences are also emerging as contributors to neurodevelopmental disorders. Epigenetic factors change gene expression over time without affecting the genes themselves. Currently, there are several areas of study in epigenetic research, such as DNA methylation, RNA-associated silencing and histone modification. These areas of genetic research focus on the causes of inappropriate gene expression, where genes are silenced or gene expression is increased, decreased or ill timed.

It is becoming evident that there are additional factors that act as modifiers of gene expression. These factors may amplify or diminish the effects of these genes, changing their interactions and turning personality traits into disorders. Our approach to research will investigate environmental factors that may modify fetal brain development after conception, especially when combined with genetic influences such as polymorphisms or epigenetic factors that may increase susceptibility to those factors. This approach is a departure from the single-gene, single-disorder approach to one in which the genetic and clinical relationships among several disorders can be explored.