The people behind the papers – Nia Teerikorpi Free

Nia Teerikorpi (left), with her children, and Helen Willsey (right).

Nia, how did you come to work in Helen Willsey's lab and what drives your research today?

I began my PhD in the lab of Jeremy Willsey at University of California, San Francisco (UCSF), where I studied how disruptions in autism-associated genes impact chromatin accessibility. As I delved deeper, I learned that autism and congenital heart disease share a high rate of co-morbidity, and that risk-associated genes for both disorders are enriched for DNA regulatory proteins. This realization sparked my curiosity to explore further the shared biology underlying these two conditions.

Late into my PhD, my mentor, Jeremy Willsey, left UCSF for a position in industry. But it's true what they say – every cloud has a silver lining. I consider myself very fortunate to have been welcomed into the labs of Helen Willsey and Tomasz Nowakowski to complete my research. Shortly after joining Helen's lab, we serendipitously uncovered the link between autism, congenital heart disease and cilia. The autism-cilia connection is something Helen's lab had already been investigating for some time, and it was exciting to contribute to this growing area of research.

Can you tell us about the background of the field that inspired your work?

The background that inspired my work lies at the intersection of two seemingly distinct conditions: autism and congenital heart disease. What makes this intersection so compelling is the possibility that by understanding their shared biology we might one day identify children at risk for autism much earlier than is currently possible, and perhaps even intervene in ways that could change the trajectory of their development. The fact that these two disorders, which at first glance appear unrelated, are linked by common genetic threads and cellular pathways – particularly those involving the tiny, whip-like structures called cilia – invites us to reconsider how the heart and brain develop in concert.

Can you give us the key results of the paper in a paragraph?

Our research reveals a significant connection between autism spectrum disorder (ASD) and congenital heart disease (CHD) through shared genetic factors impacting cilia function. By screening perturbations of CHD genes for their effects on neural progenitor cells, we identified a subset that, when disrupted, mirror the effects of ASD genes on neurodevelopment. Notably, we found that several ASD and CHD genes converge on ciliary biology, and that disrupting these shared genes impairs cilia formation and function in vitro. Furthermore, we demonstrated that TAOK1, a high-confidence ASD gene with predicted links to CHD, plays a crucial role in both motile cilia formation and heart development in vivo. Taken together, these findings not only illuminate a set of congenital heart disease genes that may also shape autism risk, but also underscore the role of cilia in shared ASD and CHD biology, reminding us that the boundaries between organ systems are often more porous and interconnected than we might have imagined.

When doing the research, did you have any particular result or eureka moment that has stuck with you?

The ‘eureka moment’ that stands out most vividly occurred when we first observed the impact of disrupting shared ASD and CHD genes on cilia formation. It was one of those moments where the data seemed to align perfectly.

Finally, let's move outside the lab – what do you like to do in your spare time?

In my spare time, I gravitate toward the outdoors – long hikes and forest bathing, often accompanied by my children, whose curiosity transforms even the simplest outing into an expedition, revealing hidden worlds in tree holes, creek beds, and dappled shadows. Having recently moved to Seattle, I'm drawn to the water and am looking forward to earning my sailing license on the Puget Sound. Baking also offers a delicious escape – Saturday mornings are filled with the joyful chaos of crafting souffle pancakes with the kids, while birthdays and holidays become an opportunity to create edible art.