Researcher Profile: Vanessa Troiani, Ph.D.

Vanessa Troiani, Ph.D., is an assistant professor at Geisinger Autism and Developmental Medicine Institute — and she’s using your data!

 

Dr. Troiani is interested in how our inborn motivations change the activity in the brain and affect our attention and perception. Her research aims to understand the role of behavior and genetics in atypical motivation processes in the brain and how this contributes to psychiatric and neurodevelopmental disorders. Dr. Troiani studies the structure and function of brain regions that are involved in motivated attention. This includes reward-processing structures like the amygdala, nucleus accumbens, and orbitofrontal cortex. Her scientific worldview is multidisciplinary, as she is interested in how atypical motivation can happen in multiple disorders, from autism to obesity to addiction. Dr. Troiani uses a variety of techniques in this work, including psychophysics, eye tracking, brain imaging, electronic health record analysis, and genomics.

We interviewed Dr. Troiani about her research:

How did you first start collaborating with Simons Searchlight research?

I received a Simons Explorer award in 2015. In this grant, we aimed to understand how responses in the eye’s pupil are related to behaviors and symptoms in children who have autism spectrum disorders and neurodevelopmental concerns. This work in my lab has been spearheaded by Dr. Antoinette DiCriscio, a developmental psychologist who was a postdoctoral fellow at the time of the award, and is now a staff scientist. We have published a series of papers demonstrating a relationship between pupil responses and autism traits in children with and without neurodevelopmental concerns.

How have you and your team used information collected from Simons Searchlight families in your projects? What type of data did your team use, and was it associated with a specific gene change?

Our work has mainly focused on studying the relationship between autism traits in children who do and do not have gene changes. We have been trying to understand the relationship between symptoms that children with neurodevelopmental differences, including autism, have and assessing whether we can measure differences in the pupil response that track with those symptoms. For example, we ask the questions: Are pupil responses and reflexes bigger in those that have more difficulties with social reciprocity? Are pupil responses and reflexes bigger in those that have more issues with repetitive behaviors?

Our research takes place mostly at Geisinger’s Autism and Developmental Medicine Institute, where our clinical team sees many children who have gene changes that families in Simons Searchlight also have. Thus, many children who have gene changes are included in our published work. As we continue to collect data, we will be able to study whether specific types of gene changes are more likely to affect pupil responses.

From a researcher’s perspective, how important is it for families that have rare genetic disorders to become involved in a registry study? 

Family networks are critical for moving the science of rare genetic disorders forward. In order for scientists to complete valid statistical tests, we need to have a certain amount of information from families. Because the genetic disorders we study are rare, we would not be able to obtain enough information if we only focused on children and families that are seen at one clinic. For this reason, we are incredibly grateful for our Simons Searchlight families and hope that we can continue to be partners in this exciting research.

What are your future plans for collaborating with Simons Searchlight or using Simons Searchlight data?

We are incredibly excited about the future and collaborations with Simons Searchlight! Our past work focused only on pupil response, but we have recognized that differences in the eye and basic vision have not been studied in children who have neurodevelopmental concerns, particularly in families with genetic differences. Moving forward, we hope to learn more about eye differences that may be present in those with neurodevelopmental concerns.

Partnering with Simons Searchlight families in this endeavor will lead us closer to understanding the role of gene changes in the visual system, starting with the eye and retina. One of the most exciting aspects of this work is that if we find that specific gene changes are associated with more impaired vision, we may be able to get children into visual assessments sooner and improve care.