Primary cilia reveal novel biomarkers for autism in preterm infants

Autism is a neurodevelopmental disorder with increased risk in preterm babies. Identifying early biomarkers can help improve early diagnosis. Cilia are cellular structures that are essential for tissue homeostasis.

We have recently identified cilia-related molecular signaling pathways in an animal model of neonatal infection in connection with deficiency of the hippocampal cilia. However, there is no information on the underlying mechanisms of ciliopathies in autism.

Therefore, the hypothesis is that infections in premature infants interact with genetic factors, resulting in primary cilia deficits that increases risk of autism.

I will conduct interdisciplinary preclinical and clinical studies which will provide in-depth knowledge of new mechanisms underlying autism.

In the preclinical parts, I will use state-of-the-art morphological and molecular methods to identify cilia deficit and cilia transcriptome profile in both blood monocytes and brain after stimulation of specific innate immune receptors and an important autism-associated gene.

The clinical part validates cilia biomarker profiles identified in mice in blood monocytes of premature infants in connection with ASD diagnosis. I will also test anti-inflammatory drugs to see if by affecting cilia can be used as a possible treatment for autism.

Importantly, for the first time, by applying mathematical modeling, I will not only improve our ability to diagnose autism but also predicting autism symptoms.